Mutagenetix > Incidental Mutation

Incidental Mutation 'R0099:Fam76a'

33140

Institutional Source

Beutler Lab

Gene Symbol

Fam76a

Ensembl Gene

ENSMUSG00000028878

Gene Name

family with sequence similarity 76, member A

Synonyms

MMRRC Submission

038385-MU

Accession Numbers

Essential gene?

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

Stock #

R0099 (G1)

Quality Score

183

Status

Validated (trace)

Chromosome

Chromosomal Location

132626524-132649869 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 132638098 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121892 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030696] [ENSMUST00000097856] [ENSMUST00000148667]

AlphaFold

Q922G2

Predicted Effect

probably benign
Transcript: ENSMUST00000030696

SMART Domains

Protein: ENSMUSP00000030696
Gene: ENSMUSG00000028878

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

Predicted Effect

probably benign
Transcript: ENSMUST00000097856

SMART Domains

Protein: ENSMUSP00000095468
Gene: ENSMUSG00000028878

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

Predicted Effect

probably benign
Transcript: ENSMUST00000148667

SMART Domains

Protein: ENSMUSP00000121892
Gene: ENSMUSG00000028878

Domain	Start	End	E-Value	Type
internal_repeat_1	38	63	9.63e-5	PROSPERO
internal_repeat_1	68	93	9.63e-5	PROSPERO
low complexity region	94	105	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930018M24Rik	C	T	14: 51,134,179 (GRCm39)		probably benign	Het
Aadacl2fm1	A	C	3: 59,843,856 (GRCm39)	K183N	probably benign	Het
Acad10	A	C	5: 121,759,353 (GRCm39)	D1043E	probably damaging	Het
Adamtsl4	C	T	3: 95,591,449 (GRCm39)	G173R	probably benign	Het
Astn1	G	T	1: 158,329,721 (GRCm39)	S192I	probably damaging	Het
Atg2a	T	A	19: 6,302,819 (GRCm39)	V1010E	probably damaging	Het
Col11a2	A	G	17: 34,268,648 (GRCm39)	E311G	probably damaging	Het
Col4a3	A	C	1: 82,695,714 (GRCm39)	E1638A	probably benign	Het
Cstf2t	A	G	19: 31,061,231 (GRCm39)	R256G	probably benign	Het
Cyp4a12a	T	C	4: 115,183,869 (GRCm39)	L225P	probably damaging	Het
Dnah5	G	A	15: 28,240,080 (GRCm39)	R479H	probably damaging	Het
Dsg3	A	G	18: 20,673,079 (GRCm39)	I917V	probably benign	Het
Fras1	T	A	5: 96,762,776 (GRCm39)		probably null	Het
Gli1	A	G	10: 127,171,875 (GRCm39)	V293A	probably damaging	Het
Gm10782	T	A	13: 56,510,956 (GRCm39)		noncoding transcript	Het
Greb1l	A	G	18: 10,509,158 (GRCm39)	E490G	probably damaging	Het
Hydin	G	A	8: 111,316,193 (GRCm39)	G4362R	probably damaging	Het
Ica1	A	T	6: 8,749,778 (GRCm39)		probably benign	Het
Ikzf4	T	A	10: 128,470,066 (GRCm39)	I485F	probably damaging	Het
Irf5	A	G	6: 29,533,966 (GRCm39)	T34A	probably damaging	Het
Krt81	A	T	15: 101,361,402 (GRCm39)	C59*	probably null	Het
Kynu	T	A	2: 43,519,065 (GRCm39)		probably null	Het
Ly6g6c	T	C	17: 35,287,891 (GRCm39)	V61A	probably damaging	Het
Manea	A	C	4: 26,328,104 (GRCm39)	I312M	probably damaging	Het
Micall1	G	T	15: 79,016,101 (GRCm39)		probably benign	Het
Mthfs	A	T	9: 89,108,216 (GRCm39)		probably benign	Het
Myh4	A	G	11: 67,150,173 (GRCm39)	T1877A	probably benign	Het
Myo3a	T	C	2: 22,250,409 (GRCm39)	I92T	probably benign	Het
Nepn	A	G	10: 52,277,181 (GRCm39)	S306G	probably damaging	Het
Nol8	T	C	13: 49,826,165 (GRCm39)	V995A	probably benign	Het
Or5b101	A	G	19: 13,005,165 (GRCm39)	F176S	probably damaging	Het
Or5b105	T	A	19: 13,080,504 (GRCm39)	T49S	probably benign	Het
Or8a1b	A	T	9: 37,622,750 (GRCm39)	V275E	probably damaging	Het
Or8g4	A	G	9: 39,661,957 (GRCm39)	I92V	possibly damaging	Het
Pde1a	T	A	2: 79,698,657 (GRCm39)		probably null	Het
Phf14	A	G	6: 11,987,696 (GRCm39)		probably benign	Het
Plekhh2	C	T	17: 84,899,100 (GRCm39)	Q1026*	probably null	Het
Polr2b	T	A	5: 77,468,797 (GRCm39)		probably benign	Het
Ppp1r36	G	T	12: 76,483,056 (GRCm39)		probably null	Het
Prdm14	A	T	1: 13,189,169 (GRCm39)	C392S	probably damaging	Het
Rabgap1l	A	G	1: 160,509,686 (GRCm39)	S436P	possibly damaging	Het
Rfc2	A	T	5: 134,624,135 (GRCm39)		probably null	Het
Rfx4	A	T	10: 84,730,168 (GRCm39)	M437L	probably benign	Het
Rgs17	T	A	10: 5,792,583 (GRCm39)	R74S	probably benign	Het
Rnf139	C	A	15: 58,771,264 (GRCm39)	L430I	probably damaging	Het
Sgsm1	C	A	5: 113,422,226 (GRCm39)		probably benign	Het
Skint6	T	A	4: 112,668,698 (GRCm39)	T1126S	possibly damaging	Het
Slc15a2	T	C	16: 36,573,398 (GRCm39)	E602G	probably damaging	Het
Stpg2	T	C	3: 138,948,954 (GRCm39)		probably benign	Het
Sycp2l	T	C	13: 41,283,001 (GRCm39)		probably benign	Het
Tlr11	A	T	14: 50,598,275 (GRCm39)	N87I	probably benign	Het
Tril	A	G	6: 53,795,348 (GRCm39)	F625L	probably damaging	Het
Ube3c	T	A	5: 29,812,062 (GRCm39)	V434E	probably damaging	Het
Usp34	G	A	11: 23,313,111 (GRCm39)	G533R	probably damaging	Het
Utp25	A	G	1: 192,810,778 (GRCm39)	L75P	probably damaging	Het
Zfp93	G	T	7: 23,974,900 (GRCm39)	R295L	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
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
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'- GAGGTTCACGCTCAGTGTAGTCAAG -3'
(R):5'- TGCTGGAGATCAATGGTAGCTCAGG -3'

Sequencing Primer
(F):5'- ACGCTCAGTGTAGTCAAGTTCTG -3'
(R):5'- AATCAGGATGGTTTTGACCCC -3'

Posted On

2013-05-09