Mutagenetix > Incidental Mutation

Incidental Mutation 'R8402:Fam76b'

652238

Institutional Source

Beutler Lab

Gene Symbol

Fam76b

Ensembl Gene

ENSMUSG00000037808

Gene Name

family with sequence similarity 76, member B

Synonyms

2810485I05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.673) question?

Stock #

R8402 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13827716-13854987 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13839676 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 289 (S289P)

Ref Sequence

ENSEMBL: ENSMUSP00000062642 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059579] [ENSMUST00000156680] [ENSMUST00000213416]

AlphaFold

Q80XP8

Predicted Effect

probably damaging
Transcript: ENSMUST00000059579
AA Change: S289P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000062642
Gene: ENSMUSG00000037808
AA Change: S289P

Domain	Start	End	E-Value	Type
Pfam:FAM76	6	328	8.4e-121	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156680

SMART Domains

Protein: ENSMUSP00000115751
Gene: ENSMUSG00000037808

Domain	Start	End	E-Value	Type
low complexity region	148	160	N/A	INTRINSIC
low complexity region	167	191	N/A	INTRINSIC
low complexity region	216	227	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000213416
AA Change: S45P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4922502D21Rik	T	A	6: 129,323,044	D157V	possibly damaging	Het
Adamts12	A	T	15: 11,263,290	K579N	probably damaging	Het
Adcy7	T	C	8: 88,308,735	V89A	probably benign	Het
Anapc1	G	A	2: 128,630,228	S1458L	probably benign	Het
AW551984	T	C	9: 39,597,653	Y325C	probably damaging	Het
Btnl4	T	C	17: 34,469,493	Y437C	probably damaging	Het
Ccdc88a	T	A	11: 29,463,879	S806T	probably damaging	Het
Ddit4l	A	G	3: 137,626,127	T85A	probably damaging	Het
Dmxl1	G	A	18: 49,878,326	W1183*	probably null	Het
Dmxl1	G	C	18: 49,878,327	D1184H	probably benign	Het
Dmxl1	G	T	18: 49,878,342	V1189L	probably benign	Het
Evpl	T	C	11: 116,225,371	D820G	probably benign	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Gabrb2	T	C	11: 42,487,304	W116R	probably damaging	Het
Galnt7	G	A	8: 57,542,919	A355V	probably damaging	Het
Klk1b5	T	G	7: 44,218,538	F45V	probably benign	Het
Nav2	T	C	7: 49,453,437	V661A	probably benign	Het
Nfkbiz	T	C	16: 55,816,387	N517S	probably damaging	Het
Olfr1330	A	G	4: 118,893,519	I145M	probably benign	Het
Olfr975	T	A	9: 39,950,417	Y118F	probably benign	Het
P2rx1	T	C	11: 73,013,889	F368L	probably damaging	Het
Palld	A	T	8: 61,711,406	V417E	probably damaging	Het
Robo1	C	A	16: 73,024,497	A1375E	probably benign	Het
Rps24	G	T	14: 24,490,761		probably benign	Het
Serpind1	A	G	16: 17,337,085	N259D	probably benign	Het
Sh3bp4	C	A	1: 89,145,315	N628K	probably benign	Het
Tada3	A	T	6: 113,374,813	L177Q	probably damaging	Het
Tcam1	T	A	11: 106,286,905	L508Q	probably damaging	Het
Thbs1	T	C	2: 118,115,878	S360P	possibly damaging	Het
Tmem33	T	C	5: 67,267,375		probably benign	Het
Vmn2r3	A	G	3: 64,271,196		probably benign	Het
Vwa3b	A	G	1: 37,165,798	E121G	probably damaging	Het
Zfp607b	T	A	7: 27,702,702	H194Q	probably damaging	Het
Zfp729b	G	A	13: 67,592,577	P523L	probably damaging	Het

Other mutations in Fam76b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Fam76b	APN	9	13836884	missense	possibly damaging	0.76
IGL01346:Fam76b	APN	9	13829750	missense	probably damaging	1.00
IGL02100:Fam76b	APN	9	13844120	intron	probably benign
IGL02194:Fam76b	APN	9	13832978	missense	probably damaging	1.00
IGL02307:Fam76b	APN	9	13844036	missense	probably damaging	0.98
IGL02892:Fam76b	APN	9	13828821	missense	probably null	1.00
R1652:Fam76b	UTSW	9	13835892	missense	probably benign
R1966:Fam76b	UTSW	9	13828066	splice site	probably null
R3080:Fam76b	UTSW	9	13833162	missense	probably benign	0.02
R7082:Fam76b	UTSW	9	13833012	missense	probably damaging	1.00
R8248:Fam76b	UTSW	9	13831102	missense	probably damaging	1.00
R8836:Fam76b	UTSW	9	13844085	missense	probably benign
R9280:Fam76b	UTSW	9	13839716	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- TACAGAAGATGCAGTTGCTACC -3'
(R):5'- AGCACTGAATCAGCTTTCAAGTG -3'

Sequencing Primer
(F):5'- CCAACTACCTCTACTTTCATAACAAG -3'
(R):5'- CTGAATCAGCTTTCAAGTGATTTCC -3'

Posted On

2020-10-20