Mutagenetix > Incidental Mutations

Incidental Mutation 'R3702:Fam83h'

258581

Institutional Source

Beutler Lab

Gene Symbol

Fam83h

Ensembl Gene

ENSMUSG00000046761

Gene Name

family with sequence similarity 83, member H

Synonyms

MMRRC Submission

040695-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.355) question?

Stock #

R3702 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76001093-76014336 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76002650 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 946 (R946K)

Ref Sequence

ENSEMBL: ENSMUSP00000126453 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000060807
AA Change: R946K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000059839
Gene: ENSMUSG00000046761
AA Change: R946K

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

probably benign
Transcript: ENSMUST00000170153
AA Change: R946K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126453
Gene: ENSMUSG00000046761
AA Change: R946K

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

0.0733

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (38/38)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	T	13: 63,015,330	N55I	probably benign	Het
9530053A07Rik	G	A	7: 28,157,778	V2184M	probably damaging	Het
Abca5	C	T	11: 110,288,058		probably null	Het
Cacna1a	T	G	8: 84,617,846	S1846A	probably damaging	Het
Cacna1i	A	T	15: 80,381,071		probably benign	Het
Calhm3	T	A	19: 47,151,748	D302V	possibly damaging	Het
Cluh	A	G	11: 74,665,356	M878V	probably benign	Het
Col24a1	C	T	3: 145,337,860	H603Y	probably benign	Het
Commd1	T	A	11: 22,974,057	L277H	probably damaging	Het
Cpped1	G	T	16: 11,828,440	D135E	probably damaging	Het
Cul5	T	C	9: 53,629,216	K499E	probably damaging	Het
Elfn1	A	G	5: 139,972,359	T373A	probably benign	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716		probably null	Het
Grik4	T	C	9: 42,675,218	K114E	probably damaging	Het
Hivep1	T	C	13: 42,157,727	S1148P	probably benign	Het
Itgb1bp2	T	C	X: 101,451,687		probably benign	Het
Lrp1	C	A	10: 127,595,103	R359L	probably damaging	Het
Lyn	A	G	4: 3,742,455	H28R	probably benign	Het
Mtmr10	T	C	7: 64,337,899	L729P	probably damaging	Het
Myot	T	A	18: 44,354,095		probably null	Het
Obox2	G	T	7: 15,396,957	R38L	probably benign	Het
Olfr787	A	T	10: 129,462,952	Y92F	probably damaging	Het
Pcdha3	A	G	18: 36,947,348	Q381R	probably benign	Het
Pip4k2b	A	G	11: 97,729,548		probably benign	Het
Ppig	T	A	2: 69,733,209	S89T	probably damaging	Het
Prune2	A	G	19: 17,178,871	D47G	probably damaging	Het
Sh2b2	A	G	5: 136,224,233	S362P	probably damaging	Het
Snap91	G	A	9: 86,806,520	T322I	probably damaging	Het
Taf3	G	A	2: 9,952,561	T112I	possibly damaging	Het
Tcea1	T	C	1: 4,894,935	V276A	probably benign	Het
Tex15	T	C	8: 33,574,166	V1208A	probably benign	Het
Tomm40	G	T	7: 19,713,673	T144K	possibly damaging	Het
Zbed5	G	A	5: 129,903,159	D650N	possibly damaging	Het
Zfp326	A	G	5: 105,888,843		probably null	Het
Zfp647	G	A	15: 76,910,910	R517W	probably 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
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
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'- CTCTCATTCTTGGGGCTCAG -3'
(R):5'- CCTTATTCTGAGCCAAAGGGAAAC -3'

Sequencing Primer
(F):5'- TCTTGGGGCTCAGCAGCTG -3'
(R):5'- AGCTTACCCTGAGCGCAAG -3'

Posted On

2015-01-23