Mutagenetix > Incidental Mutation

Incidental Mutation 'R9320:Fam83h'

706121

Institutional Source

Beutler Lab

Gene Symbol

Fam83h

Ensembl Gene

ENSMUSG00000046761

Gene Name

family with sequence similarity 83, member H

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.316) question?

Stock #

R9320 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75872942-75886185 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75873924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1138 (T1138S)

Ref Sequence

ENSEMBL: ENSMUSP00000059839 (fasta)

Gene Model

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

AlphaFold

Q148V8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060807
AA Change: T1138S

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000059839
Gene: ENSMUSG00000046761
AA Change: T1138S

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

possibly damaging
Transcript: ENSMUST00000170153
AA Change: T1138S

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000126453
Gene: ENSMUSG00000046761
AA Change: T1138S

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,139,320 (GRCm39)	Y1451H	probably damaging	Het
Abca7	T	A	10: 79,833,471 (GRCm39)	M8K	possibly damaging	Het
Ablim3	C	A	18: 61,972,805 (GRCm39)	R238L	probably damaging	Het
Adar	T	A	3: 89,658,368 (GRCm39)	Y1141*	probably null	Het
Arid2	T	C	15: 96,269,067 (GRCm39)	I1060T	probably damaging	Het
Armc2	A	T	10: 41,839,774 (GRCm39)	V397D	possibly damaging	Het
Astn2	A	G	4: 66,322,386 (GRCm39)	V71A	unknown	Het
Bcat2	A	G	7: 45,234,542 (GRCm39)	D141G	probably damaging	Het
Bicdl1	C	A	5: 115,862,769 (GRCm39)	R162L	probably damaging	Het
Btbd17	A	G	11: 114,684,910 (GRCm39)	I43T	possibly damaging	Het
C2cd5	A	T	6: 142,977,019 (GRCm39)	C698*	probably null	Het
Calr	T	A	8: 85,572,629 (GRCm39)	K87*	probably null	Het
Cap2	C	T	13: 46,768,818 (GRCm39)	T208I	probably benign	Het
Col14a1	A	T	15: 55,364,780 (GRCm39)	M1630L	probably benign	Het
Copg1	T	G	6: 87,887,072 (GRCm39)	S816A	possibly damaging	Het
Csf2ra	C	A	19: 61,215,280 (GRCm39)	A112S	possibly damaging	Het
Cwc27	T	A	13: 104,933,799 (GRCm39)	H241L	probably benign	Het
Dgki	T	A	6: 36,892,422 (GRCm39)	E852V	probably damaging	Het
Dpp6	T	C	5: 27,868,521 (GRCm39)		probably null	Het
Dynlrb1	T	C	2: 155,089,860 (GRCm39)		probably null	Het
Ehhadh	C	T	16: 21,592,281 (GRCm39)	V141I	probably benign	Het
Esyt3	A	G	9: 99,194,044 (GRCm39)	L865P	probably damaging	Het
Fzd4	T	C	7: 89,056,912 (GRCm39)	W320R	probably damaging	Het
Gimap7	A	T	6: 48,701,260 (GRCm39)	K282M	probably benign	Het
Gnai2	G	A	9: 107,492,913 (GRCm39)	T330I		Het
Gpr107	T	C	2: 31,078,728 (GRCm39)	S388P	possibly damaging	Het
Il1a	T	G	2: 129,142,654 (GRCm39)	M264L	probably benign	Het
Ints10	A	T	8: 69,279,951 (GRCm39)	I693F	probably damaging	Het
Jak3	A	T	8: 72,134,265 (GRCm39)	N456Y	probably benign	Het
Krcc1	A	G	6: 71,261,457 (GRCm39)	E163G	probably benign	Het
Lctl	A	G	9: 64,040,455 (GRCm39)	Y466C	probably damaging	Het
Lrp12	A	T	15: 39,741,357 (GRCm39)	S472T	probably damaging	Het
Lrp1b	A	G	2: 41,335,111 (GRCm39)		probably null	Het
Lrriq1	T	A	10: 103,057,144 (GRCm39)	M219L	probably benign	Het
Mbl2	T	A	19: 30,216,741 (GRCm39)	D184E	probably damaging	Het
Mrgpra9	G	A	7: 46,885,392 (GRCm39)	R92C	probably benign	Het
Mroh4	G	A	15: 74,483,405 (GRCm39)	T644I	probably damaging	Het
Muc5ac	C	T	7: 141,369,255 (GRCm39)	A3114V	probably benign	Het
Myh11	T	A	16: 14,029,152 (GRCm39)	M1197L		Het
Naga	C	T	15: 82,221,084 (GRCm39)	G71S	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nsd3	A	G	8: 26,199,088 (GRCm39)		probably null	Het
Nsun6	T	C	2: 15,047,048 (GRCm39)	T101A	probably benign	Het
Or55b10	T	A	7: 102,144,084 (GRCm39)		probably benign	Het
Pabpc4l	T	A	3: 46,401,326 (GRCm39)	D106V	probably damaging	Het
Pdlim5	G	A	3: 141,953,109 (GRCm39)	P529L	probably damaging	Het
Ralgapa1	A	G	12: 55,755,843 (GRCm39)	L1111P	possibly damaging	Het
Rangap1	T	C	15: 81,606,221 (GRCm39)	D40G	probably benign	Het
Ripor2	T	C	13: 24,915,663 (GRCm39)	F1078L	probably damaging	Het
Ryr3	T	C	2: 112,610,336 (GRCm39)	D2312G	probably damaging	Het
Siglecg	T	A	7: 43,058,853 (GRCm39)	I202N	probably benign	Het
Slco4c1	G	T	1: 96,795,644 (GRCm39)	S138*	probably null	Het
Snx27	T	C	3: 94,431,593 (GRCm39)	Y267C	probably damaging	Het
Sphk2	C	T	7: 45,361,179 (GRCm39)	R275H	probably damaging	Het
Stk36	T	A	1: 74,655,793 (GRCm39)	V432E	possibly damaging	Het
Tecrl	C	T	5: 83,428,422 (GRCm39)	S283N	possibly damaging	Het
Tenm2	T	A	11: 35,914,474 (GRCm39)	E2354D	probably damaging	Het
Tmem59l	A	G	8: 70,937,822 (GRCm39)	V186A	possibly damaging	Het
Try4	T	C	6: 41,282,008 (GRCm39)		probably null	Het
Ubr1	C	A	2: 120,727,000 (GRCm39)	G1248V	probably benign	Het
Umod	C	T	7: 119,065,355 (GRCm39)	G558E	probably damaging	Het
Unc13b	T	C	4: 43,171,044 (GRCm39)	F624S	unknown	Het
Uvssa	T	G	5: 33,547,365 (GRCm39)	D310E	probably benign	Het
Vmn1r222	A	T	13: 23,416,418 (GRCm39)	M265K	probably benign	Het
Vmn1r3	A	G	4: 3,185,284 (GRCm39)	F8L	probably benign	Het
Zfp268	C	G	4: 145,349,156 (GRCm39)	Q198E	possibly damaging	Het
Zfp386	T	A	12: 116,023,517 (GRCm39)	C412S	probably damaging	Het

Other mutations in Fam83h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01340:Fam83h	APN	15	75,875,885 (GRCm39)	missense	probably damaging	0.98
IGL01463:Fam83h	APN	15	75,875,637 (GRCm39)	missense	possibly damaging	0.57
IGL01789:Fam83h	APN	15	75,877,969 (GRCm39)	missense	probably damaging	1.00
IGL02029:Fam83h	APN	15	75,878,287 (GRCm39)	missense	probably damaging	1.00
IGL02157:Fam83h	APN	15	75,876,904 (GRCm39)	missense	probably damaging	1.00
IGL03225:Fam83h	APN	15	75,875,150 (GRCm39)	missense	probably damaging	1.00
PIT4260001:Fam83h	UTSW	15	75,873,746 (GRCm39)	missense	probably damaging	1.00
R0008:Fam83h	UTSW	15	75,875,811 (GRCm39)	missense	probably damaging	1.00
R0071:Fam83h	UTSW	15	75,874,377 (GRCm39)	missense	probably benign
R0318:Fam83h	UTSW	15	75,875,478 (GRCm39)	missense	probably benign	0.04
R0539:Fam83h	UTSW	15	75,875,076 (GRCm39)	missense	possibly damaging	0.88
R0638:Fam83h	UTSW	15	75,875,776 (GRCm39)	missense	probably benign	0.01
R0790:Fam83h	UTSW	15	75,875,241 (GRCm39)	missense	probably benign	0.43
R0883:Fam83h	UTSW	15	75,878,018 (GRCm39)	missense	probably damaging	1.00
R1970:Fam83h	UTSW	15	75,878,419 (GRCm39)	unclassified	probably benign
R2046:Fam83h	UTSW	15	75,874,787 (GRCm39)	missense	probably benign
R2114:Fam83h	UTSW	15	75,874,146 (GRCm39)	missense	probably damaging	1.00
R2115:Fam83h	UTSW	15	75,874,146 (GRCm39)	missense	probably damaging	1.00
R2117:Fam83h	UTSW	15	75,876,582 (GRCm39)	nonsense	probably null
R3702:Fam83h	UTSW	15	75,874,499 (GRCm39)	missense	probably benign
R3842:Fam83h	UTSW	15	75,874,499 (GRCm39)	missense	probably benign
R4729:Fam83h	UTSW	15	75,874,185 (GRCm39)	missense	probably benign
R4791:Fam83h	UTSW	15	75,874,217 (GRCm39)	missense	probably damaging	1.00
R5024:Fam83h	UTSW	15	75,876,991 (GRCm39)	missense	probably damaging	1.00
R5471:Fam83h	UTSW	15	75,874,752 (GRCm39)	missense	probably benign	0.00
R6013:Fam83h	UTSW	15	75,875,849 (GRCm39)	missense	probably damaging	0.99
R6488:Fam83h	UTSW	15	75,873,902 (GRCm39)	missense	possibly damaging	0.67
R6558:Fam83h	UTSW	15	75,876,302 (GRCm39)	missense	probably damaging	1.00
R6618:Fam83h	UTSW	15	75,875,360 (GRCm39)	missense	probably damaging	1.00
R7030:Fam83h	UTSW	15	75,876,588 (GRCm39)	missense	probably benign	0.08
R7148:Fam83h	UTSW	15	75,877,016 (GRCm39)	missense	probably damaging	0.98
R7191:Fam83h	UTSW	15	75,874,886 (GRCm39)	missense	probably damaging	1.00
R7438:Fam83h	UTSW	15	75,876,275 (GRCm39)	missense	possibly damaging	0.93
R7705:Fam83h	UTSW	15	75,875,699 (GRCm39)	missense	probably damaging	0.99
R8194:Fam83h	UTSW	15	75,874,624 (GRCm39)	small deletion	probably benign
R8218:Fam83h	UTSW	15	75,874,886 (GRCm39)	missense	probably damaging	1.00
R8282:Fam83h	UTSW	15	75,874,624 (GRCm39)	small deletion	probably benign
R8293:Fam83h	UTSW	15	75,874,624 (GRCm39)	small deletion	probably benign
R8493:Fam83h	UTSW	15	75,874,502 (GRCm39)	missense	probably benign	0.00
R8910:Fam83h	UTSW	15	75,874,844 (GRCm39)	missense	probably benign	0.01
R9025:Fam83h	UTSW	15	75,874,182 (GRCm39)	missense	probably benign	0.27
R9028:Fam83h	UTSW	15	75,875,738 (GRCm39)	missense	possibly damaging	0.54
R9099:Fam83h	UTSW	15	75,875,135 (GRCm39)	missense	probably damaging	1.00
R9649:Fam83h	UTSW	15	75,877,976 (GRCm39)	missense	probably damaging	1.00
X0010:Fam83h	UTSW	15	75,876,788 (GRCm39)	critical splice donor site	probably null
X0061:Fam83h	UTSW	15	75,875,352 (GRCm39)	missense	probably damaging	1.00
Z1177:Fam83h	UTSW	15	75,878,390 (GRCm39)	missense	probably damaging	1.00
Z1177:Fam83h	UTSW	15	75,874,811 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGCTTTTGAATGTGCCCAG -3'
(R):5'- TTCTGGAGCAAATTAGTGCCC -3'

Sequencing Primer
(F):5'- GGGGACAAATTTGCCCATTTTACTG -3'
(R):5'- CACGGCCAGAAGCACCG -3'

Posted On

2022-03-25