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?

Probably non essential (E-score: 0.244) question?

Stock #

R7148 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76001093-76014336 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 76005167 bp (GRCm38)

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: 32,388,312	Y14F	probably damaging	Het
2410131K14Rik	A	G	5: 118,255,694	N46D	probably benign	Het
4930563D23Rik	T	C	16: 92,320,987	K138E	probably benign	Het
Acly	A	G	11: 100,483,782	V805A	possibly damaging	Het
AF366264	T	A	8: 13,837,996	I32L	probably benign	Het
Apcdd1	T	C	18: 62,951,845	V371A	probably damaging	Het
Cacna1g	A	T	11: 94,465,930	F127I	probably benign	Het
Ccdc129	T	C	6: 55,897,686	I207T	probably damaging	Het
Ccdc138	T	C	10: 58,538,280	L374P	probably damaging	Het
Ces2b	A	G	8: 104,838,296	Y504C	probably damaging	Het
Ces5a	C	T	8: 93,502,322	G427S	probably damaging	Het
Chd1l	C	T	3: 97,591,316	V256M	probably damaging	Het
Col24a1	C	T	3: 145,315,299	T477M	probably damaging	Het
Dmbt1	T	A	7: 131,066,734	C573*	probably null	Het
Emcn	A	T	3: 137,417,094	Y188F	possibly damaging	Het
Eva1a	T	G	6: 82,071,144	M1R	probably null	Het
Flywch1	T	C	17: 23,755,675	K664E	probably benign	Het
Fzd9	A	G	5: 135,249,690	V447A	probably benign	Het
Gm21964	G	T	8: 110,109,416	R119I	probably benign	Het
Heatr5b	T	C	17: 78,831,434	D93G	probably damaging	Het
Hmcn1	T	C	1: 150,686,854	I2318V	probably benign	Het
Hyal5	T	A	6: 24,876,902	L258Q	probably damaging	Het
Kmo	T	A	1: 175,651,602	C235S	probably damaging	Het
Lamc2	G	A	1: 153,185,984	P2S	probably benign	Het
Lman2	G	A	13: 55,352,949	P146S	probably benign	Het
Mars2	T	C	1: 55,237,514	I92T	probably damaging	Het
Msh3	A	G	13: 92,354,822	F27L	probably benign	Het
Myom2	T	C	8: 15,084,577	V460A	possibly damaging	Het
Nicn1	T	A	9: 108,295,107	*214R	probably null	Het
Nsd2	T	C	5: 33,885,511	F1040L	possibly damaging	Het
Olfr374	T	A	8: 72,110,157	I197N	possibly damaging	Het
Osm	T	A	11: 4,239,936	I240N	probably benign	Het
Pard3b	T	A	1: 62,440,032	D884E	probably benign	Het
Pex5	T	G	6: 124,405,272	D150A	probably benign	Het
Pfkfb4	T	C	9: 109,027,608	V394A	probably damaging	Het
Pjvk	A	G	2: 76,658,487	K334R	possibly damaging	Het
Pkd1l2	T	C	8: 117,080,786	D171G	probably benign	Het
Prpf4b	T	G	13: 34,894,472	N688K	probably benign	Het
R3hcc1	T	C	14: 69,705,552	E192G	possibly damaging	Het
Rad54l2	C	A	9: 106,719,119	G207*	probably null	Het
Rhobtb3	G	T	13: 75,910,887	T264K	probably benign	Het
Rpl27	A	G	11: 101,442,406		probably benign	Het
Rxfp3	C	T	15: 11,036,777	V170I	possibly damaging	Het
Samd4	T	A	14: 47,016,683	S201R	probably benign	Het
Sell	A	G	1: 164,065,607	I131V	possibly damaging	Het
Sirpb1c	A	T	3: 15,833,059	Y205*	probably null	Het
Smc3	A	T	19: 53,641,895	E1111V	possibly damaging	Het
Sowaha	C	A	11: 53,479,355	V185L	probably benign	Het
Spata4	A	C	8: 54,602,550	I159L	probably benign	Het
Tekt2	A	G	4: 126,322,381	I373T	probably benign	Het
Tomm20l	T	C	12: 71,117,539	V65A	probably benign	Het
Trabd2b	A	G	4: 114,409,350	D187G	probably damaging	Het
Trrap	A	G	5: 144,821,803	I2147V	possibly damaging	Het
Tsc22d2	T	A	3: 58,417,008	C440*	probably null	Het
Ube3b	A	C	5: 114,406,252	N570T	probably damaging	Het
Uevld	A	G	7: 46,950,976	I70T	probably damaging	Het
Usp10	C	T	8: 119,936,550	T37I	possibly damaging	Het
Vmn2r23	T	A	6: 123,713,022	F286I	probably benign	Het
Vmn2r62	A	G	7: 42,765,216	V601A	probably benign	Het
Wdr81	G	C	11: 75,446,002	N401K		Het
Ythdc2	G	T	18: 44,833,122	V142F	probably benign	Het
Zfp346	T	C	13: 55,105,450	F36S	possibly damaging	Het
Zfp748	C	T	13: 67,542,239	V301M	possibly damaging	Het
Zim1	T	C	7: 6,678,221	K148E	possibly damaging	Het

Other mutations in Fam83h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01340:Fam83h	APN	15	76004036	missense	probably damaging	0.98
IGL01463:Fam83h	APN	15	76003788	missense	possibly damaging	0.57
IGL01789:Fam83h	APN	15	76006120	missense	probably damaging	1.00
IGL02029:Fam83h	APN	15	76006438	missense	probably damaging	1.00
IGL02157:Fam83h	APN	15	76005055	missense	probably damaging	1.00
IGL03225:Fam83h	APN	15	76003301	missense	probably damaging	1.00
PIT4260001:Fam83h	UTSW	15	76001897	missense	probably damaging	1.00
R0008:Fam83h	UTSW	15	76003962	missense	probably damaging	1.00
R0071:Fam83h	UTSW	15	76002528	missense	probably benign
R0318:Fam83h	UTSW	15	76003629	missense	probably benign	0.04
R0539:Fam83h	UTSW	15	76003227	missense	possibly damaging	0.88
R0638:Fam83h	UTSW	15	76003927	missense	probably benign	0.01
R0790:Fam83h	UTSW	15	76003392	missense	probably benign	0.43
R0883:Fam83h	UTSW	15	76006169	missense	probably damaging	1.00
R1970:Fam83h	UTSW	15	76006570	unclassified	probably benign
R2046:Fam83h	UTSW	15	76002938	missense	probably benign
R2114:Fam83h	UTSW	15	76002297	missense	probably damaging	1.00
R2115:Fam83h	UTSW	15	76002297	missense	probably damaging	1.00
R2117:Fam83h	UTSW	15	76004733	nonsense	probably null
R3702:Fam83h	UTSW	15	76002650	missense	probably benign
R3842:Fam83h	UTSW	15	76002650	missense	probably benign
R4729:Fam83h	UTSW	15	76002336	missense	probably benign
R4791:Fam83h	UTSW	15	76002368	missense	probably damaging	1.00
R5024:Fam83h	UTSW	15	76005142	missense	probably damaging	1.00
R5471:Fam83h	UTSW	15	76002903	missense	probably benign	0.00
R6013:Fam83h	UTSW	15	76004000	missense	probably damaging	0.99
R6488:Fam83h	UTSW	15	76002053	missense	possibly damaging	0.67
R6558:Fam83h	UTSW	15	76004453	missense	probably damaging	1.00
R6618:Fam83h	UTSW	15	76003511	missense	probably damaging	1.00
R7030:Fam83h	UTSW	15	76004739	missense	probably benign	0.08
R7191:Fam83h	UTSW	15	76003037	missense	probably damaging	1.00
R7438:Fam83h	UTSW	15	76004426	missense	possibly damaging	0.93
R7705:Fam83h	UTSW	15	76003850	missense	probably damaging	0.99
R8194:Fam83h	UTSW	15	76002775	small deletion	probably benign
R8218:Fam83h	UTSW	15	76003037	missense	probably damaging	1.00
R8282:Fam83h	UTSW	15	76002775	small deletion	probably benign
R8293:Fam83h	UTSW	15	76002775	small deletion	probably benign
R8493:Fam83h	UTSW	15	76002653	missense	probably benign	0.00
R8910:Fam83h	UTSW	15	76002995	missense	probably benign	0.01
R9025:Fam83h	UTSW	15	76002333	missense	probably benign	0.27
R9028:Fam83h	UTSW	15	76003889	missense	possibly damaging	0.54
R9099:Fam83h	UTSW	15	76003286	missense	probably damaging	1.00
R9320:Fam83h	UTSW	15	76002075	missense	possibly damaging	0.56
R9649:Fam83h	UTSW	15	76006127	missense	probably damaging	1.00
X0010:Fam83h	UTSW	15	76004939	critical splice donor site	probably null
X0061:Fam83h	UTSW	15	76003503	missense	probably damaging	1.00
Z1177:Fam83h	UTSW	15	76002962	missense	probably benign	0.00
Z1177:Fam83h	UTSW	15	76006541	missense	probably damaging	1.00

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