Mutagenetix > Incidental Mutation

Incidental Mutation 'R5871:Fam76a'

455182

Institutional Source

Beutler Lab

Gene Symbol

Fam76a

Ensembl Gene

ENSMUSG00000028878

Gene Name

family with sequence similarity 76, member A

Synonyms

MMRRC Submission

043234-MU

Accession Numbers

Essential gene?

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

Stock #

R5871 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

132626524-132649869 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 132631321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 208 (D208G)

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: D208G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030696
Gene: ENSMUSG00000028878
AA Change: D208G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000097856
AA Change: D179G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000095468
Gene: ENSMUSG00000028878
AA Change: D179G

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: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	A	T	1: 173,159,640 (GRCm39)	L293Q	probably damaging	Het
Ankrd13d	A	G	19: 4,332,022 (GRCm39)	V92A	possibly damaging	Het
Anxa5	T	A	3: 36,506,398 (GRCm39)	Q218L	possibly damaging	Het
Bend6	T	C	1: 33,902,946 (GRCm39)	M135V	probably damaging	Het
Ccr5	T	C	9: 123,924,558 (GRCm39)	F54L	probably benign	Het
Chrng	T	C	1: 87,134,451 (GRCm39)	V164A	possibly damaging	Het
Clca3a1	T	G	3: 144,460,642 (GRCm39)	S271R	probably damaging	Het
Csmd3	G	A	15: 47,752,112 (GRCm39)	T1282I	probably damaging	Het
Dock10	C	A	1: 80,519,057 (GRCm39)		probably null	Het
Esrrb	A	G	12: 86,552,661 (GRCm39)	Y196C	probably benign	Het
Fancd2	A	G	6: 113,533,243 (GRCm39)	E520G	probably benign	Het
Fgf9	A	T	14: 58,320,656 (GRCm39)		probably null	Het
Gatb	T	A	3: 85,561,083 (GRCm39)	L533*	probably null	Het
Igsf10	G	T	3: 59,237,832 (GRCm39)	A783D	possibly damaging	Het
Ldlrap1	A	G	4: 134,486,240 (GRCm39)	I73T	probably damaging	Het
Lrrc37	T	C	11: 103,507,280 (GRCm39)		probably benign	Het
Msr1	G	A	8: 40,064,693 (GRCm39)	P327L	probably damaging	Het
Myo18a	T	C	11: 77,723,306 (GRCm39)	Y823H	probably damaging	Het
Ncapg	A	G	5: 45,853,039 (GRCm39)	E835G	probably damaging	Het
Nfam1	A	G	15: 82,900,623 (GRCm39)	S120P	probably damaging	Het
Or4k44	A	G	2: 111,367,984 (GRCm39)	S217P	probably damaging	Het
Or56a3	T	C	7: 104,735,511 (GRCm39)	V196A	possibly damaging	Het
Or8b49	T	A	9: 38,505,628 (GRCm39)	I37K	possibly damaging	Het
Or9m2	T	C	2: 87,821,355 (GRCm39)	F300S	possibly damaging	Het
Phtf2	A	G	5: 20,999,399 (GRCm39)	V248A	probably benign	Het
Pik3r3	G	T	4: 116,143,355 (GRCm39)	E283*	probably null	Het
Plcg2	T	A	8: 118,230,956 (GRCm39)	Y13N	probably damaging	Het
Pth2r	C	T	1: 65,427,796 (GRCm39)	P490S	probably damaging	Het
Rnf40	T	A	7: 127,190,757 (GRCm39)	M275K	probably damaging	Het
Rpgrip1l	T	C	8: 91,948,014 (GRCm39)	E1223G	possibly damaging	Het
Sec14l5	T	A	16: 4,986,717 (GRCm39)	N168K	probably benign	Het
Siglecf	T	C	7: 43,005,045 (GRCm39)	V425A	probably benign	Het
Sorbs1	A	G	19: 40,387,027 (GRCm39)	V13A	probably damaging	Het
Svil	T	A	18: 5,103,669 (GRCm39)		probably null	Het
Tbrg1	A	G	9: 37,562,278 (GRCm39)	I300T	probably damaging	Het
Tnni3k	T	A	3: 154,736,007 (GRCm39)	D112V	probably benign	Het
Ubxn1	A	G	19: 8,851,576 (GRCm39)	Q203R	probably benign	Het
Ugt1a7c	A	G	1: 88,023,381 (GRCm39)	D180G	possibly damaging	Het
Usp14	A	G	18: 9,996,234 (GRCm39)	F449L	probably benign	Het
Wwc2	A	G	8: 48,321,458 (GRCm39)	L552P	unknown	Het
Zscan10	A	G	17: 23,826,241 (GRCm39)		probably benign	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
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
R9650:Fam76a	UTSW	4	132,629,387 (GRCm39)	missense	probably damaging	1.00
R9673:Fam76a	UTSW	4	132,628,557 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATGGCAAGTACCCAACAGAG -3'
(R):5'- ATGCAGTTCAAGCCTAGCAG -3'

Sequencing Primer
(F):5'- GTACCCAACAGAGAGTAAGCATC -3'
(R):5'- TTCAAGCCTAGCAGATATGGTGAGTC -3'

Posted On

2017-02-10