Mutagenetix > Incidental Mutation

Incidental Mutation 'R1413:Fam83g'

159713

Institutional Source

Beutler Lab

Gene Symbol

Fam83g

Ensembl Gene

ENSMUSG00000042377

Gene Name

family with sequence similarity 83, member G

Synonyms

MMRRC Submission

039469-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R1413 (G1)

Quality Score

157

Status

Not validated

Chromosome

Chromosomal Location

61684091-61709951 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61702678 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 346 (N346S)

Ref Sequence

ENSEMBL: ENSMUSP00000090697 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051552] [ENSMUST00000093019] [ENSMUST00000148584] [ENSMUST00000151780]

AlphaFold

Q5SWY7

Predicted Effect

probably benign
Transcript: ENSMUST00000051552

SMART Domains

Protein: ENSMUSP00000054407
Gene: ENSMUSG00000042371

Domain	Start	End	E-Value	Type
Pfam:SSF	50	479	2.4e-139	PFAM
transmembrane domain	513	535	N/A	INTRINSIC
transmembrane domain	576	595	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000093019
AA Change: N346S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000090697
Gene: ENSMUSG00000042377
AA Change: N346S

Domain	Start	End	E-Value	Type
Pfam:DUF1669	15	309	1.8e-120	PFAM
Pfam:PLDc_2	165	304	5.5e-11	PFAM
low complexity region	316	336	N/A	INTRINSIC
low complexity region	468	481	N/A	INTRINSIC
low complexity region	577	585	N/A	INTRINSIC
low complexity region	589	604	N/A	INTRINSIC
low complexity region	721	731	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128196

Predicted Effect

probably benign
Transcript: ENSMUST00000148584

SMART Domains

Protein: ENSMUSP00000114523
Gene: ENSMUSG00000042371

Domain	Start	End	E-Value	Type
Pfam:SSF	50	479	2.4e-139	PFAM
transmembrane domain	513	535	N/A	INTRINSIC
transmembrane domain	576	595	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151780

SMART Domains

Protein: ENSMUSP00000118196
Gene: ENSMUSG00000042371

Domain	Start	End	E-Value	Type
Pfam:SSF	48	185	3.5e-44	PFAM
Pfam:SSF	182	450	5e-79	PFAM
transmembrane domain	484	506	N/A	INTRINSIC
transmembrane domain	547	566	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 91.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mutations at this locus result in curly hair. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,590,496	V1504A	probably damaging	Het
Abcc9	T	C	6: 142,627,519	N1051D	possibly damaging	Het
Actr6	A	T	10: 89,728,157	Y84*	probably null	Het
Adgrl3	T	C	5: 81,693,519	Y816H	probably damaging	Het
Ahcyl2	T	C	6: 29,768,587		probably benign	Het
Amd1	A	T	10: 40,290,408	C157*	probably null	Het
Ank1	G	A	8: 23,119,377	E1362K	probably damaging	Het
Atp10b	A	G	11: 43,230,564	Q1018R	probably benign	Het
Atp1a2	G	A	1: 172,279,344	T803I	probably damaging	Het
Atr	T	G	9: 95,932,442	L2064R	probably damaging	Het
Bmp3	T	A	5: 98,872,405	L229Q	probably damaging	Het
Ccl25	A	G	8: 4,353,892	*54W	probably null	Het
Cdc45	A	T	16: 18,808,741	N111K	possibly damaging	Het
Cfap61	T	A	2: 145,963,443	S154T	probably benign	Het
Cyp2c37	T	A	19: 39,994,098	S127T	probably benign	Het
Cyp4f40	T	A	17: 32,673,939	D309E	probably benign	Het
D6Ertd527e	A	G	6: 87,111,353	D166G	unknown	Het
Dmbt1	T	A	7: 131,050,214	D395E	probably damaging	Het
Dnah5	A	G	15: 28,370,409	S2832G	probably benign	Het
Dync1h1	G	A	12: 110,636,509	E2195K	probably benign	Het
Fah	T	C	7: 84,593,212	D296G	probably damaging	Het
Fgl1	T	A	8: 41,191,601	T289S	possibly damaging	Het
Fmo1	A	C	1: 162,833,862	L284R	probably damaging	Het
Frem3	T	A	8: 80,668,801	M1819K	probably benign	Het
Fsip2	T	A	2: 82,988,418	L4832M	possibly damaging	Het
Fut1	T	C	7: 45,619,428	W269R	probably damaging	Het
Ggnbp2	A	G	11: 84,833,129	Y638H	probably damaging	Het
Gp2	T	A	7: 119,451,630	I293F	probably benign	Het
Gpi1	T	C	7: 34,230,155	N20S	probably benign	Het
Gxylt1	C	T	15: 93,254,392	R222H	probably damaging	Het
Hemgn	T	C	4: 46,396,091	K382E	possibly damaging	Het
Hook3	T	A	8: 26,038,106	E585D	probably damaging	Het
Irf6	G	A	1: 193,169,305	M401I	probably benign	Het
Jmjd1c	A	G	10: 67,249,750	T2259A	probably damaging	Het
Lactb	T	A	9: 66,970,919	R209S	probably damaging	Het
Lonp2	A	G	8: 86,641,584	D342G	probably damaging	Het
Mmachc	T	C	4: 116,705,997	S54G	probably damaging	Het
Mpp7	C	A	18: 7,350,977	W573C	probably damaging	Het
Olfr1133	T	A	2: 87,645,838	Y95F	probably benign	Het
Olfr1415	A	T	1: 92,490,888	I289N	probably damaging	Het
Olfr70	T	A	4: 43,697,011	H54L	possibly damaging	Het
Pappa2	A	T	1: 158,936,554	D462E	probably benign	Het
Pcdh12	A	T	18: 38,283,443	F210I	probably damaging	Het
Ppp1r12c	A	G	7: 4,484,444		probably null	Het
Prkce	T	A	17: 86,496,018	D448E	possibly damaging	Het
Ptprb	C	A	10: 116,339,679	T1193K	probably damaging	Het
Qrfpr	T	A	3: 36,182,660	E197D	possibly damaging	Het
Rusc2	T	A	4: 43,416,568	C625S	probably benign	Het
Shcbp1	T	G	8: 4,741,968		probably null	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Spag5	T	A	11: 78,305,317	C449*	probably null	Het
Stpg3	T	C	2: 25,213,850	D158G	probably damaging	Het
Sycp2	T	C	2: 178,347,797	Y1423C	probably benign	Het
Tiprl	C	T	1: 165,215,790	E256K	possibly damaging	Het
Tmem132c	T	A	5: 127,563,567	V934D	probably damaging	Het
Topors	A	G	4: 40,261,982	V434A	probably benign	Het
Usp11	A	G	X: 20,718,707	Y731C	probably damaging	Het
Vmn2r58	T	A	7: 41,863,963	I419L	probably benign	Het
Wfs1	C	A	5: 36,982,078	R72L	possibly damaging	Het
Zan	T	C	5: 137,427,939	D2525G	unknown	Het
Zfp280c	A	G	X: 48,563,838	V285A	probably benign	Het
Zfp511	T	A	7: 140,037,615	F177I	probably damaging	Het
Zfp964	A	G	8: 69,663,070	M107V	unknown	Het
Zmynd11	A	G	13: 9,710,220	Y122H	probably damaging	Het

Other mutations in Fam83g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02121:Fam83g	APN	11	61684783	missense	probably benign	0.00
IGL02958:Fam83g	APN	11	61707722	missense	probably damaging	1.00
PIT4402001:Fam83g	UTSW	11	61703596	missense	probably damaging	0.99
R0365:Fam83g	UTSW	11	61703109	nonsense	probably null
R0410:Fam83g	UTSW	11	61703392	missense	probably damaging	1.00
R0555:Fam83g	UTSW	11	61707663	missense	probably benign	0.37
R1163:Fam83g	UTSW	11	61703436	missense	probably damaging	1.00
R1474:Fam83g	UTSW	11	61702993	missense	probably damaging	1.00
R1916:Fam83g	UTSW	11	61695168	missense	probably damaging	1.00
R2006:Fam83g	UTSW	11	61702975	missense	possibly damaging	0.94
R2105:Fam83g	UTSW	11	61703458	missense	probably benign	0.01
R2134:Fam83g	UTSW	11	61703684	missense	probably benign	0.00
R2968:Fam83g	UTSW	11	61703478	missense	probably damaging	0.97
R4274:Fam83g	UTSW	11	61701728	missense	probably damaging	1.00
R4753:Fam83g	UTSW	11	61695269	missense	probably damaging	1.00
R5888:Fam83g	UTSW	11	61702594	missense	probably benign	0.38
R6280:Fam83g	UTSW	11	61703182	missense	probably benign	0.00
R7234:Fam83g	UTSW	11	61702516	missense	possibly damaging	0.75
R7257:Fam83g	UTSW	11	61684753	missense	probably damaging	1.00
R7588:Fam83g	UTSW	11	61684696	missense	probably damaging	1.00
R7761:Fam83g	UTSW	11	61684758	missense	possibly damaging	0.90
R9624:Fam83g	UTSW	11	61684502	intron	probably benign
Z1176:Fam83g	UTSW	11	61707470	missense	probably benign	0.08
Z1186:Fam83g	UTSW	11	61703194	missense	probably benign	0.00
Z1187:Fam83g	UTSW	11	61703194	missense	probably benign	0.00
Z1188:Fam83g	UTSW	11	61703194	missense	probably benign	0.00
Z1189:Fam83g	UTSW	11	61703194	missense	probably benign	0.00
Z1190:Fam83g	UTSW	11	61703194	missense	probably benign	0.00
Z1191:Fam83g	UTSW	11	61703194	missense	probably benign	0.00
Z1192:Fam83g	UTSW	11	61703194	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGAGTATGCACTGTTGATGCCCAC -3'
(R):5'- ATATTGGCCCTCTCCAGGTTGAGC -3'

Sequencing Primer
(F):5'- ATTGTAGCTTCACATGGTCAGC -3'
(R):5'- TTGAGCAGCCCTGGGTG -3'

Posted On

2014-03-14