Mutagenetix > Incidental Mutation

Incidental Mutation 'R0539:Fam83h'

49735

Institutional Source

Beutler Lab

Gene Symbol

Fam83h

Ensembl Gene

ENSMUSG00000046761

Gene Name

family with sequence similarity 83, member H

Synonyms

MMRRC Submission

038731-MU

Accession Numbers

Essential gene?

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

Stock #

R0539 (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 75875076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 754 (S754G)

Ref Sequence

ENSEMBL: ENSMUSP00000126453 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060807] [ENSMUST00000089669] [ENSMUST00000170153]

AlphaFold

Q148V8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060807
AA Change: S754G

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000059839
Gene: ENSMUSG00000046761
AA Change: S754G

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 benign
Transcript: ENSMUST00000089669

SMART Domains

Protein: ENSMUSP00000087098
Gene: ENSMUSG00000063704

Domain	Start	End	E-Value	Type
S_TKc	14	305	7.08e-97	SMART
low complexity region	391	404	N/A	INTRINSIC
low complexity region	424	434	N/A	INTRINSIC
low complexity region	475	505	N/A	INTRINSIC
low complexity region	513	525	N/A	INTRINSIC
low complexity region	538	548	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160092

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160637

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170153
AA Change: S754G

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126453
Gene: ENSMUSG00000046761
AA Change: S754G

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

probably benign
Transcript: ENSMUST00000230929

Meta Mutation Damage Score

0.0803

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

100% (107/107)

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	T	A	5: 48,536,692 (GRCm39)	H129Q	probably damaging	Het
Abca14	G	A	7: 119,807,020 (GRCm39)	R22Q	probably damaging	Het
Abcg5	T	A	17: 84,976,503 (GRCm39)	M445L	probably benign	Het
Abhd3	T	A	18: 10,645,208 (GRCm39)	N357I	possibly damaging	Het
Adamts5	C	T	16: 85,665,580 (GRCm39)	G574S	probably damaging	Het
Adgrg5	T	A	8: 95,665,260 (GRCm39)	N389K	probably damaging	Het
Ankk1	A	G	9: 49,329,330 (GRCm39)	V80A	probably benign	Het
Arhgap20	A	G	9: 51,761,455 (GRCm39)	Q1066R	probably benign	Het
Arhgap21	T	A	2: 20,919,610 (GRCm39)	K32*	probably null	Het
AW209491	T	C	13: 14,812,317 (GRCm39)	F390S	probably damaging	Het
Axl	A	T	7: 25,478,142 (GRCm39)		probably benign	Het
Bri3bp	A	G	5: 125,531,603 (GRCm39)	Y183C	probably damaging	Het
Cad	T	C	5: 31,232,801 (GRCm39)		probably benign	Het
Capns2	A	G	8: 93,628,360 (GRCm39)	Q83R	possibly damaging	Het
Ccdc180	G	T	4: 45,922,010 (GRCm39)	R1028L	probably damaging	Het
Cdh19	C	A	1: 110,852,892 (GRCm39)	V348F	possibly damaging	Het
Chrm2	T	C	6: 36,500,641 (GRCm39)	V166A	possibly damaging	Het
Clmp	A	G	9: 40,693,782 (GRCm39)	Y333C	probably benign	Het
Cntn3	A	G	6: 102,254,178 (GRCm39)		probably null	Het
Copz1	A	G	15: 103,199,792 (GRCm39)	Y69C	probably damaging	Het
Crybg1	T	C	10: 43,874,894 (GRCm39)	D738G	probably benign	Het
Ctnna2	T	A	6: 76,950,882 (GRCm39)	I165F	probably damaging	Het
Dcaf7	T	G	11: 105,942,652 (GRCm39)	S200A	probably damaging	Het
Deup1	T	A	9: 15,493,893 (GRCm39)	R416S	possibly damaging	Het
Dmxl1	T	A	18: 49,990,497 (GRCm39)		probably benign	Het
Dnaaf11	A	T	15: 66,319,455 (GRCm39)	V305D	probably damaging	Het
Dnase2b	A	T	3: 146,294,910 (GRCm39)		probably benign	Het
Dst	C	T	1: 34,228,200 (GRCm39)	P1606L	probably damaging	Het
Eef2	C	CN	10: 81,014,602 (GRCm39)		probably null	Het
Ephb2	T	C	4: 136,383,287 (GRCm39)	Y931C	probably damaging	Het
Fibp	T	A	19: 5,513,216 (GRCm39)	V177D	probably damaging	Het
Gfpt2	T	C	11: 49,723,725 (GRCm39)	I571T	probably damaging	Het
Grm7	T	G	6: 111,336,055 (GRCm39)		probably benign	Het
Gsdma3	A	G	11: 98,526,745 (GRCm39)	Y335C	probably damaging	Het
H2-T23	A	T	17: 36,343,033 (GRCm39)		probably benign	Het
H4c3	A	G	13: 23,882,131 (GRCm39)	F101S	probably damaging	Het
Hydin	A	G	8: 111,249,704 (GRCm39)	I2216V	probably benign	Het
Ipo8	A	G	6: 148,719,606 (GRCm39)	M113T	probably benign	Het
Kdm6a	A	G	X: 18,128,664 (GRCm39)	E1045G	probably damaging	Het
Kyat1	C	T	2: 30,078,229 (GRCm39)	E117K	probably damaging	Het
Lin7b	A	G	7: 45,019,326 (GRCm39)		probably benign	Het
Lipn	G	A	19: 34,062,003 (GRCm39)		probably benign	Het
Lrfn2	C	A	17: 49,378,072 (GRCm39)	N384K	probably damaging	Het
Map1b	T	C	13: 99,570,526 (GRCm39)	K732E	unknown	Het
Mpl	A	G	4: 118,300,705 (GRCm39)	M541T	possibly damaging	Het
Mprip	T	C	11: 59,631,943 (GRCm39)		probably benign	Het
Mrc1	T	C	2: 14,274,937 (GRCm39)		probably benign	Het
Ms4a13	T	C	19: 11,149,235 (GRCm39)		probably benign	Het
Myo18b	G	T	5: 112,871,734 (GRCm39)	R2116S	probably damaging	Het
Nav2	A	G	7: 49,111,686 (GRCm39)	T731A	probably damaging	Het
Ncoa6	G	T	2: 155,257,617 (GRCm39)	A642D	probably benign	Het
Ndufs7	T	A	10: 80,090,665 (GRCm39)		probably benign	Het
Nfkbiz	G	A	16: 55,638,242 (GRCm39)	T406M	probably benign	Het
Nr4a1	A	G	15: 101,168,765 (GRCm39)	E267G	probably damaging	Het
Nrxn2	T	G	19: 6,543,434 (GRCm39)	F1103V	probably damaging	Het
Or10ab4	C	T	7: 107,655,029 (GRCm39)	T280I	probably damaging	Het
Or10d3	A	T	9: 39,461,593 (GRCm39)	D191E	probably damaging	Het
Or1e22	T	C	11: 73,376,889 (GRCm39)	T254A	probably benign	Het
Or5a3	C	T	19: 12,400,173 (GRCm39)	L167F	probably damaging	Het
Or5g27	T	A	2: 85,410,119 (GRCm39)	C179S	probably damaging	Het
Or5m11	G	T	2: 85,782,353 (GRCm39)	M315I	probably benign	Het
Or8u9	A	T	2: 86,001,387 (GRCm39)	M258K	probably damaging	Het
Phf1	A	G	17: 27,153,432 (GRCm39)		probably null	Het
Pip	C	T	6: 41,826,819 (GRCm39)	Q53*	probably null	Het
Ppp2ca	T	C	11: 52,008,989 (GRCm39)		probably null	Het
Prl2c5	A	G	13: 13,363,906 (GRCm39)		probably null	Het
Psph	T	A	5: 129,843,641 (GRCm39)		probably benign	Het
Ptch1	C	T	13: 63,691,294 (GRCm39)		probably benign	Het
Ptprs	C	T	17: 56,765,255 (GRCm39)	V10M	probably damaging	Het
Rarg	T	C	15: 102,147,312 (GRCm39)	R358G	probably damaging	Het
Rbl2	T	C	8: 91,839,133 (GRCm39)		probably benign	Het
Robo2	A	T	16: 73,782,462 (GRCm39)		probably benign	Het
Scin	A	T	12: 40,131,765 (GRCm39)	D256E	possibly damaging	Het
Scn8a	T	C	15: 100,914,449 (GRCm39)	Y1152H	probably damaging	Het
Sh2b2	T	G	5: 136,254,155 (GRCm39)		probably benign	Het
Slc13a2	G	A	11: 78,289,964 (GRCm39)	P450L	probably damaging	Het
Slc2a12	A	G	10: 22,568,129 (GRCm39)	I519V	probably benign	Het
Slc30a9	C	T	5: 67,491,953 (GRCm39)	T260M	probably damaging	Het
Slc9a7	A	T	X: 20,069,001 (GRCm39)	F184Y	probably damaging	Het
Smc2	G	T	4: 52,458,558 (GRCm39)	K466N	probably benign	Het
Snx16	T	C	3: 10,491,278 (GRCm39)	E209G	probably damaging	Het
Sp3	A	T	2: 72,800,876 (GRCm39)	I423N	possibly damaging	Het
Ssh2	G	T	11: 77,345,620 (GRCm39)	V1202F	probably benign	Het
Stam2	A	T	2: 52,593,268 (GRCm39)		probably benign	Het
Stox2	T	C	8: 47,647,070 (GRCm39)	Y194C	probably damaging	Het
Sult3a1	A	G	10: 33,742,519 (GRCm39)	T49A	probably damaging	Het
Supt3	A	T	17: 45,314,018 (GRCm39)	I136F	possibly damaging	Het
Syne2	A	T	12: 76,070,895 (GRCm39)	R103S	possibly damaging	Het
Synj2	T	A	17: 6,047,163 (GRCm39)	M1K	probably null	Het
Tas2r110	T	C	6: 132,845,334 (GRCm39)	S122P	possibly damaging	Het
Tln1	A	G	4: 43,543,434 (GRCm39)		probably null	Het
Tmem117	A	G	15: 94,612,793 (GRCm39)	T110A	possibly damaging	Het
Tmem247	A	G	17: 87,224,906 (GRCm39)	D5G	probably benign	Het
Tmem39a	T	A	16: 38,411,337 (GRCm39)	F363I	probably benign	Het
Tmem80	G	A	7: 140,915,808 (GRCm39)	A73T	possibly damaging	Het
Trpm4	C	T	7: 44,954,896 (GRCm39)	G901S	probably damaging	Het
Upk3bl	T	C	5: 136,092,840 (GRCm39)		probably benign	Het
Vmn1r120	A	T	7: 20,787,397 (GRCm39)	C105S	probably damaging	Het
Vmn1r69	A	T	7: 10,314,874 (GRCm39)		probably benign	Het
Vmn2r95	T	C	17: 18,672,362 (GRCm39)	F700L	probably damaging	Het
Wdr70	G	A	15: 7,915,118 (GRCm39)	T550M	possibly damaging	Het
Zbtb22	A	G	17: 34,137,118 (GRCm39)	D421G	possibly damaging	Het
Zbtb45	G	A	7: 12,740,260 (GRCm39)	R452C	probably damaging	Het
Zfhx3	T	C	8: 109,527,141 (GRCm39)	Y1013H	probably damaging	Het
Zfp329	C	T	7: 12,540,520 (GRCm39)		probably null	Het
Zfp532	T	A	18: 65,756,837 (GRCm39)	S257T	probably benign	Het
Zfp933	G	A	4: 147,911,005 (GRCm39)	T197I	probably benign	Het
Zgrf1	T	A	3: 127,408,841 (GRCm39)	N1649K	probably damaging	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
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
R5024:Fam83h	UTSW	15	75,876,991 (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'- TCCATCAATCCTGTGGTTGGGCTG -3'
(R):5'- AGGTTGCGCTCATCACTCATCTTTG -3'

Sequencing Primer
(F):5'- CCCTTTGGCTCAGAATAAGGC -3'
(R):5'- TTTGCGTCCCAGGCTGAG -3'

Posted On

2013-06-12