Mutagenetix > Incidental Mutation

Incidental Mutation 'R2117:Fam83h'

231125

Institutional Source

Beutler Lab

Gene Symbol

Fam83h

Ensembl Gene

ENSMUSG00000046761

Gene Name

family with sequence similarity 83, member H

Synonyms

MMRRC Submission

040121-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.304) question?

Stock #

R2117 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76001093-76014336 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 76004733 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 252 (E252*)

Ref Sequence

ENSEMBL: ENSMUSP00000126453 (fasta)

Gene Model

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

AlphaFold

Q148V8

Predicted Effect

probably null
Transcript: ENSMUST00000060807
AA Change: E252*

SMART Domains

Protein: ENSMUSP00000059839
Gene: ENSMUSG00000046761
AA Change: E252*

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 null
Transcript: ENSMUST00000170153
AA Change: E252*

SMART Domains

Protein: ENSMUSP00000126453
Gene: ENSMUSG00000046761
AA Change: E252*

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 95.0%

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,492,537 (GRCm38)	C3357S	probably benign	Het
Ago1	T	A	4: 126,463,857 (GRCm38)		probably null	Het
Akap10	A	T	11: 61,890,303 (GRCm38)	D562E	possibly damaging	Het
Akr1b7	G	A	6: 34,418,994 (GRCm38)	A144T	possibly damaging	Het
Ankle1	A	G	8: 71,407,918 (GRCm38)	T340A	probably benign	Het
Arf5	C	T	6: 28,424,784 (GRCm38)	Q71*	probably null	Het
Arl15	C	T	13: 113,967,660 (GRCm38)	S111F	probably damaging	Het
Asph	G	A	4: 9,517,671 (GRCm38)	Q468*	probably null	Het
Bcam	G	T	7: 19,758,427 (GRCm38)	A581E	possibly damaging	Het
Blvra	G	T	2: 127,086,069 (GRCm38)	E80*	probably null	Het
Casc1	C	T	6: 145,205,241 (GRCm38)		probably null	Het
Ccr6	T	C	17: 8,256,082 (GRCm38)	F40L	possibly damaging	Het
Cfap161	A	T	7: 83,775,976 (GRCm38)	N302K	possibly damaging	Het
Ckmt2	T	A	13: 91,855,845 (GRCm38)	I345F	probably benign	Het
Cpsf6	A	G	10: 117,366,120 (GRCm38)		probably benign	Het
Ctnna1	A	G	18: 35,152,625 (GRCm38)	N8S	possibly damaging	Het
Cyp2d11	A	G	15: 82,391,753 (GRCm38)	L209P	probably damaging	Het
Dab2	T	C	15: 6,435,615 (GRCm38)	V628A	probably damaging	Het
Dcstamp	C	T	15: 39,755,175 (GRCm38)	Q327*	probably null	Het
Defb38	A	T	8: 19,023,467 (GRCm38)	Y63*	probably null	Het
Dlg5	A	T	14: 24,177,758 (GRCm38)	L365*	probably null	Het
Dnmt3l	C	A	10: 78,063,296 (GRCm38)	L110I	probably damaging	Het
Exoc3l2	G	T	7: 19,494,982 (GRCm38)	L108F	possibly damaging	Het
Exoc4	T	A	6: 33,347,825 (GRCm38)	N351K	possibly damaging	Het
Fancm	A	G	12: 65,077,174 (GRCm38)	D202G	probably damaging	Het
Fat1	T	A	8: 45,037,463 (GRCm38)	V3804E	probably benign	Het
Fbxw28	T	C	9: 109,330,917 (GRCm38)	T190A	probably benign	Het
Fer1l4	T	C	2: 156,039,118 (GRCm38)	T843A	probably benign	Het
Fnip1	A	T	11: 54,500,624 (GRCm38)	H461L	probably damaging	Het
Gcn1l1	A	T	5: 115,598,825 (GRCm38)	M1276L	probably benign	Het
Gemin4	A	G	11: 76,211,001 (GRCm38)	V978A	possibly damaging	Het
Gm7247	A	T	14: 51,365,335 (GRCm38)	I43F	probably damaging	Het
Gm853	C	A	4: 130,215,363 (GRCm38)	V295L	possibly damaging	Het
Gm9978	C	T	10: 78,486,897 (GRCm38)		noncoding transcript	Het
Gpr4	T	C	7: 19,223,145 (GRCm38)	S331P	probably damaging	Het
Hspa1a	T	A	17: 34,970,479 (GRCm38)	N483Y	probably damaging	Het
Ift74	A	G	4: 94,627,259 (GRCm38)	T138A	probably benign	Het
Ints14	T	G	9: 64,979,795 (GRCm38)	L336R	probably damaging	Het
Irak1	G	T	X: 74,022,612 (GRCm38)	P197Q	possibly damaging	Het
Kif4	A	G	X: 100,665,717 (GRCm38)	S315G	probably benign	Het
L3mbtl1	T	A	2: 162,960,070 (GRCm38)		probably null	Het
Lamb3	A	G	1: 193,334,181 (GRCm38)	R657G	probably benign	Het
Lrp2	A	C	2: 69,483,385 (GRCm38)	V2334G	probably benign	Het
Lrwd1	T	A	5: 136,130,478 (GRCm38)	Y431F	probably damaging	Het
Map3k21	A	T	8: 125,924,042 (GRCm38)	H261L	probably benign	Het
Meis1	G	T	11: 18,881,679 (GRCm38)	P453Q	probably damaging	Het
Mettl16	G	T	11: 74,802,929 (GRCm38)	M255I	probably benign	Het
Mllt10	A	G	2: 18,162,569 (GRCm38)	N435S	probably benign	Het
Mpp5	T	C	12: 78,809,922 (GRCm38)	F180L	possibly damaging	Het
Mta2	T	C	19: 8,943,516 (GRCm38)	I27T	probably damaging	Het
Nav2	A	G	7: 49,464,580 (GRCm38)	I771V	probably benign	Het
Nisch	A	T	14: 31,177,285 (GRCm38)		probably benign	Het
Npc1	G	A	18: 12,196,556 (GRCm38)	P990L	probably damaging	Het
Nrxn1	A	T	17: 90,704,277 (GRCm38)	I308K	probably damaging	Het
Olfr1378	A	T	11: 50,969,320 (GRCm38)	I101F	probably damaging	Het
Olfr1402	C	A	3: 97,410,449 (GRCm38)	C244F	probably damaging	Het
Olfr183	T	C	16: 59,000,420 (GRCm38)	L245P	possibly damaging	Het
Otogl	T	C	10: 107,858,918 (GRCm38)	D823G	probably benign	Het
P2rx7	A	G	5: 122,681,266 (GRCm38)	T584A	probably benign	Het
Pank1	T	A	19: 34,841,086 (GRCm38)	I18F	probably damaging	Het
Pgap3	A	G	11: 98,391,107 (GRCm38)	L126P	probably damaging	Het
Phka1	C	T	X: 102,610,201 (GRCm38)	R290H	probably damaging	Het
Pkd2	G	A	5: 104,483,176 (GRCm38)	E489K	probably damaging	Het
Prdm16	T	A	4: 154,347,925 (GRCm38)	S296C	probably null	Het
Prex2	T	A	1: 11,186,713 (GRCm38)	N1216K	probably damaging	Het
Prmt7	A	G	8: 106,227,298 (GRCm38)	T124A	probably damaging	Het
Ptpra	G	T	2: 130,539,735 (GRCm38)	R372L	probably damaging	Het
Ptpro	T	A	6: 137,443,594 (GRCm38)	V1007D	probably damaging	Het
Rap2b	G	T	3: 61,365,091 (GRCm38)	G12V	probably damaging	Het
Rapgef5	T	A	12: 117,714,064 (GRCm38)		probably null	Het
Rassf4	A	G	6: 116,645,127 (GRCm38)	F168S	possibly damaging	Het
Rtf1	T	A	2: 119,705,518 (GRCm38)	H184Q	probably benign	Het
Sacs	A	G	14: 61,213,771 (GRCm38)	K4422R	probably benign	Het
Sec11c	A	T	18: 65,800,649 (GRCm38)	T9S	probably benign	Het
Sema3d	C	T	5: 12,563,273 (GRCm38)	T439I	probably benign	Het
Sephs1	A	G	2: 4,899,540 (GRCm38)	N243S	probably benign	Het
Setd2	TTGGGA	T	9: 110,604,144 (GRCm38)		probably null	Het
Setx	A	G	2: 29,130,301 (GRCm38)	D100G	probably benign	Het
Slc22a7	C	A	17: 46,433,972 (GRCm38)	V383L	possibly damaging	Het
Slc25a40	T	C	5: 8,430,417 (GRCm38)	C56R	probably damaging	Het
Stk38l	T	A	6: 146,768,846 (GRCm38)	L229I	probably damaging	Het
Sult2a5	T	C	7: 13,625,434 (GRCm38)	S112P	probably damaging	Het
Syt4	A	G	18: 31,440,467 (GRCm38)	Y332H	probably damaging	Het
Tcof1	T	C	18: 60,832,785 (GRCm38)	E415G	possibly damaging	Het
Tenm2	A	G	11: 36,024,854 (GRCm38)	L1951P	probably damaging	Het
Tlr9	A	G	9: 106,225,337 (GRCm38)	N609S	probably damaging	Het
Tmem120a	A	T	5: 135,736,123 (GRCm38)	S266T	possibly damaging	Het
Tmem132b	A	G	5: 125,622,551 (GRCm38)	E92G	probably damaging	Het
Tmem8	C	T	17: 26,117,884 (GRCm38)	L259F	possibly damaging	Het
Tnfrsf18	T	A	4: 156,028,516 (GRCm38)	V196E	probably damaging	Het
Trpc1	A	T	9: 95,717,584 (GRCm38)	L474H	probably damaging	Het
Trpm6	T	C	19: 18,829,952 (GRCm38)	V1020A	probably damaging	Het
Usp20	T	A	2: 31,016,305 (GRCm38)	C562S	probably damaging	Het
Usp47	T	A	7: 112,067,236 (GRCm38)		probably null	Het
Vgll1	A	C	X: 57,092,430 (GRCm38)	K53T	probably damaging	Het
Vmn1r26	T	C	6: 58,008,350 (GRCm38)	N285D	possibly damaging	Het
Zfp445	T	A	9: 122,853,437 (GRCm38)	K480*	probably null	Het
Zfp786	A	G	6: 47,826,997 (GRCm38)	V37A	probably damaging	Het
Zfp821	A	G	8: 109,721,219 (GRCm38)	E64G	probably damaging	Het
Zfp994	T	A	17: 22,200,981 (GRCm38)	D329V	probably damaging	Het
Zkscan8	T	C	13: 21,520,318 (GRCm38)	S484G	probably damaging	Het

Other mutations in Fam83h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01340:Fam83h	APN	15	76,004,036 (GRCm38)	missense	probably damaging	0.98
IGL01463:Fam83h	APN	15	76,003,788 (GRCm38)	missense	possibly damaging	0.57
IGL01789:Fam83h	APN	15	76,006,120 (GRCm38)	missense	probably damaging	1.00
IGL02029:Fam83h	APN	15	76,006,438 (GRCm38)	missense	probably damaging	1.00
IGL02157:Fam83h	APN	15	76,005,055 (GRCm38)	missense	probably damaging	1.00
IGL03225:Fam83h	APN	15	76,003,301 (GRCm38)	missense	probably damaging	1.00
PIT4260001:Fam83h	UTSW	15	76,001,897 (GRCm38)	missense	probably damaging	1.00
R0008:Fam83h	UTSW	15	76,003,962 (GRCm38)	missense	probably damaging	1.00
R0071:Fam83h	UTSW	15	76,002,528 (GRCm38)	missense	probably benign
R0318:Fam83h	UTSW	15	76,003,629 (GRCm38)	missense	probably benign	0.04
R0539:Fam83h	UTSW	15	76,003,227 (GRCm38)	missense	possibly damaging	0.88
R0638:Fam83h	UTSW	15	76,003,927 (GRCm38)	missense	probably benign	0.01
R0790:Fam83h	UTSW	15	76,003,392 (GRCm38)	missense	probably benign	0.43
R0883:Fam83h	UTSW	15	76,006,169 (GRCm38)	missense	probably damaging	1.00
R1970:Fam83h	UTSW	15	76,006,570 (GRCm38)	unclassified	probably benign
R2046:Fam83h	UTSW	15	76,002,938 (GRCm38)	missense	probably benign
R2114:Fam83h	UTSW	15	76,002,297 (GRCm38)	missense	probably damaging	1.00
R2115:Fam83h	UTSW	15	76,002,297 (GRCm38)	missense	probably damaging	1.00
R3702:Fam83h	UTSW	15	76,002,650 (GRCm38)	missense	probably benign
R3842:Fam83h	UTSW	15	76,002,650 (GRCm38)	missense	probably benign
R4729:Fam83h	UTSW	15	76,002,336 (GRCm38)	missense	probably benign
R4791:Fam83h	UTSW	15	76,002,368 (GRCm38)	missense	probably damaging	1.00
R5024:Fam83h	UTSW	15	76,005,142 (GRCm38)	missense	probably damaging	1.00
R5471:Fam83h	UTSW	15	76,002,903 (GRCm38)	missense	probably benign	0.00
R6013:Fam83h	UTSW	15	76,004,000 (GRCm38)	missense	probably damaging	0.99
R6488:Fam83h	UTSW	15	76,002,053 (GRCm38)	missense	possibly damaging	0.67
R6558:Fam83h	UTSW	15	76,004,453 (GRCm38)	missense	probably damaging	1.00
R6618:Fam83h	UTSW	15	76,003,511 (GRCm38)	missense	probably damaging	1.00
R7030:Fam83h	UTSW	15	76,004,739 (GRCm38)	missense	probably benign	0.08
R7148:Fam83h	UTSW	15	76,005,167 (GRCm38)	missense	probably damaging	0.98
R7191:Fam83h	UTSW	15	76,003,037 (GRCm38)	missense	probably damaging	1.00
R7438:Fam83h	UTSW	15	76,004,426 (GRCm38)	missense	possibly damaging	0.93
R7705:Fam83h	UTSW	15	76,003,850 (GRCm38)	missense	probably damaging	0.99
R8194:Fam83h	UTSW	15	76,002,775 (GRCm38)	small deletion	probably benign
R8218:Fam83h	UTSW	15	76,003,037 (GRCm38)	missense	probably damaging	1.00
R8282:Fam83h	UTSW	15	76,002,775 (GRCm38)	small deletion	probably benign
R8293:Fam83h	UTSW	15	76,002,775 (GRCm38)	small deletion	probably benign
R8493:Fam83h	UTSW	15	76,002,653 (GRCm38)	missense	probably benign	0.00
R8910:Fam83h	UTSW	15	76,002,995 (GRCm38)	missense	probably benign	0.01
R9025:Fam83h	UTSW	15	76,002,333 (GRCm38)	missense	probably benign	0.27
R9028:Fam83h	UTSW	15	76,003,889 (GRCm38)	missense	possibly damaging	0.54
R9099:Fam83h	UTSW	15	76,003,286 (GRCm38)	missense	probably damaging	1.00
R9320:Fam83h	UTSW	15	76,002,075 (GRCm38)	missense	possibly damaging	0.56
R9649:Fam83h	UTSW	15	76,006,127 (GRCm38)	missense	probably damaging	1.00
X0010:Fam83h	UTSW	15	76,004,939 (GRCm38)	critical splice donor site	probably null
X0061:Fam83h	UTSW	15	76,003,503 (GRCm38)	missense	probably damaging	1.00
Z1177:Fam83h	UTSW	15	76,006,541 (GRCm38)	missense	probably damaging	1.00
Z1177:Fam83h	UTSW	15	76,002,962 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAGGAGGTGCGCCCGTTTAG -3'
(R):5'- GCAGTTATAGGTATGCCCAGTG -3'

Sequencing Primer
(F):5'- GAAAAAGGTGTTGGTGCTCC -3'
(R):5'- TATGCCCAGTGGGTTGCC -3'

Posted On

2014-09-18