Mutagenetix > Incidental Mutation

Incidental Mutation 'R1970:Fam83h'

277477

Institutional Source

Beutler Lab

Gene Symbol

Fam83h

Ensembl Gene

ENSMUSG00000046761

Gene Name

family with sequence similarity 83, member H

Synonyms

MMRRC Submission

039983-MU

Accession Numbers

Essential gene?

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

Stock #

R1970 (G1)

Quality Score

113

Status

Validated

Chromosome

Chromosomal Location

76001093-76014336 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 76006570 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146582 (fasta)

Gene Model

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

AlphaFold

Q148V8

Predicted Effect

probably benign
Transcript: ENSMUST00000060807

SMART Domains

Protein: ENSMUSP00000059839
Gene: ENSMUSG00000046761

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: ENSMUST00000170153

SMART Domains

Protein: ENSMUSP00000126453
Gene: ENSMUSG00000046761

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

97% (121/125)

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: 121 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,307,575	H578Q	probably benign	Het
Abcc12	A	G	8: 86,527,281	I958T	probably benign	Het
Abcg5	AATCATTTG	AG	17: 84,673,602		probably null	Het
Acap2	A	G	16: 31,133,527		probably null	Het
Adgrb1	T	C	15: 74,539,877		probably benign	Het
Akap6	T	A	12: 52,938,475	V897E	probably damaging	Het
Als2	A	T	1: 59,215,169	L343Q	probably benign	Het
Arhgap5	A	G	12: 52,542,593	I1275M	probably damaging	Het
Arnt	C	T	3: 95,448,393	S16L	possibly damaging	Het
Bglap3	C	T	3: 88,376,993		probably benign	Het
Blnk	T	C	19: 40,940,165		probably benign	Het
C1qtnf4	T	C	2: 90,889,659	M92T	probably damaging	Het
C77080	A	G	4: 129,226,017		probably benign	Het
Ccdc177	G	A	12: 80,758,712	R263C	unknown	Het
Ccdc83	T	A	7: 90,244,154	S132C	probably damaging	Het
Cdc7	A	G	5: 106,973,074		probably benign	Het
Cgnl1	T	A	9: 71,725,535	N178I	probably benign	Het
Col27a1	C	T	4: 63,273,117		probably benign	Het
Col5a1	A	T	2: 27,986,754	M822L	unknown	Het
Coro7	T	C	16: 4,633,756	I451V	probably benign	Het
Csmd3	T	C	15: 48,673,531	T92A	probably damaging	Het
Ddc	A	G	11: 11,815,292	V460A	possibly damaging	Het
Ddx4	C	T	13: 112,600,013	V608I	probably damaging	Het
Ddx60	A	T	8: 61,972,206	H676L	possibly damaging	Het
Dmtf1	T	C	5: 9,148,989	E48G	probably benign	Het
Dpf3	T	A	12: 83,325,035		probably null	Het
Dydc2	A	G	14: 41,061,903	C88R	probably benign	Het
Elovl4	A	G	9: 83,780,719	Y163H	probably damaging	Het
Enpp2	T	C	15: 54,882,982	D296G	probably damaging	Het
Fbf1	T	A	11: 116,151,491	Q511L	possibly damaging	Het
Fhdc1	A	T	3: 84,454,851	L323Q	probably damaging	Het
Fmnl2	T	A	2: 53,105,576	V437D	possibly damaging	Het
Foxo3	A	G	10: 42,197,262	S420P	probably benign	Het
Foxp4	C	T	17: 47,875,871	R378Q	unknown	Het
Garem2	G	T	5: 30,117,174	G844*	probably null	Het
Glmp	T	C	3: 88,327,870	L269S	probably damaging	Het
Gm2000	T	G	1: 156,366,447	*124G	probably null	Het
Gm9915	T	C	1: 42,230,721		noncoding transcript	Het
Gnb4	A	T	3: 32,598,141	D27E	probably damaging	Het
Gnb5	A	G	9: 75,344,650		probably null	Het
Gpr161	T	G	1: 165,306,358	V63G	probably damaging	Het
Gsk3a	T	A	7: 25,229,721		probably benign	Het
Hapln2	T	C	3: 88,024,120		probably null	Het
Incenp	G	T	19: 9,885,487	T401N	unknown	Het
Kalrn	A	G	16: 33,977,524		probably null	Het
Kcnq3	A	G	15: 66,028,623		probably null	Het
Kif21b	T	C	1: 136,171,156	V1394A	probably damaging	Het
Klhl23	T	C	2: 69,833,686	C460R	probably damaging	Het
L3mbtl1	G	A	2: 162,959,572	A291T	probably damaging	Het
Lcp1	T	C	14: 75,200,506	S119P	probably damaging	Het
Ldhc	A	G	7: 46,869,751	I133V	probably benign	Het
Lmntd2	G	A	7: 141,212,059		probably benign	Het
Lpl	A	T	8: 68,896,802	K327*	probably null	Het
Lrp1b	T	C	2: 40,875,069	D2801G	probably damaging	Het
Mppe1	C	A	18: 67,229,772	A131S	probably benign	Het
Msh3	T	A	13: 92,249,820		probably benign	Het
Msh5	A	G	17: 35,033,600	I377T	probably damaging	Het
Myo1e	T	C	9: 70,368,773	F757L	probably benign	Het
Myof	A	T	19: 37,945,634	D955E	probably damaging	Het
Nckap1	C	T	2: 80,517,942	S889N	probably benign	Het
Ncor2	T	C	5: 125,038,918	D858G	probably damaging	Het
Neb	A	T	2: 52,263,905	V2398D	possibly damaging	Het
Nefl	C	G	14: 68,086,672	T453R	probably benign	Het
Nf1	A	G	11: 79,553,961	N371D	probably benign	Het
Nlrp4f	T	C	13: 65,194,091	Y580C	probably damaging	Het
Nme8	A	C	13: 19,652,322	L228R	probably damaging	Het
Numa1	C	T	7: 102,009,322	A1605V	probably damaging	Het
Ofd1	T	C	X: 166,427,214	Y205C	probably benign	Het
Olfr1047	T	A	2: 86,228,252	T240S	probably damaging	Het
Olfr1283	C	T	2: 111,369,076	S148L	probably benign	Het
Olfr1532-ps1	G	A	7: 106,914,246	G16D	probably damaging	Het
Olfr693	T	A	7: 106,677,670	N272I	probably damaging	Het
Olfr972	T	A	9: 39,873,938	I221N	probably damaging	Het
Pclo	A	G	5: 14,713,473	T3987A	unknown	Het
Pdgfrb	G	A	18: 61,066,494		probably benign	Het
Pdxk	G	A	10: 78,441,154	T270I	probably damaging	Het
Pex5	T	C	6: 124,414,405	E10G	probably damaging	Het
Pik3c2g	T	A	6: 139,900,386		probably null	Het
Pkhd1	T	A	1: 20,381,523	I2183F	probably damaging	Het
Plppr2	T	C	9: 21,941,126	V102A	probably damaging	Het
Plxnd1	T	C	6: 115,962,517	T1449A	probably damaging	Het
Pnkd	T	A	1: 74,285,910		probably null	Het
Pom121l2	A	G	13: 21,983,472	I638V	probably damaging	Het
Prag1	A	G	8: 36,129,160		probably null	Het
Ranbp10	A	G	8: 105,786,708	F191L	probably damaging	Het
Rapgef1	T	C	2: 29,733,711	L824P	probably damaging	Het
Rec8	T	C	14: 55,624,142	L418P	probably damaging	Het
Rimbp2	T	A	5: 128,797,241	N429Y	probably damaging	Het
Rpe65	C	A	3: 159,615,670	T373K	probably benign	Het
Rrn3	T	C	16: 13,789,074	S151P	probably damaging	Het
Scn7a	A	G	2: 66,684,289	V1047A	possibly damaging	Het
Scn9a	G	T	2: 66,515,380	P1123Q	probably damaging	Het
Secisbp2l	T	C	2: 125,747,510	D706G	probably damaging	Het
Serpina5	A	T	12: 104,103,857	T338S	probably benign	Het
Sez6	G	A	11: 77,954,068		probably null	Het
Shisa4	C	T	1: 135,372,274	G157D	probably damaging	Het
Slc1a7	G	T	4: 107,968,585	D14Y	probably benign	Het
Slc25a11	A	C	11: 70,646,173	L51V	probably benign	Het
Slit3	A	G	11: 35,630,841		probably null	Het
Spata13	G	T	14: 60,691,463	G157W	probably damaging	Het
Spta1	T	C	1: 174,240,367	V2120A	possibly damaging	Het
Srpr	T	C	9: 35,213,538		probably null	Het
Syt6	A	G	3: 103,587,420	I234V	probably benign	Het
Thada	G	T	17: 84,310,042	P1349T	probably damaging	Het
Tmem161a	C	T	8: 70,176,909	R58W	probably damaging	Het
Top3b	A	G	16: 16,883,519	I232V	probably damaging	Het
Tspan1	T	A	4: 116,163,629	Q197L	possibly damaging	Het
Ttc28	A	C	5: 111,235,635	Y1334S	probably benign	Het
Ubxn6	G	T	17: 56,073,077	N28K	possibly damaging	Het
Uggt1	T	C	1: 36,151,781	D1366G	probably damaging	Het
Ugp2	A	G	11: 21,328,942	S415P	probably damaging	Het
Vcan	A	T	13: 89,689,038	S2796T	probably damaging	Het
Vipr2	T	C	12: 116,136,206	V231A	probably benign	Het
Vmn1r176	T	C	7: 23,834,948	N260S	probably benign	Het
Vmn1r59	A	T	7: 5,454,039	Y241N	probably damaging	Het
Vmn2r67	A	T	7: 85,151,805	Y308N	probably benign	Het
Vmn2r75	A	T	7: 86,148,262	M781K	probably damaging	Het
Vwa3a	A	T	7: 120,780,171	I500F	probably damaging	Het
Zfp609	A	G	9: 65,795,277	V31A	probably damaging	Het
Zfp689	G	T	7: 127,444,787	Q224K	probably damaging	Het
Zfp81	A	T	17: 33,335,501	L113H	probably benign	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
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
R7148:Fam83h	UTSW	15	76005167	missense	probably damaging	0.98
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'- ACGTGTTCCAGTTCCTCAGG -3'
(R):5'- CCATGTCTTACCAGCTAGGCAC -3'

Sequencing Primer
(F):5'- TTCCTCAGGGCACAGGAAGTC -3'
(R):5'- TTACCAGCTAGGCACATGCTACG -3'

Posted On

2015-04-07