Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01309:Gm5965'

73580

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm5965

Ensembl Gene

ENSMUSG00000009047

Gene Name

predicted gene 5965

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

IGL01309

Quality Score

Status

Chromosome

Chromosomal Location

88574745-88575434 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 88575219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 131 (S131A)

Ref Sequence

ENSEMBL: ENSMUSP00000009191 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009191] [ENSMUST00000054223]

AlphaFold

A0A571BEP9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000009191
AA Change: S131A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000009191
Gene: ENSMUSG00000009047
AA Change: S131A

Domain	Start	End	E-Value	Type
Pfam:PMG	1	77	1e-28	PFAM
Pfam:PMG	74	196	2.3e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000054223

SMART Domains

Protein: ENSMUSP00000062370
Gene: ENSMUSG00000048830

Domain	Start	End	E-Value	Type
Pfam:PMG	1	77	1.6e-28	PFAM
Pfam:PMG	74	200	7.5e-51	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	G	16: 16,931,410 (GRCm39)	V275A	possibly damaging	Het
Adamts2	A	G	11: 50,694,528 (GRCm39)	D1105G	probably benign	Het
Adgrb3	T	A	1: 25,151,352 (GRCm39)	M195L	possibly damaging	Het
Adrm1	A	G	2: 179,817,756 (GRCm39)		probably benign	Het
Atg13	T	A	2: 91,509,176 (GRCm39)	I457F	possibly damaging	Het
BC034090	T	C	1: 155,102,130 (GRCm39)	N45D	probably damaging	Het
C3	C	T	17: 57,516,652 (GRCm39)		probably benign	Het
Cacna1a	G	A	8: 85,249,657 (GRCm39)	G221D	probably damaging	Het
Calr	A	G	8: 85,573,335 (GRCm39)		probably null	Het
Chd3	C	T	11: 69,248,557 (GRCm39)	V825I	probably damaging	Het
Chdh	T	G	14: 29,757,761 (GRCm39)		probably benign	Het
Ckap5	T	C	2: 91,400,529 (GRCm39)	V627A	probably damaging	Het
Commd3	A	G	2: 18,677,289 (GRCm39)	E5G	probably benign	Het
Ddi1	T	C	9: 6,265,773 (GRCm39)	R199G	probably damaging	Het
Dennd4c	A	G	4: 86,723,724 (GRCm39)		probably benign	Het
Dok7	G	A	5: 35,236,912 (GRCm39)	G293D	possibly damaging	Het
Epm2aip1	T	C	9: 111,102,596 (GRCm39)	V523A	probably benign	Het
Fam171b	C	T	2: 83,709,791 (GRCm39)	Q488*	probably null	Het
Gabbr1	G	A	17: 37,359,499 (GRCm39)		probably null	Het
Gpcpd1	T	C	2: 132,392,244 (GRCm39)	D235G	probably damaging	Het
Grip1	A	T	10: 119,767,207 (GRCm39)	K111*	probably null	Het
Itih4	G	T	14: 30,613,706 (GRCm39)	D308Y	probably damaging	Het
Kcnj6	A	G	16: 94,633,314 (GRCm39)	Y266H	probably damaging	Het
Lrrc41	T	C	4: 115,953,663 (GRCm39)	L783P	probably damaging	Het
Map4k5	T	C	12: 69,888,737 (GRCm39)	D298G	probably benign	Het
Mapkbp1	T	C	2: 119,849,423 (GRCm39)	F712L	probably damaging	Het
Mcoln2	T	C	3: 145,869,282 (GRCm39)		probably benign	Het
Megf11	T	A	9: 64,588,698 (GRCm39)	S532R	probably benign	Het
Mkx	T	C	18: 6,937,192 (GRCm39)	D284G	probably benign	Het
Mmp16	A	G	4: 18,116,185 (GRCm39)	I596M	probably damaging	Het
Msto1	C	A	3: 88,820,993 (GRCm39)	R34L	probably benign	Het
Mtmr9	A	G	14: 63,764,254 (GRCm39)	L491P	probably damaging	Het
Or4a66	T	G	2: 88,531,310 (GRCm39)	Y121S	probably damaging	Het
Or8b52	T	A	9: 38,576,289 (GRCm39)	I284L	probably benign	Het
Or9s13	T	C	1: 92,548,057 (GRCm39)	M143T	probably damaging	Het
Otor	T	C	2: 142,920,532 (GRCm39)	V38A	possibly damaging	Het
Pcdhb12	G	T	18: 37,569,207 (GRCm39)	D118Y	probably damaging	Het
Prelp	T	C	1: 133,842,545 (GRCm39)	H200R	probably benign	Het
Prmt5	T	C	14: 54,747,334 (GRCm39)	Y481C	probably damaging	Het
Psg23	T	G	7: 18,348,465 (GRCm39)	D114A	probably damaging	Het
Ptger4	A	T	15: 5,272,239 (GRCm39)	Y127N	probably damaging	Het
Rabgap1l	C	A	1: 160,528,368 (GRCm39)	V385L	probably benign	Het
Rergl	T	A	6: 139,470,256 (GRCm39)	K191*	probably null	Het
Sart3	A	G	5: 113,897,311 (GRCm39)	F252S	probably damaging	Het
Sbno1	A	T	5: 124,519,769 (GRCm39)	S1169T	probably benign	Het
Serpinb8	C	T	1: 107,532,448 (GRCm39)	T180M	probably damaging	Het
Sipa1l1	G	A	12: 82,434,470 (GRCm39)	E747K	probably benign	Het
Sptb	T	A	12: 76,634,237 (GRCm39)	D2158V	probably benign	Het
Sycp2	T	G	2: 177,999,904 (GRCm39)	D1024A	probably benign	Het
Tbr1	T	G	2: 61,636,411 (GRCm39)	N262K	possibly damaging	Het
Tnrc6a	A	T	7: 122,770,717 (GRCm39)	I836F	probably benign	Het
Ttn	T	C	2: 76,769,091 (GRCm39)	E2823G	probably damaging	Het
Uqcrc1	T	A	9: 108,778,026 (GRCm39)	L441Q	possibly damaging	Het
Vmn1r180	T	C	7: 23,652,424 (GRCm39)	F196L	probably damaging	Het
Vmn2r111	T	C	17: 22,787,997 (GRCm39)	I451M	possibly damaging	Het
Zcchc7	A	T	4: 44,926,060 (GRCm39)	H353L	probably damaging	Het

Other mutations in Gm5965

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Gm5965	APN	16	88,575,228 (GRCm39)	missense	probably damaging	0.99
R2520:Gm5965	UTSW	16	88,575,414 (GRCm39)	missense	probably null
R5009:Gm5965	UTSW	16	88,575,312 (GRCm39)	missense	probably benign	0.17
R5458:Gm5965	UTSW	16	88,575,395 (GRCm39)	missense	probably benign	0.09

Posted On

2013-10-07