Mutagenetix > Incidental Mutation

Incidental Mutation 'R0318:Fam83h'

25546

Institutional Source

Beutler Lab

Gene Symbol

Fam83h

Ensembl Gene

ENSMUSG00000046761

Gene Name

family with sequence similarity 83, member H

Synonyms

MMRRC Submission

038528-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.262) question?

Stock #

R0318 (G1)

Quality Score

162

Status

Not validated

Chromosome

Chromosomal Location

76001093-76014336 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76003629 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 620 (S620P)

Ref Sequence

ENSEMBL: ENSMUSP00000126453 (fasta)

Gene Model

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

AlphaFold

Q148V8

Predicted Effect

probably benign
Transcript: ENSMUST00000060807
AA Change: S620P

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000059839
Gene: ENSMUSG00000046761
AA Change: S620P

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: S620P

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000126453
Gene: ENSMUSG00000046761
AA Change: S620P

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

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.4%
20x: 86.5%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 58,028,974	L79Q	probably damaging	Het
Add1	T	C	5: 34,625,340	V130A	probably damaging	Het
Ankrd23	G	T	1: 36,534,072	T73K	probably benign	Het
BC005561	T	C	5: 104,517,753	F47S	probably benign	Het
Blk	A	G	14: 63,374,197	Y430H	probably damaging	Het
C3	C	T	17: 57,224,709	V272M	probably damaging	Het
Cerk	C	T	15: 86,151,565	A254T	possibly damaging	Het
Ces2a	G	A	8: 104,740,824	A494T	probably damaging	Het
Cfap46	T	C	7: 139,654,566	Y258C	probably damaging	Het
Chaf1a	C	T	17: 56,062,227	T486I	possibly damaging	Het
Colec12	A	G	18: 9,848,446	N208S	possibly damaging	Het
Coro7	T	A	16: 4,675,807	H63L	probably benign	Het
Cps1	T	A	1: 67,177,014	W833R	probably damaging	Het
Csmd3	A	T	15: 47,659,153	W2707R	probably damaging	Het
Dbn1	C	T	13: 55,474,916	E585K	probably damaging	Het
Ddx50	A	T	10: 62,642,837	I190K	probably damaging	Het
Dnmt3l	G	A	10: 78,055,055	V264M	probably damaging	Het
Dnpep	A	G	1: 75,316,626	V33A	probably damaging	Het
Fam163a	A	G	1: 156,079,969	C26R	probably damaging	Het
Fcna	A	G	2: 25,625,059	S263P	probably benign	Het
Fnip2	A	T	3: 79,512,378	S165R	probably damaging	Het
Fpr-rs3	T	C	17: 20,624,148	T244A	probably benign	Het
Gpr152	T	C	19: 4,143,542	S361P	possibly damaging	Het
Grm5	A	T	7: 87,602,967	I142L	probably damaging	Het
Gucy2g	A	G	19: 55,237,798	S229P	probably benign	Het
Htr7	C	T	19: 35,969,486	G376D	probably damaging	Het
Irgc1	T	C	7: 24,432,471	D307G	probably benign	Het
Irs1	A	T	1: 82,288,660	S612T	probably benign	Het
Maml2	C	T	9: 13,620,594	T368I	probably damaging	Het
Mapkapk2	A	G	1: 131,097,335	V64A	probably damaging	Het
Marf1	C	T	16: 14,142,534	A549T	probably damaging	Het
Nptx1	C	T	11: 119,542,541	E411K	probably damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Olfr995	C	A	2: 85,438,237	R307M	possibly damaging	Het
Pcgf5	A	T	19: 36,412,190	K22N	possibly damaging	Het
Psmd9	C	A	5: 123,234,649	A65E	possibly damaging	Het
Sh3bp1	A	G	15: 78,911,707	T679A	probably damaging	Het
Sipa1l2	G	A	8: 125,447,697	P1281S	possibly damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc25a24	A	G	3: 109,157,000	M222V	probably benign	Het
Smg9	T	C	7: 24,420,888	F429S	possibly damaging	Het
Snapc1	C	T	12: 73,975,032	R81C	probably damaging	Het
Sorl1	T	A	9: 42,081,954	Y258F	probably damaging	Het
Srp72	C	T	5: 76,984,200	T242I	probably benign	Het
Stc1	A	T	14: 69,038,418	Q220L	probably damaging	Het
Tas2r122	T	C	6: 132,711,832	T33A	possibly damaging	Het
Tbc1d10b	A	G	7: 127,199,034	L645P	probably damaging	Het
Timd4	T	A	11: 46,837,071	H272Q	probably benign	Het
Ttll5	T	G	12: 85,876,594		probably null	Het
Veph1	G	T	3: 66,057,259	S783Y	probably damaging	Het
Vmn1r230	T	C	17: 20,846,816	L89S	possibly damaging	Het
Xcr1	A	G	9: 123,856,154	V165A	possibly damaging	Het
Zfp286	T	C	11: 62,784,962	D58G	probably damaging	Het
Zfyve26	C	T	12: 79,276,281	R897H	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
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
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'- ATGAGTGATGAGCGCAACCTGG -3'
(R):5'- TTCCATGCCAAGCAACCTTGAGAC -3'

Sequencing Primer
(F):5'- AGCGCAACCTGGAGCTG -3'
(R):5'- AGCAACCTTGAGACAAGGC -3'

Posted On

2013-04-16