Mutagenetix > Incidental Mutation

Incidental Mutation 'R6720:Frem1'

529530

Institutional Source

Beutler Lab

Gene Symbol

Frem1

Ensembl Gene

ENSMUSG00000059049

Gene Name

Fras1 related extracellular matrix protein 1

Synonyms

eyes2, heb, eye, crf11, QBRICK

MMRRC Submission

044838-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.642) question?

Stock #

R6720 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82897920-83052339 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 83013832 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 211 (S211R)

Ref Sequence

ENSEMBL: ENSMUSP00000102849 (fasta)

Gene Model

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

AlphaFold

Q684R7

Predicted Effect

probably damaging
Transcript: ENSMUST00000071708
AA Change: S211R

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000071627
Gene: ENSMUSG00000059049
AA Change: S211R

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 damaging
Transcript: ENSMUST00000107230
AA Change: S211R

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102849
Gene: ENSMUSG00000059049
AA Change: S211R

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

noncoding transcript
Transcript: ENSMUST00000131102

Predicted Effect

probably benign
Transcript: ENSMUST00000170248
AA Change: S211R

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000125809
Gene: ENSMUSG00000059049
AA Change: S211R

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

0.1987

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.6%

Validation Efficiency

98% (50/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	G	A	4: 137,454,686 (GRCm38)	E51K	possibly damaging	Het
Abca1	A	C	4: 53,083,733 (GRCm38)	L700R	probably damaging	Het
Arpc1a	C	A	5: 145,101,222 (GRCm38)		probably null	Het
Baz2b	G	T	2: 59,924,890 (GRCm38)	P241Q	probably damaging	Het
Cd6	T	A	19: 10,794,609 (GRCm38)	T414S	probably benign	Het
Ces2b	A	T	8: 104,836,869 (GRCm38)	E409D	probably benign	Het
Cfap54	A	G	10: 92,821,119 (GRCm38)	Y3024H	probably benign	Het
Chrm1	A	G	19: 8,678,548 (GRCm38)	T206A	probably benign	Het
Clptm1l	T	C	13: 73,618,516 (GRCm38)	W512R	probably damaging	Het
Col15a1	T	A	4: 47,247,552 (GRCm38)		probably null	Het
Cox15	A	G	19: 43,736,789 (GRCm38)	S392P	probably damaging	Het
Cr2	T	C	1: 195,155,200 (GRCm38)	M1197V	probably damaging	Het
Ddx60	A	G	8: 62,000,689 (GRCm38)	K1281E	probably benign	Het
Dnah11	A	G	12: 118,045,646 (GRCm38)	F2094L	probably damaging	Het
Ear2	T	A	14: 44,102,959 (GRCm38)	C25S	probably damaging	Het
Ect2l	T	C	10: 18,140,264 (GRCm38)	D802G	probably damaging	Het
Eftud2	G	A	11: 102,838,623 (GRCm38)	Q84*	probably null	Het
Eif4g3	T	A	4: 138,175,832 (GRCm38)		probably null	Het
Ephb2	T	C	4: 136,657,502 (GRCm38)	D866G	probably damaging	Het
Fam129b	T	A	2: 32,905,826 (GRCm38)	V22D	probably damaging	Het
Farsb	A	G	1: 78,472,497 (GRCm38)	M99T	probably damaging	Het
Foxs1	T	A	2: 152,932,720 (GRCm38)	S138C	probably damaging	Het
Gm19410	G	A	8: 35,807,576 (GRCm38)	R1517Q	probably benign	Het
Gria2	T	C	3: 80,802,304 (GRCm38)	I27M	probably benign	Het
H2-Q7	A	G	17: 35,442,678 (GRCm38)	E299G	probably benign	Het
Hao2	T	G	3: 98,877,135 (GRCm38)	I305L	probably benign	Het
Hectd4	C	T	5: 121,307,381 (GRCm38)	Q122*	probably null	Het
Hivep1	T	A	13: 42,164,284 (GRCm38)	C2079S	probably damaging	Het
Hoxb1	C	A	11: 96,366,987 (GRCm38)	Q248K	probably damaging	Het
Hspb6	A	G	7: 30,554,347 (GRCm38)	D95G	probably benign	Het
Ighv5-2	T	A	12: 113,578,506 (GRCm38)	R117S	probably damaging	Het
Ino80d	A	C	1: 63,058,610 (GRCm38)	S708R	probably damaging	Het
Lman1l	A	G	9: 57,614,072 (GRCm38)		probably null	Het
Mmp15	A	G	8: 95,365,314 (GRCm38)	N51D	probably benign	Het
Naip1	T	C	13: 100,423,077 (GRCm38)	M1140V	probably benign	Het
Olfr1053	A	G	2: 86,315,065 (GRCm38)	S74P	probably damaging	Het
Olfr1373	A	G	11: 52,144,693 (GRCm38)	V279A	probably benign	Het
Olfr397	A	G	11: 73,965,465 (GRCm38)	N286D	probably damaging	Het
Olfr890	T	A	9: 38,143,153 (GRCm38)	M1K	probably null	Het
Pard3b	A	T	1: 62,159,470 (GRCm38)	N239I	probably damaging	Het
Parvb	C	T	15: 84,297,979 (GRCm38)	R237W	probably damaging	Het
Pcdha9	T	C	18: 36,998,069 (GRCm38)	S64P	probably damaging	Het
Pdcd1	T	C	1: 94,041,389 (GRCm38)	N68S	probably benign	Het
Pi4ka	G	T	16: 17,326,052 (GRCm38)		probably null	Het
Plekha4	A	T	7: 45,540,886 (GRCm38)	D359V	possibly damaging	Het
Serpinb13	A	G	1: 106,994,062 (GRCm38)	I78V	probably benign	Het
Slc39a7	T	A	17: 34,030,108 (GRCm38)	T269S	probably benign	Het
Sltm	T	G	9: 70,573,710 (GRCm38)	D281E	probably damaging	Het
Zfp708	T	C	13: 67,071,432 (GRCm38)	Y76C	probably damaging	Het
Zfp990	T	A	4: 145,536,927 (GRCm38)	V165D	possibly damaging	Het

Other mutations in Frem1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Frem1	APN	4	82,959,389 (GRCm38)	missense	possibly damaging	0.46
IGL01069:Frem1	APN	4	83,013,867 (GRCm38)	missense	probably benign	0.00
IGL01106:Frem1	APN	4	82,922,257 (GRCm38)	missense	probably benign	0.00
IGL01398:Frem1	APN	4	82,950,362 (GRCm38)	missense	possibly damaging	0.64
IGL01617:Frem1	APN	4	82,936,139 (GRCm38)	missense	probably benign	0.02
IGL01647:Frem1	APN	4	82,950,356 (GRCm38)	missense	possibly damaging	0.60
IGL01690:Frem1	APN	4	82,959,296 (GRCm38)	splice site	probably benign
IGL02006:Frem1	APN	4	82,992,800 (GRCm38)	critical splice donor site	probably null
IGL02069:Frem1	APN	4	82,903,551 (GRCm38)	missense	probably damaging	1.00
IGL02131:Frem1	APN	4	82,924,854 (GRCm38)	missense	probably benign	0.03
IGL02225:Frem1	APN	4	82,940,506 (GRCm38)	missense	probably damaging	1.00
IGL02439:Frem1	APN	4	82,956,345 (GRCm38)	missense	probably benign	0.00
IGL02567:Frem1	APN	4	83,000,055 (GRCm38)	missense	probably damaging	1.00
IGL02647:Frem1	APN	4	83,001,754 (GRCm38)	missense	probably damaging	1.00
IGL02653:Frem1	APN	4	82,959,334 (GRCm38)	missense	probably benign	0.22
IGL02831:Frem1	APN	4	82,956,158 (GRCm38)	missense	probably benign	0.31
IGL02997:Frem1	APN	4	82,934,968 (GRCm38)	missense	probably damaging	1.00
IGL03005:Frem1	APN	4	82,994,134 (GRCm38)	missense	probably damaging	1.00
IGL03036:Frem1	APN	4	82,959,339 (GRCm38)	missense	possibly damaging	0.55
IGL03193:Frem1	APN	4	82,994,026 (GRCm38)	splice site	probably benign
IGL03218:Frem1	APN	4	82,914,646 (GRCm38)	missense	probably benign	0.00
IGL03235:Frem1	APN	4	83,020,755 (GRCm38)	missense	possibly damaging	0.87
IGL03243:Frem1	APN	4	83,013,969 (GRCm38)	missense	probably damaging	1.00
bat	UTSW	4	82,983,060 (GRCm38)	intron	probably benign
blister	UTSW	4	83,020,770 (GRCm38)	missense	probably benign	0.28
boy	UTSW	4	82,956,255 (GRCm38)	missense	probably benign	0.16
Bubblie	UTSW	4	82,970,633 (GRCm38)	critical splice donor site	probably null
magicbear	UTSW	4	83,001,820 (GRCm38)	missense	probably damaging	1.00
major	UTSW	4	82,989,189 (GRCm38)	missense	probably damaging	1.00
R6324_Frem1_643	UTSW	4	82,983,337 (GRCm38)	missense	probably benign	0.00
PIT4131001:Frem1	UTSW	4	83,005,808 (GRCm38)	missense	probably damaging	0.99
PIT4466001:Frem1	UTSW	4	82,972,137 (GRCm38)	missense	probably benign	0.01
PIT4472001:Frem1	UTSW	4	82,972,137 (GRCm38)	missense	probably benign	0.01
PIT4515001:Frem1	UTSW	4	82,900,426 (GRCm38)	missense	probably damaging	0.98
PIT4531001:Frem1	UTSW	4	82,950,280 (GRCm38)	missense	probably benign	0.12
R0010:Frem1	UTSW	4	83,000,098 (GRCm38)	missense	probably benign	0.41
R0010:Frem1	UTSW	4	83,000,098 (GRCm38)	missense	probably benign	0.41
R0115:Frem1	UTSW	4	82,936,169 (GRCm38)	missense	possibly damaging	0.94
R0125:Frem1	UTSW	4	83,011,951 (GRCm38)	missense	probably damaging	1.00
R0280:Frem1	UTSW	4	82,969,444 (GRCm38)	missense	probably damaging	1.00
R0504:Frem1	UTSW	4	82,912,637 (GRCm38)	missense	probably benign	0.26
R0519:Frem1	UTSW	4	82,970,633 (GRCm38)	critical splice donor site	probably null
R0631:Frem1	UTSW	4	82,972,165 (GRCm38)	missense	probably damaging	1.00
R0645:Frem1	UTSW	4	82,989,166 (GRCm38)	missense	probably damaging	1.00
R0781:Frem1	UTSW	4	82,950,320 (GRCm38)	missense	probably damaging	0.99
R1110:Frem1	UTSW	4	82,950,320 (GRCm38)	missense	probably damaging	0.99
R1115:Frem1	UTSW	4	83,020,770 (GRCm38)	missense	probably benign	0.28
R1130:Frem1	UTSW	4	82,916,628 (GRCm38)	splice site	probably null
R1173:Frem1	UTSW	4	82,950,352 (GRCm38)	missense	probably benign	0.16
R1349:Frem1	UTSW	4	82,922,305 (GRCm38)	splice site	probably benign
R1464:Frem1	UTSW	4	83,011,879 (GRCm38)	missense	probably damaging	1.00
R1464:Frem1	UTSW	4	83,011,879 (GRCm38)	missense	probably damaging	1.00
R1658:Frem1	UTSW	4	83,001,808 (GRCm38)	missense	probably damaging	1.00
R1672:Frem1	UTSW	4	82,998,891 (GRCm38)	missense	probably benign	0.09
R1831:Frem1	UTSW	4	83,020,837 (GRCm38)	missense	possibly damaging	0.95
R1851:Frem1	UTSW	4	82,950,500 (GRCm38)	missense	probably damaging	0.98
R2014:Frem1	UTSW	4	83,005,852 (GRCm38)	missense	probably damaging	1.00
R2021:Frem1	UTSW	4	82,913,558 (GRCm38)	missense	probably benign	0.02
R2022:Frem1	UTSW	4	82,913,558 (GRCm38)	missense	probably benign	0.02
R2023:Frem1	UTSW	4	82,913,558 (GRCm38)	missense	probably benign	0.02
R2183:Frem1	UTSW	4	82,991,495 (GRCm38)	missense	probably benign	0.00
R2437:Frem1	UTSW	4	83,000,173 (GRCm38)	missense	probably damaging	1.00
R2520:Frem1	UTSW	4	82,950,290 (GRCm38)	missense	probably damaging	0.99
R3195:Frem1	UTSW	4	83,014,114 (GRCm38)	missense	probably damaging	0.99
R3196:Frem1	UTSW	4	83,014,114 (GRCm38)	missense	probably damaging	0.99
R3408:Frem1	UTSW	4	83,011,986 (GRCm38)	missense	probably damaging	1.00
R3411:Frem1	UTSW	4	82,963,179 (GRCm38)	missense	possibly damaging	0.51
R3742:Frem1	UTSW	4	83,011,867 (GRCm38)	missense	probably damaging	1.00
R3829:Frem1	UTSW	4	82,998,930 (GRCm38)	missense	probably damaging	1.00
R3888:Frem1	UTSW	4	82,913,607 (GRCm38)	missense	probably benign	0.41
R4329:Frem1	UTSW	4	82,986,537 (GRCm38)	missense	probably benign	0.01
R4364:Frem1	UTSW	4	82,913,251 (GRCm38)	missense	probably damaging	0.99
R4411:Frem1	UTSW	4	82,963,244 (GRCm38)	missense	probably damaging	1.00
R4624:Frem1	UTSW	4	82,989,106 (GRCm38)	missense	probably damaging	1.00
R4687:Frem1	UTSW	4	83,020,631 (GRCm38)	missense	probably damaging	1.00
R4764:Frem1	UTSW	4	82,989,189 (GRCm38)	missense	probably damaging	1.00
R4801:Frem1	UTSW	4	82,916,628 (GRCm38)	splice site	probably benign
R4802:Frem1	UTSW	4	82,916,628 (GRCm38)	splice site	probably benign
R4854:Frem1	UTSW	4	82,916,758 (GRCm38)	missense	possibly damaging	0.88
R4872:Frem1	UTSW	4	82,963,150 (GRCm38)	missense	probably damaging	1.00
R4947:Frem1	UTSW	4	82,966,134 (GRCm38)	missense	probably damaging	0.99
R5007:Frem1	UTSW	4	82,940,812 (GRCm38)	intron	probably benign
R5103:Frem1	UTSW	4	82,991,612 (GRCm38)	missense	probably benign
R5369:Frem1	UTSW	4	83,001,739 (GRCm38)	missense	possibly damaging	0.61
R5494:Frem1	UTSW	4	82,940,753 (GRCm38)	makesense	probably null
R5694:Frem1	UTSW	4	82,994,116 (GRCm38)	missense	probably damaging	1.00
R5780:Frem1	UTSW	4	82,950,415 (GRCm38)	missense	probably benign	0.12
R5813:Frem1	UTSW	4	83,000,158 (GRCm38)	missense	probably damaging	1.00
R5843:Frem1	UTSW	4	82,936,052 (GRCm38)	missense	probably damaging	1.00
R5914:Frem1	UTSW	4	83,001,775 (GRCm38)	missense	probably damaging	1.00
R5985:Frem1	UTSW	4	82,966,050 (GRCm38)	missense	probably benign
R6091:Frem1	UTSW	4	82,900,559 (GRCm38)	missense	probably benign	0.01
R6165:Frem1	UTSW	4	82,956,255 (GRCm38)	missense	probably benign	0.16
R6324:Frem1	UTSW	4	82,983,337 (GRCm38)	missense	probably benign	0.00
R6369:Frem1	UTSW	4	82,913,792 (GRCm38)	splice site	probably null
R6414:Frem1	UTSW	4	82,940,536 (GRCm38)	missense	probably damaging	0.98
R6421:Frem1	UTSW	4	82,994,128 (GRCm38)	missense	probably damaging	1.00
R6434:Frem1	UTSW	4	82,966,016 (GRCm38)	missense	probably benign	0.03
R6453:Frem1	UTSW	4	82,914,825 (GRCm38)	nonsense	probably null
R6598:Frem1	UTSW	4	83,013,828 (GRCm38)	missense	probably damaging	0.99
R6862:Frem1	UTSW	4	83,012,014 (GRCm38)	nonsense	probably null
R6922:Frem1	UTSW	4	82,922,269 (GRCm38)	missense	probably damaging	1.00
R6931:Frem1	UTSW	4	82,970,677 (GRCm38)	missense	probably damaging	1.00
R6992:Frem1	UTSW	4	82,940,362 (GRCm38)	missense	possibly damaging	0.62
R6995:Frem1	UTSW	4	82,986,601 (GRCm38)	missense	probably damaging	1.00
R7001:Frem1	UTSW	4	82,986,561 (GRCm38)	missense	probably benign	0.44
R7104:Frem1	UTSW	4	82,940,681 (GRCm38)	missense	probably benign	0.30
R7146:Frem1	UTSW	4	82,922,295 (GRCm38)	missense	possibly damaging	0.93
R7174:Frem1	UTSW	4	82,922,256 (GRCm38)	missense	probably benign	0.00
R7327:Frem1	UTSW	4	83,020,755 (GRCm38)	missense	possibly damaging	0.87
R7343:Frem1	UTSW	4	82,994,122 (GRCm38)	missense	probably damaging	0.99
R7368:Frem1	UTSW	4	82,966,144 (GRCm38)	missense	probably benign	0.19
R7392:Frem1	UTSW	4	83,013,827 (GRCm38)	missense	probably benign	0.06
R7465:Frem1	UTSW	4	82,914,835 (GRCm38)	missense	probably benign	0.11
R7499:Frem1	UTSW	4	83,005,770 (GRCm38)	missense	probably damaging	1.00
R7536:Frem1	UTSW	4	82,956,195 (GRCm38)	missense	probably damaging	1.00
R7752:Frem1	UTSW	4	82,959,377 (GRCm38)	missense	probably benign	0.02
R7753:Frem1	UTSW	4	82,913,980 (GRCm38)	missense	probably benign	0.03
R7790:Frem1	UTSW	4	82,989,164 (GRCm38)	missense	probably benign	0.02
R7818:Frem1	UTSW	4	83,014,008 (GRCm38)	missense	probably damaging	1.00
R7877:Frem1	UTSW	4	83,013,812 (GRCm38)	critical splice donor site	probably null
R7878:Frem1	UTSW	4	83,020,680 (GRCm38)	missense	probably benign	0.00
R7886:Frem1	UTSW	4	83,016,406 (GRCm38)	missense	possibly damaging	0.68
R7901:Frem1	UTSW	4	82,959,377 (GRCm38)	missense	probably benign	0.02
R7976:Frem1	UTSW	4	83,001,709 (GRCm38)	missense	probably damaging	0.97
R8240:Frem1	UTSW	4	82,956,248 (GRCm38)	missense	probably benign	0.21
R8305:Frem1	UTSW	4	82,999,989 (GRCm38)	missense	probably benign	0.06
R8415:Frem1	UTSW	4	83,000,262 (GRCm38)	missense	probably damaging	1.00
R8751:Frem1	UTSW	4	82,970,778 (GRCm38)	missense	probably damaging	1.00
R8819:Frem1	UTSW	4	82,903,517 (GRCm38)	missense	probably damaging	1.00
R8820:Frem1	UTSW	4	82,903,517 (GRCm38)	missense	probably damaging	1.00
R8829:Frem1	UTSW	4	83,000,194 (GRCm38)	missense	probably damaging	1.00
R8834:Frem1	UTSW	4	83,004,373 (GRCm38)	missense	probably damaging	1.00
R8857:Frem1	UTSW	4	83,004,043 (GRCm38)	intron	probably benign
R8910:Frem1	UTSW	4	82,950,457 (GRCm38)	missense	probably benign	0.09
R9036:Frem1	UTSW	4	82,913,548 (GRCm38)	missense	probably benign
R9228:Frem1	UTSW	4	83,001,820 (GRCm38)	missense	probably damaging	1.00
R9382:Frem1	UTSW	4	82,983,385 (GRCm38)	missense	possibly damaging	0.79
R9441:Frem1	UTSW	4	83,005,846 (GRCm38)	missense	probably damaging	1.00
R9492:Frem1	UTSW	4	83,001,820 (GRCm38)	missense	probably damaging	1.00
R9517:Frem1	UTSW	4	82,983,477 (GRCm38)	missense	probably damaging	1.00
R9640:Frem1	UTSW	4	82,913,659 (GRCm38)	missense	probably benign
R9641:Frem1	UTSW	4	82,959,416 (GRCm38)	missense	probably damaging	1.00
X0013:Frem1	UTSW	4	82,914,808 (GRCm38)	missense	probably benign	0.38
X0017:Frem1	UTSW	4	82,991,633 (GRCm38)	critical splice acceptor site	probably null
Z1088:Frem1	UTSW	4	82,972,267 (GRCm38)	missense	probably damaging	1.00
Z1176:Frem1	UTSW	4	82,999,983 (GRCm38)	missense	probably damaging	1.00
Z1177:Frem1	UTSW	4	83,000,269 (GRCm38)	missense	probably benign	0.39
Z1177:Frem1	UTSW	4	82,940,315 (GRCm38)	critical splice donor site	probably null
Z1177:Frem1	UTSW	4	83,016,464 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTCTGATTCCAAATCCACAGC -3'
(R):5'- ACTGAATTCTATGGCTTATCGCAAG -3'

Sequencing Primer
(F):5'- CCATGTAGGCCTGGTGATCAAATTC -3'
(R):5'- GCCATTGATAAGAACCTGCTC -3'

Posted On

2018-08-01