Mutagenetix > Incidental Mutation

Incidental Mutation 'R0115:Frem1'

20707

Institutional Source

Beutler Lab

Gene Symbol

Frem1

Ensembl Gene

ENSMUSG00000059049

Gene Name

Fras1 related extracellular matrix protein 1

Synonyms

eyes2, crf11, eye, QBRICK, heb

MMRRC Submission

038401-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.662) question?

Stock #

R0115 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

82816157-82970576 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82854406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1621 (D1621V)

Ref Sequence

ENSEMBL: ENSMUSP00000125809 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071708] [ENSMUST00000107230] [ENSMUST00000170248]

AlphaFold

Q684R7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071708
AA Change: D1639V

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000071627
Gene: ENSMUSG00000059049
AA Change: D1639V

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Cadherin_3	364	508	1.7e-37	PFAM
Pfam:Cadherin_3	509	623	3.7e-18	PFAM
Pfam:Cadherin_3	592	709	8.4e-16	PFAM
Pfam:Cadherin_3	746	894	4.8e-26	PFAM
Pfam:Cadherin_3	863	1009	2.8e-30	PFAM
Pfam:Cadherin_3	1024	1115	6.4e-13	PFAM
Pfam:Cadherin_3	1119	1252	1.4e-17	PFAM
Pfam:Cadherin_3	1243	1393	8.2e-35	PFAM
Pfam:Cadherin_3	1378	1506	2e-22	PFAM
Pfam:Cadherin_3	1506	1616	1e-29	PFAM
Pfam:Cadherin_3	1617	1744	1.5e-14	PFAM
Pfam:Calx-beta	1749	1848	2.6e-10	PFAM
low complexity region	1894	1910	N/A	INTRINSIC
CLECT	2065	2188	2.25e-27	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107230
AA Change: D1620V

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102849
Gene: ENSMUSG00000059049
AA Change: D1620V

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
internal_repeat_1	296	967	9.01e-39	PROSPERO
internal_repeat_1	1026	1705	9.01e-39	PROSPERO
Pfam:Calx-beta	1730	1829	6.7e-10	PFAM
low complexity region	1875	1891	N/A	INTRINSIC
CLECT	2046	2169	2.25e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127886

SMART Domains

Protein: ENSMUSP00000122467
Gene: ENSMUSG00000059049

Domain	Start	End	E-Value	Type
Pfam:Cadherin_3	26	158	1.1e-18	PFAM
Pfam:Cadherin_3	150	300	4.6e-36	PFAM
Pfam:Cadherin_3	285	408	6e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141841

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170248
AA Change: D1621V

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125809
Gene: ENSMUSG00000059049
AA Change: D1621V

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Cadherin_3	365	509	1.3e-37	PFAM
Pfam:Cadherin_3	510	623	4.5e-18	PFAM
Pfam:Cadherin_3	593	711	6.1e-16	PFAM
Pfam:Cadherin_3	728	876	2.7e-27	PFAM
Pfam:Cadherin_3	845	991	2.1e-30	PFAM
Pfam:Cadherin_3	1006	1097	4.8e-13	PFAM
Pfam:Cadherin_3	1101	1234	1e-17	PFAM
Pfam:Cadherin_3	1225	1375	6.1e-35	PFAM
Pfam:Cadherin_3	1360	1488	1.5e-22	PFAM
Pfam:Cadherin_3	1488	1598	7.5e-30	PFAM
Pfam:Cadherin_3	1599	1726	1.1e-14	PFAM
Pfam:Calx-beta	1731	1830	6.4e-10	PFAM
low complexity region	1876	1892	N/A	INTRINSIC
CLECT	2047	2170	2.25e-27	SMART

Meta Mutation Damage Score

0.2006

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.2%
20x: 86.0%

Validation Efficiency

98% (98/100)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011]
PHENOTYPE: Homozygous mutation of this gene results in subepidermal blistering, cryptophthalmos, syndactyly, and renal agenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921528I07Rik	A	G	9: 114,108,452 (GRCm39)		noncoding transcript	Het
Alas1	A	T	9: 106,115,451 (GRCm39)		probably null	Het
Arf5	A	G	6: 28,426,075 (GRCm39)	Y154C	probably damaging	Het
Arhgap20	T	A	9: 51,750,272 (GRCm39)	I344N	probably damaging	Het
Arhgap30	A	C	1: 171,235,516 (GRCm39)	E630A	possibly damaging	Het
B4galt5	A	G	2: 167,151,154 (GRCm39)	L118P	probably damaging	Het
Bdp1	A	G	13: 100,177,962 (GRCm39)	I1969T	probably benign	Het
Bysl	C	T	17: 47,921,867 (GRCm39)	R77Q	probably benign	Het
Cap1	A	T	4: 122,756,868 (GRCm39)	H272Q	possibly damaging	Het
Ccdc146	T	C	5: 21,527,754 (GRCm39)	I187M	possibly damaging	Het
Ccdc192	G	A	18: 57,727,214 (GRCm39)		probably benign	Het
Cdhr18	A	G	14: 13,899,571 (GRCm38)	V117A	probably damaging	Het
Cdk13	C	A	13: 17,894,079 (GRCm39)	A1123S	probably damaging	Het
Ces5a	A	T	8: 94,228,811 (GRCm39)	M473K	probably damaging	Het
Chd8	A	G	14: 52,474,663 (GRCm39)	S123P	probably benign	Het
Cwc22	G	A	2: 77,738,455 (GRCm39)	A497V	probably damaging	Het
Cwh43	T	C	5: 73,575,370 (GRCm39)	S296P	probably damaging	Het
Cyp2c50	T	A	19: 40,080,837 (GRCm39)		probably benign	Het
Dlg1	C	A	16: 31,624,508 (GRCm39)	Y399*	probably null	Het
Drosha	A	T	15: 12,846,216 (GRCm39)	E92D	probably benign	Het
Fanca	C	T	8: 123,995,278 (GRCm39)	G1408D	probably benign	Het
Frem2	G	A	3: 53,563,629 (GRCm39)	R293C	probably damaging	Het
Fut8	T	A	12: 77,495,334 (GRCm39)	V308D	probably damaging	Het
Glipr1	A	G	10: 111,829,446 (GRCm39)	I105T	probably benign	Het
Glmn	A	T	5: 107,708,800 (GRCm39)	S385T	probably benign	Het
Gon4l	T	A	3: 88,802,989 (GRCm39)	V1200D	probably damaging	Het
Gpc1	G	A	1: 92,785,221 (GRCm39)	D387N	probably damaging	Het
Gsdmc	A	G	15: 63,675,486 (GRCm39)	Y110H	probably damaging	Het
Gucy1b1	T	A	3: 81,941,698 (GRCm39)	H586L	probably benign	Het
Gucy2e	A	G	11: 69,127,458 (GRCm39)	L5P	unknown	Het
Hectd4	A	G	5: 121,433,569 (GRCm39)		probably benign	Het
Hmcn1	T	A	1: 150,684,398 (GRCm39)	I391F	possibly damaging	Het
Hsf4	A	T	8: 105,999,336 (GRCm39)		probably null	Het
I830077J02Rik	G	A	3: 105,833,886 (GRCm39)	T90M	probably damaging	Het
Ino80	A	T	2: 119,261,497 (GRCm39)	H722Q	probably damaging	Het
Kcnma1	C	A	14: 23,364,243 (GRCm39)	R980L	probably damaging	Het
Kif1a	A	G	1: 92,974,500 (GRCm39)		probably benign	Het
Klhdc7b	A	G	15: 89,272,724 (GRCm39)	H1202R	probably benign	Het
Lig3	A	G	11: 82,684,761 (GRCm39)	D559G	probably damaging	Het
Lyst	T	C	13: 13,852,537 (GRCm39)	V2179A	probably benign	Het
Mab21l4	A	T	1: 93,087,447 (GRCm39)	S135R	possibly damaging	Het
Mansc4	A	G	6: 146,976,725 (GRCm39)	I297T	possibly damaging	Het
Marchf6	A	T	15: 31,475,958 (GRCm39)	F633I	probably benign	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Megf10	G	T	18: 57,392,874 (GRCm39)	V424L	possibly damaging	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Mib2	A	G	4: 155,740,519 (GRCm39)		probably benign	Het
Mmut	C	T	17: 41,267,118 (GRCm39)	T564M	probably damaging	Het
Myh8	A	G	11: 67,197,090 (GRCm39)		probably benign	Het
Mypn	T	C	10: 63,028,159 (GRCm39)		probably benign	Het
Nf1	G	A	11: 79,359,702 (GRCm39)		probably null	Het
Notch3	T	A	17: 32,352,436 (GRCm39)	T1866S	possibly damaging	Het
Or1e30	A	G	11: 73,678,141 (GRCm39)	I126V	possibly damaging	Het
Or1o11	C	T	17: 37,756,670 (GRCm39)	A86V	probably benign	Het
Or4c102	A	T	2: 88,422,999 (GRCm39)	I284F	probably damaging	Het
Or4k51	T	A	2: 111,584,930 (GRCm39)	M112K	probably damaging	Het
Pkhd1	A	T	1: 20,420,714 (GRCm39)	I2464N	probably damaging	Het
Pkn1	A	G	8: 84,397,658 (GRCm39)	S817P	probably damaging	Het
Prkg2	A	T	5: 99,142,514 (GRCm39)		probably null	Het
Prl8a6	T	C	13: 27,617,084 (GRCm39)	D201G	probably benign	Het
Psmd1	C	T	1: 86,010,993 (GRCm39)	T356I	possibly damaging	Het
Ptk6	G	A	2: 180,844,320 (GRCm39)		probably benign	Het
Ptprn2	T	C	12: 117,175,466 (GRCm39)		probably benign	Het
Rbm42	G	A	7: 30,347,200 (GRCm39)	T106I	probably damaging	Het
Rims4	A	T	2: 163,706,040 (GRCm39)	V198E	probably damaging	Het
Ripk1	T	C	13: 34,193,733 (GRCm39)	S32P	probably damaging	Het
Rorc	T	C	3: 94,284,916 (GRCm39)		probably benign	Het
Rpl22l1	T	C	3: 28,860,685 (GRCm39)	F15L	probably damaging	Het
Slc6a20a	C	A	9: 123,507,823 (GRCm39)	A17S	possibly damaging	Het
Sorcs1	A	G	19: 50,624,891 (GRCm39)		probably benign	Het
Sp100	A	G	1: 85,577,852 (GRCm39)		probably benign	Het
Ssc5d	G	A	7: 4,930,880 (GRCm39)		probably benign	Het
Taf11	A	G	17: 28,126,635 (GRCm39)	L4P	probably benign	Het
Tm2d3	A	G	7: 65,345,082 (GRCm39)		probably benign	Het
Tmub2	T	C	11: 102,179,201 (GRCm39)		probably null	Het
Trim34a	T	A	7: 103,897,109 (GRCm39)	C58S	probably damaging	Het
Trpc3	T	C	3: 36,678,566 (GRCm39)	I840V	probably benign	Het
Trpm6	T	C	19: 18,807,316 (GRCm39)	V1020A	probably damaging	Het
Vmn1r214	T	A	13: 23,219,464 (GRCm39)	Y319*	probably null	Het
Vmn1r59	T	C	7: 5,457,115 (GRCm39)	N215S	probably benign	Het
Vmn2r74	T	C	7: 85,606,564 (GRCm39)	M261V	probably benign	Het
Vmn2r89	T	C	14: 51,693,577 (GRCm39)	F309S	probably damaging	Het
Wdr95	A	T	5: 149,487,855 (GRCm39)	D163V	probably damaging	Het
Xirp2	T	A	2: 67,340,253 (GRCm39)	F831L	possibly damaging	Het
Ythdc2	C	T	18: 44,974,490 (GRCm39)		probably benign	Het

Other mutations in Frem1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Frem1	APN	4	82,877,626 (GRCm39)	missense	possibly damaging	0.46
IGL01069:Frem1	APN	4	82,932,104 (GRCm39)	missense	probably benign	0.00
IGL01106:Frem1	APN	4	82,840,494 (GRCm39)	missense	probably benign	0.00
IGL01398:Frem1	APN	4	82,868,599 (GRCm39)	missense	possibly damaging	0.64
IGL01617:Frem1	APN	4	82,854,376 (GRCm39)	missense	probably benign	0.02
IGL01647:Frem1	APN	4	82,868,593 (GRCm39)	missense	possibly damaging	0.60
IGL01690:Frem1	APN	4	82,877,533 (GRCm39)	splice site	probably benign
IGL02006:Frem1	APN	4	82,911,037 (GRCm39)	critical splice donor site	probably null
IGL02069:Frem1	APN	4	82,821,788 (GRCm39)	missense	probably damaging	1.00
IGL02131:Frem1	APN	4	82,843,091 (GRCm39)	missense	probably benign	0.03
IGL02225:Frem1	APN	4	82,858,743 (GRCm39)	missense	probably damaging	1.00
IGL02439:Frem1	APN	4	82,874,582 (GRCm39)	missense	probably benign	0.00
IGL02567:Frem1	APN	4	82,918,292 (GRCm39)	missense	probably damaging	1.00
IGL02647:Frem1	APN	4	82,919,991 (GRCm39)	missense	probably damaging	1.00
IGL02653:Frem1	APN	4	82,877,571 (GRCm39)	missense	probably benign	0.22
IGL02831:Frem1	APN	4	82,874,395 (GRCm39)	missense	probably benign	0.31
IGL02997:Frem1	APN	4	82,853,205 (GRCm39)	missense	probably damaging	1.00
IGL03005:Frem1	APN	4	82,912,371 (GRCm39)	missense	probably damaging	1.00
IGL03036:Frem1	APN	4	82,877,576 (GRCm39)	missense	possibly damaging	0.55
IGL03193:Frem1	APN	4	82,912,263 (GRCm39)	splice site	probably benign
IGL03218:Frem1	APN	4	82,832,883 (GRCm39)	missense	probably benign	0.00
IGL03235:Frem1	APN	4	82,938,992 (GRCm39)	missense	possibly damaging	0.87
IGL03243:Frem1	APN	4	82,932,206 (GRCm39)	missense	probably damaging	1.00
bat	UTSW	4	82,983,060 (GRCm38)	intron	probably benign
blister	UTSW	4	82,939,007 (GRCm39)	missense	probably benign	0.28
boy	UTSW	4	82,874,492 (GRCm39)	missense	probably benign	0.16
Bubblie	UTSW	4	82,888,870 (GRCm39)	critical splice donor site	probably null
magicbear	UTSW	4	82,920,057 (GRCm39)	missense	probably damaging	1.00
major	UTSW	4	82,907,426 (GRCm39)	missense	probably damaging	1.00
R6324_Frem1_643	UTSW	4	82,901,574 (GRCm39)	missense	probably benign	0.00
PIT4131001:Frem1	UTSW	4	82,924,045 (GRCm39)	missense	probably damaging	0.99
PIT4466001:Frem1	UTSW	4	82,890,374 (GRCm39)	missense	probably benign	0.01
PIT4472001:Frem1	UTSW	4	82,890,374 (GRCm39)	missense	probably benign	0.01
PIT4515001:Frem1	UTSW	4	82,818,663 (GRCm39)	missense	probably damaging	0.98
PIT4531001:Frem1	UTSW	4	82,868,517 (GRCm39)	missense	probably benign	0.12
R0010:Frem1	UTSW	4	82,918,335 (GRCm39)	missense	probably benign	0.41
R0010:Frem1	UTSW	4	82,918,335 (GRCm39)	missense	probably benign	0.41
R0125:Frem1	UTSW	4	82,930,188 (GRCm39)	missense	probably damaging	1.00
R0280:Frem1	UTSW	4	82,887,681 (GRCm39)	missense	probably damaging	1.00
R0504:Frem1	UTSW	4	82,830,874 (GRCm39)	missense	probably benign	0.26
R0519:Frem1	UTSW	4	82,888,870 (GRCm39)	critical splice donor site	probably null
R0631:Frem1	UTSW	4	82,890,402 (GRCm39)	missense	probably damaging	1.00
R0645:Frem1	UTSW	4	82,907,403 (GRCm39)	missense	probably damaging	1.00
R0781:Frem1	UTSW	4	82,868,557 (GRCm39)	missense	probably damaging	0.99
R1110:Frem1	UTSW	4	82,868,557 (GRCm39)	missense	probably damaging	0.99
R1115:Frem1	UTSW	4	82,939,007 (GRCm39)	missense	probably benign	0.28
R1130:Frem1	UTSW	4	82,834,865 (GRCm39)	splice site	probably null
R1173:Frem1	UTSW	4	82,868,589 (GRCm39)	missense	probably benign	0.16
R1349:Frem1	UTSW	4	82,840,542 (GRCm39)	splice site	probably benign
R1464:Frem1	UTSW	4	82,930,116 (GRCm39)	missense	probably damaging	1.00
R1464:Frem1	UTSW	4	82,930,116 (GRCm39)	missense	probably damaging	1.00
R1658:Frem1	UTSW	4	82,920,045 (GRCm39)	missense	probably damaging	1.00
R1672:Frem1	UTSW	4	82,917,128 (GRCm39)	missense	probably benign	0.09
R1831:Frem1	UTSW	4	82,939,074 (GRCm39)	missense	possibly damaging	0.95
R1851:Frem1	UTSW	4	82,868,737 (GRCm39)	missense	probably damaging	0.98
R2014:Frem1	UTSW	4	82,924,089 (GRCm39)	missense	probably damaging	1.00
R2021:Frem1	UTSW	4	82,831,795 (GRCm39)	missense	probably benign	0.02
R2022:Frem1	UTSW	4	82,831,795 (GRCm39)	missense	probably benign	0.02
R2023:Frem1	UTSW	4	82,831,795 (GRCm39)	missense	probably benign	0.02
R2183:Frem1	UTSW	4	82,909,732 (GRCm39)	missense	probably benign	0.00
R2437:Frem1	UTSW	4	82,918,410 (GRCm39)	missense	probably damaging	1.00
R2520:Frem1	UTSW	4	82,868,527 (GRCm39)	missense	probably damaging	0.99
R3195:Frem1	UTSW	4	82,932,351 (GRCm39)	missense	probably damaging	0.99
R3196:Frem1	UTSW	4	82,932,351 (GRCm39)	missense	probably damaging	0.99
R3408:Frem1	UTSW	4	82,930,223 (GRCm39)	missense	probably damaging	1.00
R3411:Frem1	UTSW	4	82,881,416 (GRCm39)	missense	possibly damaging	0.51
R3742:Frem1	UTSW	4	82,930,104 (GRCm39)	missense	probably damaging	1.00
R3829:Frem1	UTSW	4	82,917,167 (GRCm39)	missense	probably damaging	1.00
R3888:Frem1	UTSW	4	82,831,844 (GRCm39)	missense	probably benign	0.41
R4329:Frem1	UTSW	4	82,904,774 (GRCm39)	missense	probably benign	0.01
R4364:Frem1	UTSW	4	82,831,488 (GRCm39)	missense	probably damaging	0.99
R4411:Frem1	UTSW	4	82,881,481 (GRCm39)	missense	probably damaging	1.00
R4624:Frem1	UTSW	4	82,907,343 (GRCm39)	missense	probably damaging	1.00
R4687:Frem1	UTSW	4	82,938,868 (GRCm39)	missense	probably damaging	1.00
R4764:Frem1	UTSW	4	82,907,426 (GRCm39)	missense	probably damaging	1.00
R4801:Frem1	UTSW	4	82,834,865 (GRCm39)	splice site	probably benign
R4802:Frem1	UTSW	4	82,834,865 (GRCm39)	splice site	probably benign
R4854:Frem1	UTSW	4	82,834,995 (GRCm39)	missense	possibly damaging	0.88
R4872:Frem1	UTSW	4	82,881,387 (GRCm39)	missense	probably damaging	1.00
R4947:Frem1	UTSW	4	82,884,371 (GRCm39)	missense	probably damaging	0.99
R5007:Frem1	UTSW	4	82,859,049 (GRCm39)	intron	probably benign
R5103:Frem1	UTSW	4	82,909,849 (GRCm39)	missense	probably benign
R5369:Frem1	UTSW	4	82,919,976 (GRCm39)	missense	possibly damaging	0.61
R5494:Frem1	UTSW	4	82,858,990 (GRCm39)	makesense	probably null
R5694:Frem1	UTSW	4	82,912,353 (GRCm39)	missense	probably damaging	1.00
R5780:Frem1	UTSW	4	82,868,652 (GRCm39)	missense	probably benign	0.12
R5813:Frem1	UTSW	4	82,918,395 (GRCm39)	missense	probably damaging	1.00
R5843:Frem1	UTSW	4	82,854,289 (GRCm39)	missense	probably damaging	1.00
R5914:Frem1	UTSW	4	82,920,012 (GRCm39)	missense	probably damaging	1.00
R5985:Frem1	UTSW	4	82,884,287 (GRCm39)	missense	probably benign
R6091:Frem1	UTSW	4	82,818,796 (GRCm39)	missense	probably benign	0.01
R6165:Frem1	UTSW	4	82,874,492 (GRCm39)	missense	probably benign	0.16
R6324:Frem1	UTSW	4	82,901,574 (GRCm39)	missense	probably benign	0.00
R6369:Frem1	UTSW	4	82,832,029 (GRCm39)	splice site	probably null
R6414:Frem1	UTSW	4	82,858,773 (GRCm39)	missense	probably damaging	0.98
R6421:Frem1	UTSW	4	82,912,365 (GRCm39)	missense	probably damaging	1.00
R6434:Frem1	UTSW	4	82,884,253 (GRCm39)	missense	probably benign	0.03
R6453:Frem1	UTSW	4	82,833,062 (GRCm39)	nonsense	probably null
R6598:Frem1	UTSW	4	82,932,065 (GRCm39)	missense	probably damaging	0.99
R6720:Frem1	UTSW	4	82,932,069 (GRCm39)	missense	probably damaging	0.98
R6862:Frem1	UTSW	4	82,930,251 (GRCm39)	nonsense	probably null
R6922:Frem1	UTSW	4	82,840,506 (GRCm39)	missense	probably damaging	1.00
R6931:Frem1	UTSW	4	82,888,914 (GRCm39)	missense	probably damaging	1.00
R6992:Frem1	UTSW	4	82,858,599 (GRCm39)	missense	possibly damaging	0.62
R6995:Frem1	UTSW	4	82,904,838 (GRCm39)	missense	probably damaging	1.00
R7001:Frem1	UTSW	4	82,904,798 (GRCm39)	missense	probably benign	0.44
R7104:Frem1	UTSW	4	82,858,918 (GRCm39)	missense	probably benign	0.30
R7146:Frem1	UTSW	4	82,840,532 (GRCm39)	missense	possibly damaging	0.93
R7174:Frem1	UTSW	4	82,840,493 (GRCm39)	missense	probably benign	0.00
R7327:Frem1	UTSW	4	82,938,992 (GRCm39)	missense	possibly damaging	0.87
R7343:Frem1	UTSW	4	82,912,359 (GRCm39)	missense	probably damaging	0.99
R7368:Frem1	UTSW	4	82,884,381 (GRCm39)	missense	probably benign	0.19
R7392:Frem1	UTSW	4	82,932,064 (GRCm39)	missense	probably benign	0.06
R7465:Frem1	UTSW	4	82,833,072 (GRCm39)	missense	probably benign	0.11
R7499:Frem1	UTSW	4	82,924,007 (GRCm39)	missense	probably damaging	1.00
R7536:Frem1	UTSW	4	82,874,432 (GRCm39)	missense	probably damaging	1.00
R7752:Frem1	UTSW	4	82,877,614 (GRCm39)	missense	probably benign	0.02
R7753:Frem1	UTSW	4	82,832,217 (GRCm39)	missense	probably benign	0.03
R7790:Frem1	UTSW	4	82,907,401 (GRCm39)	missense	probably benign	0.02
R7818:Frem1	UTSW	4	82,932,245 (GRCm39)	missense	probably damaging	1.00
R7877:Frem1	UTSW	4	82,932,049 (GRCm39)	critical splice donor site	probably null
R7878:Frem1	UTSW	4	82,938,917 (GRCm39)	missense	probably benign	0.00
R7886:Frem1	UTSW	4	82,934,643 (GRCm39)	missense	possibly damaging	0.68
R7901:Frem1	UTSW	4	82,877,614 (GRCm39)	missense	probably benign	0.02
R7976:Frem1	UTSW	4	82,919,946 (GRCm39)	missense	probably damaging	0.97
R8240:Frem1	UTSW	4	82,874,485 (GRCm39)	missense	probably benign	0.21
R8305:Frem1	UTSW	4	82,918,226 (GRCm39)	missense	probably benign	0.06
R8415:Frem1	UTSW	4	82,918,499 (GRCm39)	missense	probably damaging	1.00
R8751:Frem1	UTSW	4	82,889,015 (GRCm39)	missense	probably damaging	1.00
R8819:Frem1	UTSW	4	82,821,754 (GRCm39)	missense	probably damaging	1.00
R8820:Frem1	UTSW	4	82,821,754 (GRCm39)	missense	probably damaging	1.00
R8829:Frem1	UTSW	4	82,918,431 (GRCm39)	missense	probably damaging	1.00
R8834:Frem1	UTSW	4	82,922,610 (GRCm39)	missense	probably damaging	1.00
R8857:Frem1	UTSW	4	82,922,280 (GRCm39)	intron	probably benign
R8910:Frem1	UTSW	4	82,868,694 (GRCm39)	missense	probably benign	0.09
R9036:Frem1	UTSW	4	82,831,785 (GRCm39)	missense	probably benign
R9228:Frem1	UTSW	4	82,920,057 (GRCm39)	missense	probably damaging	1.00
R9382:Frem1	UTSW	4	82,901,622 (GRCm39)	missense	possibly damaging	0.79
R9441:Frem1	UTSW	4	82,924,083 (GRCm39)	missense	probably damaging	1.00
R9492:Frem1	UTSW	4	82,920,057 (GRCm39)	missense	probably damaging	1.00
R9517:Frem1	UTSW	4	82,901,714 (GRCm39)	missense	probably damaging	1.00
R9640:Frem1	UTSW	4	82,831,896 (GRCm39)	missense	probably benign
R9641:Frem1	UTSW	4	82,877,653 (GRCm39)	missense	probably damaging	1.00
X0013:Frem1	UTSW	4	82,833,045 (GRCm39)	missense	probably benign	0.38
X0017:Frem1	UTSW	4	82,909,870 (GRCm39)	critical splice acceptor site	probably null
Z1088:Frem1	UTSW	4	82,890,504 (GRCm39)	missense	probably damaging	1.00
Z1176:Frem1	UTSW	4	82,918,220 (GRCm39)	missense	probably damaging	1.00
Z1177:Frem1	UTSW	4	82,918,506 (GRCm39)	missense	probably benign	0.39
Z1177:Frem1	UTSW	4	82,858,552 (GRCm39)	critical splice donor site	probably null
Z1177:Frem1	UTSW	4	82,934,701 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACTGAGATGGAAAGTACACCCGC -3'
(R):5'- TGGAAAGGAAACCTTGGCCCTTG -3'

Sequencing Primer
(F):5'- AAGATGGAAAGTACCTGTTGTTG -3'
(R):5'- AAACCTTGGCCCTTGTCTCTG -3'

Posted On

2013-04-11