Mutagenetix > Incidental Mutation

Incidental Mutation 'R7438:Fam83h'

576774

Institutional Source

Beutler Lab

Gene Symbol

Fam83h

Ensembl Gene

ENSMUSG00000046761

Gene Name

family with sequence similarity 83, member H

Synonyms

MMRRC Submission

045514-MU

Accession Numbers

Essential gene?

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

Stock #

R7438 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75872942-75886185 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75876275 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 354 (F354S)

Ref Sequence

ENSEMBL: ENSMUSP00000059839 (fasta)

Gene Model

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

AlphaFold

Q148V8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060807
AA Change: F354S

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000059839
Gene: ENSMUSG00000046761
AA Change: F354S

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

possibly damaging
Transcript: ENSMUST00000170153
AA Change: F354S

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126453
Gene: ENSMUSG00000046761
AA Change: F354S

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (88/88)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	C	14: 118,853,858 (GRCm39)	S425G	probably benign	Het
Adam29	A	G	8: 56,324,609 (GRCm39)	I615T	probably damaging	Het
Arap2	A	T	5: 62,906,818 (GRCm39)	I67N	probably damaging	Het
Asxl2	C	T	12: 3,477,108 (GRCm39)		probably benign	Het
Atp13a4	C	T	16: 29,260,014 (GRCm39)	G607D		Het
Atp2c2	G	A	8: 120,474,936 (GRCm39)	V514M	probably damaging	Het
Baiap3	A	G	17: 25,468,082 (GRCm39)	C311R	possibly damaging	Het
Becn1	A	C	11: 101,185,052 (GRCm39)	S137R	probably benign	Het
C1qtnf6	G	T	15: 78,409,574 (GRCm39)	T91K	probably benign	Het
C8a	T	C	4: 104,718,626 (GRCm39)	K110E	probably damaging	Het
Camta2	A	G	11: 70,574,714 (GRCm39)		probably null	Het
Capn8	T	A	1: 182,426,240 (GRCm39)	Y192N	probably damaging	Het
Ccdc170	C	T	10: 4,508,512 (GRCm39)	Q579*	probably null	Het
Cenpa	G	T	5: 30,824,292 (GRCm39)		probably benign	Het
Cltc	A	G	11: 86,616,054 (GRCm39)	V404A	probably benign	Het
Cyp3a11	A	T	5: 145,802,710 (GRCm39)	L261Q	probably benign	Het
Daw1	T	A	1: 83,170,436 (GRCm39)	S249R	probably benign	Het
Dchs1	T	A	7: 105,404,155 (GRCm39)	I2796F	probably benign	Het
Dis3l2	T	C	1: 86,673,222 (GRCm39)		probably null	Het
Dnah5	A	T	15: 28,347,098 (GRCm39)	D2527V	probably damaging	Het
Dsg4	G	A	18: 20,599,685 (GRCm39)	R767Q	probably damaging	Het
Edaradd	A	G	13: 12,493,338 (GRCm39)	I118T	probably damaging	Het
Fat3	A	G	9: 15,899,778 (GRCm39)	V3085A	probably benign	Het
Fer	A	G	17: 64,440,516 (GRCm39)	D711G	possibly damaging	Het
G6pc1	G	T	11: 101,267,503 (GRCm39)	V318F	probably benign	Het
Gal3st1	C	A	11: 3,948,227 (GRCm39)	H145N	probably benign	Het
Helz	C	T	11: 107,552,856 (GRCm39)	P1211S	probably damaging	Het
Herc1	A	G	9: 66,302,038 (GRCm39)	I667V	probably benign	Het
Herc2	T	A	7: 55,753,466 (GRCm39)		probably null	Het
Hivep1	C	T	13: 42,308,387 (GRCm39)	T209I	probably damaging	Het
Hsph1	A	G	5: 149,542,485 (GRCm39)	Y678H	probably damaging	Het
Ift122	C	T	6: 115,903,263 (GRCm39)	R1176C	probably benign	Het
Ighv1-23	T	C	12: 114,728,095 (GRCm39)	D109G	probably damaging	Het
Itgb3	T	C	11: 104,534,403 (GRCm39)	V420A	possibly damaging	Het
Kcnk13	C	A	12: 100,027,985 (GRCm39)	N353K	probably damaging	Het
Kif21a	A	G	15: 90,877,999 (GRCm39)	F270L	probably benign	Het
Kit	T	A	5: 75,799,660 (GRCm39)	V464D	probably benign	Het
Klhl36	G	A	8: 120,596,914 (GRCm39)	W205*	probably null	Het
Krt17	A	G	11: 100,149,291 (GRCm39)	Y260H	probably damaging	Het
Lats1	C	T	10: 7,588,706 (GRCm39)	Q1108*	probably null	Het
Lrch1	G	A	14: 74,994,477 (GRCm39)	T709I	possibly damaging	Het
Lrrc58	C	A	16: 37,689,053 (GRCm39)	Q66K	probably benign	Het
Mei1	G	A	15: 81,999,682 (GRCm39)	A664T		Het
Mtmr6	C	T	14: 60,537,753 (GRCm39)	T546M	probably benign	Het
Ncoa3	T	A	2: 165,910,449 (GRCm39)	F1288L	probably damaging	Het
Nwd1	G	T	8: 73,434,458 (GRCm39)	V1352L	probably benign	Het
Or4k77	T	A	2: 111,199,707 (GRCm39)	H243Q	probably damaging	Het
Or5ac17	A	T	16: 59,036,761 (GRCm39)	C72S	probably benign	Het
Ovol3	C	T	7: 29,934,646 (GRCm39)		probably null	Het
Palb2	C	A	7: 121,716,554 (GRCm39)	V843L	probably damaging	Het
Pds5a	T	A	5: 65,809,878 (GRCm39)		probably null	Het
Per1	A	G	11: 68,995,561 (GRCm39)	S714G	possibly damaging	Het
Plch2	G	A	4: 155,084,917 (GRCm39)	R442C	probably damaging	Het
Pon2	A	T	6: 5,289,080 (GRCm39)	S26R	probably benign	Het
Ppp1r9a	A	T	6: 5,115,378 (GRCm39)	N834Y	probably damaging	Het
Pramel22	T	C	4: 143,382,130 (GRCm39)	I189V	probably damaging	Het
Rbm46	C	T	3: 82,749,795 (GRCm39)	W483*	probably null	Het
Rnd1	A	T	15: 98,571,782 (GRCm39)	V88E	probably damaging	Het
Sbno2	T	A	10: 79,905,409 (GRCm39)	T142S	unknown	Het
Scn9a	C	T	2: 66,377,531 (GRCm39)	V384M	possibly damaging	Het
Sertad4	T	A	1: 192,529,018 (GRCm39)	H266L	possibly damaging	Het
Setd5	T	A	6: 113,092,043 (GRCm39)	M288K	possibly damaging	Het
Sfxn4	T	A	19: 60,845,799 (GRCm39)	N66Y	probably damaging	Het
Sinhcaf	A	G	6: 148,834,600 (GRCm39)	Y10H	probably benign	Het
Skint6	T	A	4: 113,095,425 (GRCm39)	N78I	probably damaging	Het
Sltm	G	T	9: 70,480,748 (GRCm39)	G200V	unknown	Het
Smg1	A	G	7: 117,795,116 (GRCm39)	I477T	unknown	Het
Supv3l1	C	T	10: 62,266,249 (GRCm39)		probably null	Het
Syne2	A	G	12: 76,062,337 (GRCm39)	R4220G	probably benign	Het
Tbr1	A	T	2: 61,635,161 (GRCm39)	H37L	possibly damaging	Het
Tet3	TGGCCCAGGCCCAGGC	TGGCCCAGGCCCAGGCCCAGGC	6: 83,345,211 (GRCm39)		probably benign	Het
Tmem231	G	T	8: 112,645,040 (GRCm39)	S155R	probably damaging	Het
Trem3	A	G	17: 48,565,498 (GRCm39)	*184W	probably null	Het
Trim33	T	A	3: 103,253,956 (GRCm39)		probably benign	Het
Tsen2	G	A	6: 115,536,943 (GRCm39)	W233*	probably null	Het
Ttc21a	T	A	9: 119,774,605 (GRCm39)	N286K	probably damaging	Het
Tulp4	A	T	17: 6,248,983 (GRCm39)	M194L	probably benign	Het
Ube3b	C	A	5: 114,553,345 (GRCm39)	R906S	possibly damaging	Het
Ube3b	A	C	5: 114,556,687 (GRCm39)	D1006A	probably damaging	Het
Vipas39	A	T	12: 87,288,705 (GRCm39)		probably null	Het
Wdr35	T	A	12: 9,072,785 (GRCm39)	Y920N	probably damaging	Het
Zan	T	G	5: 137,423,824 (GRCm39)	I2692L	unknown	Het
Zfp142	C	A	1: 74,624,679 (GRCm39)	E48D	probably benign	Het
Zfp598	T	C	17: 24,896,504 (GRCm39)	Y194H	probably damaging	Het
Zfp85	T	C	13: 67,897,064 (GRCm39)	N336S	probably benign	Het
Zfyve27	A	T	19: 42,177,959 (GRCm39)		probably null	Het
Zp3	T	C	5: 136,011,559 (GRCm39)	S126P	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
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
R9320:Fam83h	UTSW	15	75,873,924 (GRCm39)	missense	possibly damaging	0.56
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'- GGAATGTTTGTCGTGACACC -3'
(R):5'- ATGCGCTAGCTCCATACTCTG -3'

Sequencing Primer
(F):5'- GCAAAGTTCTCCACTGCTCCAG -3'
(R):5'- TCCATACTCTGGGGCTGG -3'

Posted On

2019-10-07