Mutagenetix > Incidental Mutation

Incidental Mutation 'R6165:Frem1'

490083

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

044311-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.662) question?

Stock #

R6165 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82816157-82970576 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82874492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 1359 (K1359E)

Ref Sequence

ENSEMBL: ENSMUSP00000125809 (fasta)

Gene Model

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

AlphaFold

Q684R7

Predicted Effect

probably benign
Transcript: ENSMUST00000071708
AA Change: K1377E

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000071627
Gene: ENSMUSG00000059049
AA Change: K1377E

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

probably benign
Transcript: ENSMUST00000107230
AA Change: K1358E

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000102849
Gene: ENSMUSG00000059049
AA Change: K1358E

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

unknown
Transcript: ENSMUST00000127886
AA Change: K283E

SMART Domains

Protein: ENSMUSP00000122467
Gene: ENSMUSG00000059049
AA Change: K283E

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

probably benign
Transcript: ENSMUST00000170248
AA Change: K1359E

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000125809
Gene: ENSMUSG00000059049
AA Change: K1359E

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 94.1%

Validation Efficiency

98% (47/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd35	A	G	3: 96,590,623 (GRCm39)	E303G	possibly damaging	Het
Atosa	A	G	9: 74,932,954 (GRCm39)	T974A	probably damaging	Het
C2cd5	T	C	6: 142,995,954 (GRCm39)	T389A	possibly damaging	Het
Catsperb	T	A	12: 101,542,075 (GRCm39)	Y592N	possibly damaging	Het
Cfap91	A	G	16: 38,154,173 (GRCm39)	F124S	possibly damaging	Het
Cnot9	T	C	1: 74,567,952 (GRCm39)	V280A	probably benign	Het
Cyld	A	G	8: 89,473,561 (GRCm39)	I927V	possibly damaging	Het
Etfdh	A	T	3: 79,512,251 (GRCm39)	S490T	probably benign	Het
Fance	C	T	17: 28,545,068 (GRCm39)	R150C	probably benign	Het
Far1	A	G	7: 113,153,425 (GRCm39)	K353E	probably benign	Het
Fbn1	T	C	2: 125,174,283 (GRCm39)	I1858V	probably damaging	Het
Ghdc	T	G	11: 100,659,928 (GRCm39)	E273A	possibly damaging	Het
Gpt	A	G	15: 76,582,170 (GRCm39)	D209G	probably benign	Het
Hspb7	T	C	4: 141,149,862 (GRCm39)	F83L	probably benign	Het
Itga7	A	G	10: 128,778,804 (GRCm39)	I306M	probably benign	Het
Itgb5	A	G	16: 33,719,612 (GRCm39)	E261G	probably benign	Het
Kcnj14	G	T	7: 45,469,424 (GRCm39)	A27E	possibly damaging	Het
Kif13b	A	G	14: 64,979,760 (GRCm39)	H470R	probably damaging	Het
Macroh2a1	A	T	13: 56,252,268 (GRCm39)	N108K	probably damaging	Het
Morc3	T	C	16: 93,638,271 (GRCm39)	F18L	probably damaging	Het
Mrgprb8	T	A	7: 48,038,565 (GRCm39)	C79S	possibly damaging	Het
Mroh2b	T	A	15: 4,947,832 (GRCm39)	M549K	probably benign	Het
Msl1	T	C	11: 98,695,673 (GRCm39)	V563A	probably damaging	Het
Nwd1	C	T	8: 73,388,814 (GRCm39)	R81W	probably damaging	Het
Or5b124	A	T	19: 13,610,507 (GRCm39)	I11F	possibly damaging	Het
Or5b124	C	T	19: 13,610,952 (GRCm39)	A159V	probably benign	Het
Phf2	C	A	13: 48,967,341 (GRCm39)		probably null	Het
Pjvk	T	G	2: 76,480,562 (GRCm39)		probably null	Het
Rgl2	A	G	17: 34,150,739 (GRCm39)	T66A	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Rtkn	G	T	6: 83,122,944 (GRCm39)	E67D	probably damaging	Het
Serpinb9	T	A	13: 33,192,807 (GRCm39)	F121L	possibly damaging	Het
Slc34a1	G	A	13: 23,999,053 (GRCm39)	V149I	probably benign	Het
Sobp	A	G	10: 42,898,599 (GRCm39)	S329P	probably damaging	Het
Syne1	A	T	10: 5,375,678 (GRCm39)	L138Q	probably damaging	Het
Tfr2	T	A	5: 137,578,519 (GRCm39)	V449D	probably damaging	Het
Tmem151b	T	C	17: 45,856,711 (GRCm39)	Y243C	probably damaging	Het
Trank1	T	C	9: 111,220,940 (GRCm39)	V2559A	probably benign	Het
Trim35	T	C	14: 66,546,654 (GRCm39)	Y474H	probably damaging	Het
Uso1	A	T	5: 92,335,126 (GRCm39)	L495F	probably damaging	Het
Wdr24	A	G	17: 26,045,395 (GRCm39)	I377V	probably benign	Het
Xpo5	T	A	17: 46,546,883 (GRCm39)	V878D	possibly damaging	Het
Zfc3h1	A	G	10: 115,256,574 (GRCm39)	I1515V	probably benign	Het
Zfp319	CA	C	8: 96,054,733 (GRCm39)	489	probably null	Het
Zfp384	T	G	6: 125,001,896 (GRCm39)		probably null	Het
Zfp704	G	T	3: 9,508,946 (GRCm39)	P416T	probably benign	Het
Zfr	C	T	15: 12,146,331 (GRCm39)	A294V	unknown	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
R0115:Frem1	UTSW	4	82,854,406 (GRCm39)	missense	possibly damaging	0.94
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
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'- GTCAGGAAGTTTTCTAGGCCC -3'
(R):5'- CCCCAAGTGTTCCTATCAGAG -3'

Sequencing Primer
(F):5'- CAGGAAGTTTTCTAGGCCCATAGC -3'
(R):5'- CAAGTGTTCCTATCAGAGGTTTTCAG -3'

Posted On

2017-10-10