Mutagenetix > Incidental Mutation

Incidental Mutation 'R7926:Fam76a'

643320

Institutional Source

Beutler Lab

Gene Symbol

Fam76a

Ensembl Gene

ENSMUSG00000028878

Gene Name

family with sequence similarity 76, member A

Synonyms

MMRRC Submission

045973-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

R7926 (G1)

Quality Score

999

Status

Not validated

Chromosome

Chromosomal Location

132626524-132649869 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132629405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 249 (L249P)

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: L249P

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

SMART Domains

Protein: ENSMUSP00000030696
Gene: ENSMUSG00000028878
AA Change: L249P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000097856
AA Change: L220P

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

SMART Domains

Protein: ENSMUSP00000095468
Gene: ENSMUSG00000028878
AA Change: L220P

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: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
BC016579	C	A	16: 45,449,825 (GRCm39)	D198Y	probably damaging	Het
Cep170	A	G	1: 176,588,979 (GRCm39)	S549P	probably damaging	Het
Cnih3	T	C	1: 181,277,566 (GRCm39)	L96P	probably damaging	Het
Cnn2	T	A	10: 79,829,160 (GRCm39)	L168Q	probably damaging	Het
Cnot1	ACG	A	8: 96,472,275 (GRCm39)		probably null	Het
Cnot10	A	G	9: 114,446,883 (GRCm39)	C398R	probably damaging	Het
Dcaf4	C	A	12: 83,580,703 (GRCm39)	Y212*	probably null	Het
Dmxl2	T	C	9: 54,335,326 (GRCm39)	T665A	probably benign	Het
Dnmt1	C	A	9: 20,818,855 (GRCm39)	A1609S	unknown	Het
Dzip1	T	C	14: 119,120,911 (GRCm39)	D682G	probably benign	Het
Fgf10	T	C	13: 118,925,752 (GRCm39)	M177T	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Hoxa13	CG	CGAG	6: 52,237,619 (GRCm39)		probably null	Het
Itln1	G	A	1: 171,359,261 (GRCm39)	T73I	probably benign	Het
Jkamp	T	C	12: 72,141,590 (GRCm39)	Y197H	probably damaging	Het
Kti12	A	C	4: 108,705,443 (GRCm39)	E119A	probably benign	Het
Kti12	G	T	4: 108,705,444 (GRCm39)	E119D	probably benign	Het
Lcor	T	C	19: 41,571,008 (GRCm39)	F67S	probably benign	Het
Lmf2	G	A	15: 89,236,624 (GRCm39)	P514L	probably damaging	Het
Lmntd2	G	T	7: 140,790,258 (GRCm39)	P610Q	probably damaging	Het
Map3k3	T	C	11: 106,036,548 (GRCm39)	S225P	probably damaging	Het
Mbd5	T	C	2: 49,146,335 (GRCm39)	Y182H	probably damaging	Het
Mki67	A	G	7: 135,298,869 (GRCm39)	V2055A	possibly damaging	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Myh8	C	T	11: 67,169,732 (GRCm39)	P17L	possibly damaging	Het
Myt1l	T	A	12: 29,861,651 (GRCm39)	D144E	unknown	Het
Nfatc1	T	C	18: 80,740,881 (GRCm39)	Y373C	probably damaging	Het
Pacs2	C	T	12: 113,024,372 (GRCm39)	L418F	probably damaging	Het
Paxip1	A	G	5: 27,996,207 (GRCm39)	I24T	unknown	Het
Pdcl	C	T	2: 37,242,249 (GRCm39)	G167E	probably damaging	Het
Pdcl	A	C	2: 37,242,251 (GRCm39)	S166R	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Qsox1	C	T	1: 155,688,533 (GRCm39)	G5S	unknown	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Sass6	T	A	3: 116,422,419 (GRCm39)	S641T	possibly damaging	Het
Six1	T	C	12: 73,090,583 (GRCm39)	N194S	probably benign	Het
Tagap	T	C	17: 8,145,770 (GRCm39)		probably null	Het
Tiparp	T	C	3: 65,460,946 (GRCm39)	V645A	possibly damaging	Het
Tm2d2	T	C	8: 25,510,480 (GRCm39)	V113A	probably damaging	Het
Tmprss6	C	A	15: 78,337,050 (GRCm39)	R352L	probably benign	Het
Tslp	A	G	18: 32,950,246 (GRCm39)	E105G	possibly damaging	Het
Ttc41	A	G	10: 86,611,911 (GRCm39)	E1093G	probably benign	Het
Ush2a	G	A	1: 188,460,797 (GRCm39)	R2686H	probably benign	Het
Usp54	A	T	14: 20,627,036 (GRCm39)	Y541N	probably damaging	Het
Vmn2r125	A	G	4: 156,702,988 (GRCm39)	D122G	probably damaging	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
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'- CCACATCCATTAATTCCAGTTCTTAGG -3'
(R):5'- ACCGTTCAGCAGAGCCTTAG -3'

Sequencing Primer
(F):5'- CTAAAGGGGTCTGTGTCCTCC -3'
(R):5'- CGTTCAGCAGAGCCTTAGGAAAAG -3'

Posted On

2020-08-07