Mutagenetix > Incidental Mutation

Incidental Mutation 'R7148:Fam83h'

553976

Institutional Source

Beutler Lab

Gene Symbol

Fam83h

Ensembl Gene

ENSMUSG00000046761

Gene Name

family with sequence similarity 83, member H

Synonyms

MMRRC Submission

045225-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.337) question?

Stock #

R7148 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75872942-75886185 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 75877016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 194 (D194Y)

Ref Sequence

ENSEMBL: ENSMUSP00000059839 (fasta)

Gene Model

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

AlphaFold

Q148V8

Predicted Effect

probably damaging
Transcript: ENSMUST00000060807
AA Change: D194Y

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000059839
Gene: ENSMUSG00000046761
AA Change: D194Y

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: D194Y

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126453
Gene: ENSMUSG00000046761
AA Change: D194Y

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: ENSMUST00000187868

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024G13Rik	T	A	14: 32,110,269 (GRCm39)	Y14F	probably damaging	Het
Acly	A	G	11: 100,374,608 (GRCm39)	V805A	possibly damaging	Het
Apcdd1	T	C	18: 63,084,916 (GRCm39)	V371A	probably damaging	Het
Cacna1g	A	T	11: 94,356,756 (GRCm39)	F127I	probably benign	Het
Ccdc138	T	C	10: 58,374,102 (GRCm39)	L374P	probably damaging	Het
Ces2b	A	G	8: 105,564,928 (GRCm39)	Y504C	probably damaging	Het
Ces5a	C	T	8: 94,228,950 (GRCm39)	G427S	probably damaging	Het
Chd1l	C	T	3: 97,498,632 (GRCm39)	V256M	probably damaging	Het
Col24a1	C	T	3: 145,021,060 (GRCm39)	T477M	probably damaging	Het
Dmbt1	T	A	7: 130,668,464 (GRCm39)	C573*	probably null	Het
Emcn	A	T	3: 137,122,855 (GRCm39)	Y188F	possibly damaging	Het
Eva1a	T	G	6: 82,048,125 (GRCm39)	M1R	probably null	Het
Fam243	T	C	16: 92,117,875 (GRCm39)	K138E	probably benign	Het
Flywch1	T	C	17: 23,974,649 (GRCm39)	K664E	probably benign	Het
Fzd9	A	G	5: 135,278,544 (GRCm39)	V447A	probably benign	Het
Heatr5b	T	C	17: 79,138,863 (GRCm39)	D93G	probably damaging	Het
Hmcn1	T	C	1: 150,562,605 (GRCm39)	I2318V	probably benign	Het
Hyal5	T	A	6: 24,876,901 (GRCm39)	L258Q	probably damaging	Het
Itprid1	T	C	6: 55,874,671 (GRCm39)	I207T	probably damaging	Het
Kmo	T	A	1: 175,479,168 (GRCm39)	C235S	probably damaging	Het
Lamc2	G	A	1: 153,061,730 (GRCm39)	P2S	probably benign	Het
Lman2	G	A	13: 55,500,762 (GRCm39)	P146S	probably benign	Het
Mars2	T	C	1: 55,276,673 (GRCm39)	I92T	probably damaging	Het
Msh3	A	G	13: 92,491,330 (GRCm39)	F27L	probably benign	Het
Myom2	T	C	8: 15,134,577 (GRCm39)	V460A	possibly damaging	Het
Nicn1	T	A	9: 108,172,306 (GRCm39)	*214R	probably null	Het
Nsd2	T	C	5: 34,042,855 (GRCm39)	F1040L	possibly damaging	Het
Or1ab2	T	A	8: 72,864,001 (GRCm39)	I197N	possibly damaging	Het
Osm	T	A	11: 4,189,936 (GRCm39)	I240N	probably benign	Het
Pard3b	T	A	1: 62,479,191 (GRCm39)	D884E	probably benign	Het
Pex5	T	G	6: 124,382,231 (GRCm39)	D150A	probably benign	Het
Pfkfb4	T	C	9: 108,856,676 (GRCm39)	V394A	probably damaging	Het
Pjvk	A	G	2: 76,488,831 (GRCm39)	K334R	possibly damaging	Het
Pkd1l2	T	C	8: 117,807,525 (GRCm39)	D171G	probably benign	Het
Prpf4b	T	G	13: 35,078,455 (GRCm39)	N688K	probably benign	Het
R3hcc1	T	C	14: 69,943,001 (GRCm39)	E192G	possibly damaging	Het
Rad54l2	C	A	9: 106,596,318 (GRCm39)	G207*	probably null	Het
Rhobtb3	G	T	13: 76,059,006 (GRCm39)	T264K	probably benign	Het
Rpl27	A	G	11: 101,333,232 (GRCm39)		probably benign	Het
Rxfp3	C	T	15: 11,036,863 (GRCm39)	V170I	possibly damaging	Het
Samd4	T	A	14: 47,254,140 (GRCm39)	S201R	probably benign	Het
Sell	A	G	1: 163,893,176 (GRCm39)	I131V	possibly damaging	Het
Semp2l2a	T	A	8: 13,887,996 (GRCm39)	I32L	probably benign	Het
Sirpb1c	A	T	3: 15,887,223 (GRCm39)	Y205*	probably null	Het
Smc3	A	T	19: 53,630,326 (GRCm39)	E1111V	possibly damaging	Het
Sowaha	C	A	11: 53,370,182 (GRCm39)	V185L	probably benign	Het
Spata4	A	C	8: 55,055,585 (GRCm39)	I159L	probably benign	Het
Spring1	A	G	5: 118,393,759 (GRCm39)	N46D	probably benign	Het
Tekt2	A	G	4: 126,216,174 (GRCm39)	I373T	probably benign	Het
Tle7	G	T	8: 110,836,048 (GRCm39)	R119I	probably benign	Het
Tomm20l	T	C	12: 71,164,313 (GRCm39)	V65A	probably benign	Het
Trabd2b	A	G	4: 114,266,547 (GRCm39)	D187G	probably damaging	Het
Trrap	A	G	5: 144,758,613 (GRCm39)	I2147V	possibly damaging	Het
Tsc22d2	T	A	3: 58,324,429 (GRCm39)	C440*	probably null	Het
Ube3b	A	C	5: 114,544,313 (GRCm39)	N570T	probably damaging	Het
Uevld	A	G	7: 46,600,724 (GRCm39)	I70T	probably damaging	Het
Usp10	C	T	8: 120,663,289 (GRCm39)	T37I	possibly damaging	Het
Vmn2r23	T	A	6: 123,689,981 (GRCm39)	F286I	probably benign	Het
Vmn2r62	A	G	7: 42,414,640 (GRCm39)	V601A	probably benign	Het
Wdr81	G	C	11: 75,336,828 (GRCm39)	N401K		Het
Ythdc2	G	T	18: 44,966,189 (GRCm39)	V142F	probably benign	Het
Zfp346	T	C	13: 55,253,263 (GRCm39)	F36S	possibly damaging	Het
Zfp748	C	T	13: 67,690,358 (GRCm39)	V301M	possibly damaging	Het
Zim1	T	C	7: 6,681,220 (GRCm39)	K148E	possibly 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
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
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
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'- TGGCCCTTGAAAGACTTCCC -3'
(R):5'- AATTCATGACCAGTCTCTCCTG -3'

Sequencing Primer
(F):5'- TTGAAAGACTTCCCAGTGCG -3'
(R):5'- AGGATGACCAGGCCCTTC -3'

Posted On

2019-05-15