Mutagenetix > Incidental Mutation

Incidental Mutation 'R5024:Fam83h'

391262

Institutional Source

Beutler Lab

Gene Symbol

Fam83h

Ensembl Gene

ENSMUSG00000046761

Gene Name

family with sequence similarity 83, member H

Synonyms

MMRRC Submission

042615-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.316) question?

Stock #

R5024 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75872942-75886185 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75876991 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 202 (H202R)

Ref Sequence

ENSEMBL: ENSMUSP00000126453 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060807] [ENSMUST00000170153] [ENSMUST00000187868]

AlphaFold

Q148V8

Predicted Effect

probably damaging
Transcript: ENSMUST00000060807
AA Change: H202R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000059839
Gene: ENSMUSG00000046761
AA Change: H202R

Domain	Start	End	E-Value	Type
Pfam:DUF1669	12	283	3.4e-105	PFAM
low complexity region	304	317	N/A	INTRINSIC
low complexity region	562	578	N/A	INTRINSIC
low complexity region	629	652	N/A	INTRINSIC
low complexity region	671	679	N/A	INTRINSIC
low complexity region	685	697	N/A	INTRINSIC
low complexity region	736	747	N/A	INTRINSIC
internal_repeat_1	836	877	9.35e-9	PROSPERO
internal_repeat_1	877	921	9.35e-9	PROSPERO

Predicted Effect

probably damaging
Transcript: ENSMUST00000170153
AA Change: H202R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126453
Gene: ENSMUSG00000046761
AA Change: H202R

Domain	Start	End	E-Value	Type
Pfam:DUF1669	4	284	2.1e-110	PFAM
low complexity region	304	317	N/A	INTRINSIC
low complexity region	562	578	N/A	INTRINSIC
low complexity region	629	652	N/A	INTRINSIC
low complexity region	671	679	N/A	INTRINSIC
low complexity region	685	697	N/A	INTRINSIC
low complexity region	736	747	N/A	INTRINSIC
internal_repeat_1	836	877	9.35e-9	PROSPERO
internal_repeat_1	877	921	9.35e-9	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185810

Predicted Effect

probably benign
Transcript: ENSMUST00000187868

Meta Mutation Damage Score

0.4470

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

99% (95/96)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene plays an important role in the structural development and calcification of tooth enamel. Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). [provided by RefSeq, Mar 2010]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	A	G	5: 129,248,959 (GRCm39)	N575S	probably damaging	Het
Akap6	C	T	12: 53,189,345 (GRCm39)	T2253M	probably benign	Het
Arhgef37	A	C	18: 61,639,511 (GRCm39)	N289K	probably damaging	Het
Atad2b	A	C	12: 4,987,534 (GRCm39)	T121P	probably benign	Het
Atp4a	A	C	7: 30,415,289 (GRCm39)	D303A	possibly damaging	Het
Calu	A	T	6: 29,374,518 (GRCm39)		probably benign	Het
Ccdc141	A	C	2: 76,885,047 (GRCm39)	N531K	probably benign	Het
Ccdc146	T	C	5: 21,604,612 (GRCm39)		probably null	Het
Cd207	G	A	6: 83,651,301 (GRCm39)	T218I	probably damaging	Het
Cd2ap	A	C	17: 43,116,236 (GRCm39)		probably null	Het
Ceacam23	A	G	7: 17,644,607 (GRCm39)	I575V	probably benign	Het
Clip3	G	A	7: 29,991,644 (GRCm39)		probably benign	Het
Clstn1	G	A	4: 149,719,751 (GRCm39)	R432H	possibly damaging	Het
Csmd2	A	G	4: 128,215,141 (GRCm39)	Y521C	possibly damaging	Het
Dnah8	A	T	17: 30,955,070 (GRCm39)	E2033V	probably damaging	Het
Eng	T	G	2: 32,563,404 (GRCm39)	V319G	probably benign	Het
Erp44	C	T	4: 48,241,296 (GRCm39)	W57*	probably null	Het
Etv1	T	A	12: 38,904,233 (GRCm39)		probably null	Het
Eva1c	T	C	16: 90,673,081 (GRCm39)		probably null	Het
Fam221b	T	A	4: 43,659,674 (GRCm39)	N482I	probably damaging	Het
Fbxw13	T	C	9: 109,008,403 (GRCm39)	T449A	probably benign	Het
Fbxw25	A	T	9: 109,492,442 (GRCm39)		probably null	Het
Frmd3	T	A	4: 74,016,381 (GRCm39)	S99T	probably benign	Het
Gm5174	G	T	10: 86,492,451 (GRCm39)		noncoding transcript	Het
Gm815	C	T	19: 26,865,175 (GRCm39)	Q49*	probably null	Het
H2-DMa	A	T	17: 34,357,461 (GRCm39)	I245F	possibly damaging	Het
Herc1	A	T	9: 66,377,608 (GRCm39)	K3458M	possibly damaging	Het
Hirip3	A	G	7: 126,463,661 (GRCm39)		probably null	Het
Hjurp	A	T	1: 88,202,772 (GRCm39)	Y71N	possibly damaging	Het
Hmcn1	T	A	1: 150,556,439 (GRCm39)	E2449V	possibly damaging	Het
Igll1	G	T	16: 16,681,657 (GRCm39)	H33N	probably benign	Het
Il6	T	C	5: 30,224,512 (GRCm39)	L184P	probably damaging	Het
Impg2	T	A	16: 56,080,463 (GRCm39)	S756T	probably damaging	Het
Insyn2a	A	G	7: 134,520,207 (GRCm39)	S108P	probably damaging	Het
Kank4	T	G	4: 98,673,898 (GRCm39)	D5A	probably damaging	Het
Kcna7	G	A	7: 45,056,015 (GRCm39)	R77H	probably damaging	Het
Kcns2	A	T	15: 34,839,683 (GRCm39)	T349S	probably benign	Het
Keap1	A	G	9: 21,148,522 (GRCm39)	Y162H	probably damaging	Het
Kif9	T	C	9: 110,312,161 (GRCm39)	F10L	possibly damaging	Het
Klhdc8b	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	ACACGCACGCACGCACGCACGCACGCACGCACGCACGCACGCAC	9: 108,326,184 (GRCm39)		probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lpar6	A	G	14: 73,476,809 (GRCm39)	T257A	probably damaging	Het
Lpin1	A	T	12: 16,604,007 (GRCm39)	L608Q	probably benign	Het
Lyst	T	C	13: 13,808,989 (GRCm39)	S220P	probably benign	Het
M1ap	A	G	6: 83,005,339 (GRCm39)		probably benign	Het
Mbd6	C	T	10: 127,122,310 (GRCm39)	V173I	probably benign	Het
Myo5b	A	T	18: 74,849,105 (GRCm39)	T1115S	possibly damaging	Het
Mysm1	C	A	4: 94,839,253 (GRCm39)	V683F	possibly damaging	Het
Nlrp4g	T	A	9: 124,350,155 (GRCm38)		noncoding transcript	Het
Odad2	T	C	18: 7,088,555 (GRCm39)	M1005V	probably benign	Het
Or14c39	A	T	7: 86,344,089 (GRCm39)	M142L	probably benign	Het
Or2ak5	T	A	11: 58,611,776 (GRCm39)	I33F	probably benign	Het
Or5al6	G	T	2: 85,976,877 (GRCm39)	A67E	probably damaging	Het
Or8j3c	C	T	2: 86,253,805 (GRCm39)	G72S	possibly damaging	Het
Otud6b	T	A	4: 14,826,293 (GRCm39)	Q34L	probably damaging	Het
Parp11	C	T	6: 127,448,599 (GRCm39)	T72I	probably damaging	Het
Pbx1	T	A	1: 168,011,158 (GRCm39)	D343V	possibly damaging	Het
Phf11	T	C	14: 59,495,932 (GRCm39)		probably null	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Pramel15	C	A	4: 144,099,878 (GRCm39)	E296*	probably null	Het
Ranbp9	A	T	13: 43,588,331 (GRCm39)	I67N	probably damaging	Het
Rasgrp4	A	G	7: 28,847,832 (GRCm39)	E414G	probably damaging	Het
Rbbp5	A	G	1: 132,418,226 (GRCm39)	H15R	possibly damaging	Het
Scd2	A	G	19: 44,289,710 (GRCm39)	Y235C	probably benign	Het
Sdr16c5	C	T	4: 4,010,365 (GRCm39)	G170S	probably damaging	Het
Sh3bp4	G	T	1: 89,073,317 (GRCm39)	G722C	probably damaging	Het
Shmt1	A	T	11: 60,688,305 (GRCm39)		probably benign	Het
Slc12a1	A	G	2: 125,008,057 (GRCm39)	I206V	probably benign	Het
Slc26a3	A	G	12: 31,503,907 (GRCm39)	D304G	probably benign	Het
Slc26a7	T	A	4: 14,532,572 (GRCm39)	D434V	possibly damaging	Het
Slc6a16	G	T	7: 44,909,390 (GRCm39)	M185I	probably benign	Het
Stat4	A	G	1: 52,121,729 (GRCm39)	I363V	possibly damaging	Het
Tgfb1i1	G	T	7: 127,847,389 (GRCm39)	M1I	probably null	Het
Thoc2l	A	G	5: 104,670,124 (GRCm39)	K1549E	possibly damaging	Het
Tmem225	T	C	9: 40,060,639 (GRCm39)	V66A	probably benign	Het
Tmtc4	T	C	14: 123,178,714 (GRCm39)		probably null	Het
Trpc4	T	A	3: 54,102,217 (GRCm39)	N38K	probably benign	Het
Ttll12	A	T	15: 83,471,314 (GRCm39)	Y218N	probably damaging	Het
Ttn	A	T	2: 76,778,769 (GRCm39)		probably null	Het
Tulp1	A	C	17: 28,570,969 (GRCm39)	Y178*	probably null	Het
Vmn2r58	A	G	7: 41,513,746 (GRCm39)	V299A	probably damaging	Het
Washc4	C	A	10: 83,419,200 (GRCm39)	Q911K	possibly damaging	Het
Wdr3	T	C	3: 100,062,252 (GRCm39)	D221G	probably benign	Het
Zan	A	T	5: 137,460,155 (GRCm39)	C1245*	probably null	Het
Zfyve9	A	C	4: 108,548,866 (GRCm39)	S773A	probably benign	Het

Other mutations in Fam83h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01340:Fam83h	APN	15	75,875,885 (GRCm39)	missense	probably damaging	0.98
IGL01463:Fam83h	APN	15	75,875,637 (GRCm39)	missense	possibly damaging	0.57
IGL01789:Fam83h	APN	15	75,877,969 (GRCm39)	missense	probably damaging	1.00
IGL02029:Fam83h	APN	15	75,878,287 (GRCm39)	missense	probably damaging	1.00
IGL02157:Fam83h	APN	15	75,876,904 (GRCm39)	missense	probably damaging	1.00
IGL03225:Fam83h	APN	15	75,875,150 (GRCm39)	missense	probably damaging	1.00
PIT4260001:Fam83h	UTSW	15	75,873,746 (GRCm39)	missense	probably damaging	1.00
R0008:Fam83h	UTSW	15	75,875,811 (GRCm39)	missense	probably damaging	1.00
R0071:Fam83h	UTSW	15	75,874,377 (GRCm39)	missense	probably benign
R0318:Fam83h	UTSW	15	75,875,478 (GRCm39)	missense	probably benign	0.04
R0539:Fam83h	UTSW	15	75,875,076 (GRCm39)	missense	possibly damaging	0.88
R0638:Fam83h	UTSW	15	75,875,776 (GRCm39)	missense	probably benign	0.01
R0790:Fam83h	UTSW	15	75,875,241 (GRCm39)	missense	probably benign	0.43
R0883:Fam83h	UTSW	15	75,878,018 (GRCm39)	missense	probably damaging	1.00
R1970:Fam83h	UTSW	15	75,878,419 (GRCm39)	unclassified	probably benign
R2046:Fam83h	UTSW	15	75,874,787 (GRCm39)	missense	probably benign
R2114:Fam83h	UTSW	15	75,874,146 (GRCm39)	missense	probably damaging	1.00
R2115:Fam83h	UTSW	15	75,874,146 (GRCm39)	missense	probably damaging	1.00
R2117:Fam83h	UTSW	15	75,876,582 (GRCm39)	nonsense	probably null
R3702:Fam83h	UTSW	15	75,874,499 (GRCm39)	missense	probably benign
R3842:Fam83h	UTSW	15	75,874,499 (GRCm39)	missense	probably benign
R4729:Fam83h	UTSW	15	75,874,185 (GRCm39)	missense	probably benign
R4791:Fam83h	UTSW	15	75,874,217 (GRCm39)	missense	probably damaging	1.00
R5471:Fam83h	UTSW	15	75,874,752 (GRCm39)	missense	probably benign	0.00
R6013:Fam83h	UTSW	15	75,875,849 (GRCm39)	missense	probably damaging	0.99
R6488:Fam83h	UTSW	15	75,873,902 (GRCm39)	missense	possibly damaging	0.67
R6558:Fam83h	UTSW	15	75,876,302 (GRCm39)	missense	probably damaging	1.00
R6618:Fam83h	UTSW	15	75,875,360 (GRCm39)	missense	probably damaging	1.00
R7030:Fam83h	UTSW	15	75,876,588 (GRCm39)	missense	probably benign	0.08
R7148:Fam83h	UTSW	15	75,877,016 (GRCm39)	missense	probably damaging	0.98
R7191:Fam83h	UTSW	15	75,874,886 (GRCm39)	missense	probably damaging	1.00
R7438:Fam83h	UTSW	15	75,876,275 (GRCm39)	missense	possibly damaging	0.93
R7705:Fam83h	UTSW	15	75,875,699 (GRCm39)	missense	probably damaging	0.99
R8194:Fam83h	UTSW	15	75,874,624 (GRCm39)	small deletion	probably benign
R8218:Fam83h	UTSW	15	75,874,886 (GRCm39)	missense	probably damaging	1.00
R8282:Fam83h	UTSW	15	75,874,624 (GRCm39)	small deletion	probably benign
R8293:Fam83h	UTSW	15	75,874,624 (GRCm39)	small deletion	probably benign
R8493:Fam83h	UTSW	15	75,874,502 (GRCm39)	missense	probably benign	0.00
R8910:Fam83h	UTSW	15	75,874,844 (GRCm39)	missense	probably benign	0.01
R9025:Fam83h	UTSW	15	75,874,182 (GRCm39)	missense	probably benign	0.27
R9028:Fam83h	UTSW	15	75,875,738 (GRCm39)	missense	possibly damaging	0.54
R9099:Fam83h	UTSW	15	75,875,135 (GRCm39)	missense	probably damaging	1.00
R9320:Fam83h	UTSW	15	75,873,924 (GRCm39)	missense	possibly damaging	0.56
R9649:Fam83h	UTSW	15	75,877,976 (GRCm39)	missense	probably damaging	1.00
X0010:Fam83h	UTSW	15	75,876,788 (GRCm39)	critical splice donor site	probably null
X0061:Fam83h	UTSW	15	75,875,352 (GRCm39)	missense	probably damaging	1.00
Z1177:Fam83h	UTSW	15	75,878,390 (GRCm39)	missense	probably damaging	1.00
Z1177:Fam83h	UTSW	15	75,874,811 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCATCACTACGGCACAGTCC -3'
(R):5'- TGCTTCAAGCTCCCTCAAGG -3'

Sequencing Primer
(F):5'- TCCACAAGCAAGAACTTCTCCTTTAG -3'
(R):5'- CTCAAGGGCTACCAAGTGTC -3'

Posted On

2016-06-06