Mutagenetix > Incidental Mutation

Incidental Mutation 'R9650:Fam76a'

727022

Institutional Source

Beutler Lab

Gene Symbol

Fam76a

Ensembl Gene

ENSMUSG00000028878

Gene Name

family with sequence similarity 76, member A

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R9650 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

132626524-132649869 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 132629387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 255 (Y255C)

Ref Sequence

ENSEMBL: ENSMUSP00000030696 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030696] [ENSMUST00000097856]

AlphaFold

Q922G2

Predicted Effect

probably damaging
Transcript: ENSMUST00000030696
AA Change: Y255C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030696
Gene: ENSMUSG00000028878
AA Change: Y255C

Domain	Start	End	E-Value	Type
Pfam:FAM76	4	297	2.3e-115	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000097856
AA Change: Y226C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095468
Gene: ENSMUSG00000028878
AA Change: Y226C

Domain	Start	End	E-Value	Type
low complexity region	111	122	N/A	INTRINSIC
coiled coil region	188	271	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,071,446 (GRCm39)	N1469Y	probably benign	Het
Actl10	T	A	2: 154,394,682 (GRCm39)	N211K	probably benign	Het
Adam33	C	T	2: 130,894,989 (GRCm39)	V690M	possibly damaging	Het
Agap2	G	A	10: 126,927,653 (GRCm39)	R1178H	unknown	Het
Ank2	T	A	3: 126,735,829 (GRCm39)	T3352S	unknown	Het
BC005537	T	A	13: 24,986,122 (GRCm39)	D7E	unknown	Het
Bptf	T	C	11: 106,935,412 (GRCm39)	M142V	probably benign	Het
Cox15	A	G	19: 43,735,318 (GRCm39)	Y150H	probably benign	Het
Cpq	A	T	15: 33,497,405 (GRCm39)	I382F	possibly damaging	Het
Cps1	T	C	1: 67,254,636 (GRCm39)	F1275S		Het
Cs	T	A	10: 128,196,856 (GRCm39)	M417K	probably benign	Het
Cyp2b19	G	A	7: 26,466,208 (GRCm39)	R337Q	possibly damaging	Het
Dmgdh	A	T	13: 93,845,333 (GRCm39)	Y442F	probably benign	Het
Dync2h1	A	T	9: 7,174,849 (GRCm39)	D131E	possibly damaging	Het
Epb41l2	A	G	10: 25,369,495 (GRCm39)	I605V	probably benign	Het
Evc	G	A	5: 37,458,162 (GRCm39)	P963L	probably damaging	Het
Evl	C	A	12: 108,641,698 (GRCm39)	T160N	probably benign	Het
Fras1	G	T	5: 96,910,387 (GRCm39)	R3272L	probably damaging	Het
Fry	T	C	5: 150,369,375 (GRCm39)	V2283A	probably damaging	Het
Fzd6	A	G	15: 38,894,941 (GRCm39)	Y369C	probably damaging	Het
Hip1r	T	C	5: 124,135,357 (GRCm39)		probably null	Het
Hps5	A	G	7: 46,425,354 (GRCm39)	S449P	probably damaging	Het
Ighv1-34	G	T	12: 114,814,885 (GRCm39)	D92E	possibly damaging	Het
Iigp1c	T	G	18: 60,379,470 (GRCm39)	V335G	probably damaging	Het
Ino80	C	T	2: 119,277,464 (GRCm39)	R337Q	probably damaging	Het
Itgax	T	C	7: 127,734,935 (GRCm39)	I422T	probably benign	Het
Itk	A	T	11: 46,222,778 (GRCm39)	Y564N	probably damaging	Het
Kcnh5	A	C	12: 75,023,293 (GRCm39)	S592A	probably benign	Het
Klhl40	T	A	9: 121,609,083 (GRCm39)	V416E	possibly damaging	Het
Lhfpl4	T	C	6: 113,171,147 (GRCm39)	E13G	probably benign	Het
Mid1	C	G	X: 168,768,003 (GRCm39)	P384A	probably benign	Het
Muc16	A	T	9: 18,553,762 (GRCm39)	M4177K	unknown	Het
Ngef	T	A	1: 87,415,552 (GRCm39)	T371S	possibly damaging	Het
Nutm2	A	T	13: 50,623,755 (GRCm39)	T151S	probably benign	Het
Or4c109	A	T	2: 88,818,006 (GRCm39)	L180*	probably null	Het
Or51f2	T	C	7: 102,526,987 (GRCm39)	I220T	probably damaging	Het
Pate13	A	C	9: 35,820,799 (GRCm39)	M84L	probably benign	Het
Pcdhga8	T	A	18: 37,860,519 (GRCm39)	I525K	probably benign	Het
Pcx	C	T	19: 4,657,714 (GRCm39)	R394C	probably damaging	Het
Pnmt	A	T	11: 98,278,262 (GRCm39)	D112V	probably damaging	Het
Rnf115	C	T	3: 96,665,337 (GRCm39)	T69I	probably damaging	Het
Rrp7a	A	T	15: 83,004,091 (GRCm39)		probably null	Het
Senp1	A	T	15: 97,946,248 (GRCm39)	M499K	probably damaging	Het
Serpina3f	G	A	12: 104,186,519 (GRCm39)	A362T	possibly damaging	Het
Slc29a3	T	A	10: 60,586,302 (GRCm39)	I55F	possibly damaging	Het
Stab2	ACC	AC	10: 86,692,561 (GRCm39)		probably null	Het
Tln1	G	A	4: 43,545,912 (GRCm39)	T901I	probably damaging	Het
Tmem102	T	C	11: 69,695,869 (GRCm39)	K64R	probably benign	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Tnxb	G	A	17: 34,930,629 (GRCm39)	V2105I	probably damaging	Het
Traf2	A	C	2: 25,410,454 (GRCm39)	C391W	probably damaging	Het
Tubgcp3	A	G	8: 12,705,974 (GRCm39)	S183P	probably benign	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Usp2	C	A	9: 44,000,476 (GRCm39)	N288K	probably damaging	Het
Utrn	T	C	10: 12,613,929 (GRCm39)	T381A	probably benign	Het
Vil1	C	T	1: 74,464,775 (GRCm39)	P474L	probably benign	Het
Wasf2	T	A	4: 132,917,457 (GRCm39)	N185K	unknown	Het
Zfp865	A	G	7: 5,037,683 (GRCm39)	M45V	unknown	Het

Other mutations in Fam76a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB003:Fam76a	UTSW	4	132,629,405 (GRCm39)	missense	probably damaging	1.00
BB013:Fam76a	UTSW	4	132,629,405 (GRCm39)	missense	probably damaging	1.00
R0099:Fam76a	UTSW	4	132,638,098 (GRCm39)	unclassified	probably benign
R0764:Fam76a	UTSW	4	132,638,010 (GRCm39)	missense	probably damaging	1.00
R1567:Fam76a	UTSW	4	132,645,039 (GRCm39)	nonsense	probably null
R1971:Fam76a	UTSW	4	132,631,294 (GRCm39)	missense	probably damaging	1.00
R3907:Fam76a	UTSW	4	132,643,432 (GRCm39)	missense	probably damaging	1.00
R4571:Fam76a	UTSW	4	132,648,208 (GRCm39)	missense	possibly damaging	0.53
R4783:Fam76a	UTSW	4	132,643,501 (GRCm39)	missense	probably damaging	1.00
R4783:Fam76a	UTSW	4	132,629,428 (GRCm39)	splice site	probably null
R4784:Fam76a	UTSW	4	132,643,501 (GRCm39)	missense	probably damaging	1.00
R4784:Fam76a	UTSW	4	132,629,428 (GRCm39)	splice site	probably null
R4785:Fam76a	UTSW	4	132,643,501 (GRCm39)	missense	probably damaging	1.00
R4785:Fam76a	UTSW	4	132,629,428 (GRCm39)	splice site	probably null
R5871:Fam76a	UTSW	4	132,631,321 (GRCm39)	missense	probably damaging	1.00
R7107:Fam76a	UTSW	4	132,631,232 (GRCm39)	missense	possibly damaging	0.65
R7832:Fam76a	UTSW	4	132,629,342 (GRCm39)	missense	probably damaging	0.99
R7926:Fam76a	UTSW	4	132,629,405 (GRCm39)	missense	probably damaging	1.00
R9430:Fam76a	UTSW	4	132,645,055 (GRCm39)	missense	probably damaging	0.98
R9673:Fam76a	UTSW	4	132,628,557 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATCCATTAATTCCAGTTCTTAGGGG -3'
(R):5'- CACTGTGTGGCTTCGATGAAG -3'

Sequencing Primer
(F):5'- TTCCAGTTCTTAGGGGAAAAAGATG -3'
(R):5'- CGATGAAGCGTGCTTGGGC -3'

Posted On

2022-10-06