Mutagenetix > Incidental Mutation

Incidental Mutation 'R0638:Fam83h'

56837

Institutional Source

Beutler Lab

Gene Symbol

Fam83h

Ensembl Gene

ENSMUSG00000046761

Gene Name

family with sequence similarity 83, member H

Synonyms

MMRRC Submission

038827-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.390) question?

Stock #

R0638 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76001093-76014336 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 76003927 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 520 (H520Q)

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: H520Q

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000059839
Gene: ENSMUSG00000046761
AA Change: H520Q

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: H520Q

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000126453
Gene: ENSMUSG00000046761
AA Change: H520Q

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

0.0597

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.5%

Validation Efficiency

99% (76/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	C	2: 111,200,418	E382G	probably damaging	Het
4932414N04Rik	C	A	2: 68,717,228	Q161K	probably benign	Het
Aatk	A	T	11: 120,009,922	L1216Q	probably damaging	Het
Aifm3	T	C	16: 17,503,671	F463L	possibly damaging	Het
Antxr2	C	T	5: 97,960,637	W338*	probably null	Het
Apc2	T	C	10: 80,304,967	S219P	probably damaging	Het
Arfgap3	A	T	15: 83,308,188		probably null	Het
Arrdc5	A	G	17: 56,300,020	V75A	possibly damaging	Het
Atg16l2	A	T	7: 101,300,110		probably null	Het
Cacna1i	A	G	15: 80,381,080	N1511S	possibly damaging	Het
Cad	T	C	5: 31,077,688	Y2095H	probably damaging	Het
Chia1	T	C	3: 106,128,437		probably benign	Het
Crybg2	A	G	4: 134,074,454	D975G	probably damaging	Het
Dagla	T	C	19: 10,254,883	I480V	probably damaging	Het
Efl1	C	T	7: 82,651,887	T33I	probably damaging	Het
Esp36	A	G	17: 38,417,169	F74L	probably benign	Het
Faim	T	C	9: 98,992,096		probably benign	Het
Fbn2	A	T	18: 58,045,374	C1931S	probably damaging	Het
Frs3	A	G	17: 47,701,656	D96G	probably benign	Het
Gbp4	A	G	5: 105,121,840	M374T	probably damaging	Het
Gimap1	C	T	6: 48,741,425		probably benign	Het
Gm10010	A	G	6: 128,200,613		noncoding transcript	Het
Gm10355	T	C	3: 101,306,898		noncoding transcript	Het
Gmip	C	T	8: 69,811,445		probably benign	Het
Gpc2	A	T	5: 138,278,534	F110Y	possibly damaging	Het
Ifi44l	C	T	3: 151,762,759	V45M	probably benign	Het
Il15	T	C	8: 82,343,261	E58G	probably damaging	Het
Kat2b	T	C	17: 53,644,743		probably benign	Het
Kcnh7	C	A	2: 62,777,510	V576L	probably benign	Het
Lrrc66	T	A	5: 73,615,473		probably benign	Het
Mical1	A	G	10: 41,482,239	E416G	probably benign	Het
Mroh3	A	G	1: 136,191,002	Y526H	probably damaging	Het
Mtx2	T	C	2: 74,869,290		probably benign	Het
Naip6	A	T	13: 100,300,528	Y496N	probably benign	Het
Nfyc	A	G	4: 120,768,884	S73P	probably benign	Het
Olfr1418	C	T	19: 11,855,123	V277M	probably damaging	Het
Olfr1418	A	C	19: 11,855,368	V195G	probably damaging	Het
Olfr382	T	A	11: 73,516,924	I92F	probably damaging	Het
Olfr810	T	A	10: 129,791,232	D119V	probably damaging	Het
Olfr995	A	G	2: 85,438,501	I219T	probably benign	Het
P2ry14	A	G	3: 59,115,448	V206A	probably benign	Het
Polg	G	A	7: 79,460,148		probably benign	Het
Ptgs1	G	A	2: 36,240,856		probably benign	Het
Pus7l	A	G	15: 94,523,417	S671P	probably benign	Het
Ralgapa2	T	C	2: 146,342,192	T1547A	probably benign	Het
Rif1	T	C	2: 52,111,588	S1685P	probably benign	Het
Rnf213	T	C	11: 119,470,210	Y4452H	probably damaging	Het
Samd7	A	G	3: 30,756,521	D229G	probably benign	Het
Serpina3j	T	C	12: 104,314,819	S84P	possibly damaging	Het
Slc35d1	A	G	4: 103,213,244		probably benign	Het
Sorbs2	A	G	8: 45,796,310	D847G	probably damaging	Het
Sp110	A	C	1: 85,577,329	F434C	probably benign	Het
Steap4	T	C	5: 7,977,030		probably benign	Het
Tg	A	C	15: 66,717,208	T13P	probably damaging	Het
Timeless	T	A	10: 128,244,673	Y474*	probably null	Het
Tmem94	T	C	11: 115,792,060		probably null	Het
Trdmt1	G	A	2: 13,516,648		probably benign	Het
Trim23	T	C	13: 104,201,309	Y522H	probably benign	Het
Ttc13	A	T	8: 124,674,366	S624T	probably damaging	Het
Txnl1	A	G	18: 63,692,064		probably benign	Het
Unkl	T	C	17: 25,208,083		probably benign	Het
Usp54	T	A	14: 20,589,369		probably benign	Het
Vcam1	T	C	3: 116,117,259	K497E	possibly damaging	Het
Vmn1r49	C	A	6: 90,072,666	S118I	possibly damaging	Het
Vmn2r118	T	C	17: 55,608,466	K495E	probably benign	Het
Wrnip1	G	A	13: 32,821,090	C560Y	possibly damaging	Het
Xkr5	T	C	8: 18,933,547	R660G	probably benign	Het
Zfp280c	A	G	X: 48,548,703		probably benign	Het
Zfp707	G	A	15: 75,975,129	A291T	possibly 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
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'- AAGCCTCAGCCTCCATTGGTAGAC -3'
(R):5'- ATGACTTCCGTTTCCAGACCAGCC -3'

Sequencing Primer
(F):5'- AGCCGCTCAGGTAGGAG -3'
(R):5'- TCTATCAGCAGCATTACCAGTGG -3'

Posted On

2013-07-11