Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03174:Gm17067'

411961

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm17067

Ensembl Gene

ENSMUSG00000091594

Gene Name

predicted gene 17067

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

IGL03174

Quality Score

Status

Chromosome

Chromosomal Location

42354893-42376441 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to A at 42360100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128086 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166837] [ENSMUST00000180131]

AlphaFold

E9Q6S4

Predicted Effect

probably null
Transcript: ENSMUST00000166837

SMART Domains

Protein: ENSMUSP00000128086
Gene: ENSMUSG00000091594

Domain	Start	End	E-Value	Type
KRAB	4	66	4.19e-17	SMART
ZnF_C2H2	131	153	1.28e-3	SMART
ZnF_C2H2	159	181	9.73e-4	SMART
ZnF_C2H2	187	209	1.03e-2	SMART
ZnF_C2H2	215	237	1.28e-3	SMART
ZnF_C2H2	243	265	1.38e-3	SMART
ZnF_C2H2	271	293	1.04e-3	SMART
ZnF_C2H2	299	321	8.47e-4	SMART
ZnF_C2H2	327	349	1.13e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000180131

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	C	5: 8,877,752 (GRCm39)	L703P	probably benign	Het
Abi3bp	A	G	16: 56,435,110 (GRCm39)	K602R	possibly damaging	Het
Ank2	T	C	3: 126,733,744 (GRCm39)	D622G	probably damaging	Het
Bpifb1	T	A	2: 154,054,969 (GRCm39)	L287Q	probably damaging	Het
Brd8	T	C	18: 34,737,962 (GRCm39)	E774G	probably damaging	Het
Cnot1	A	G	8: 96,487,983 (GRCm39)	S558P	probably damaging	Het
Col15a1	T	C	4: 47,282,666 (GRCm39)	I781T	probably damaging	Het
Cyp2j7	T	A	4: 96,083,607 (GRCm39)	R448*	probably null	Het
Dgkb	A	T	12: 38,266,053 (GRCm39)	I511F	possibly damaging	Het
Fam221b	T	C	4: 43,666,542 (GRCm39)	E23G	probably benign	Het
Grin3a	T	A	4: 49,771,107 (GRCm39)	D555V	probably damaging	Het
Hid1	T	C	11: 115,251,215 (GRCm39)	Y107C	probably damaging	Het
Kcnd2	A	G	6: 21,216,515 (GRCm39)	D73G	possibly damaging	Het
Kit	A	G	5: 75,767,773 (GRCm39)	D52G	probably benign	Het
Llgl1	G	T	11: 60,597,036 (GRCm39)	R189L	probably benign	Het
Lrp2	T	A	2: 69,296,609 (GRCm39)	D3315V	probably damaging	Het
Map3k8	A	G	18: 4,349,247 (GRCm39)	S24P	probably damaging	Het
Nckap5	A	G	1: 125,909,383 (GRCm39)	L1616P	probably damaging	Het
Nrcam	A	G	12: 44,622,789 (GRCm39)		probably benign	Het
Or2d2b	A	T	7: 106,705,477 (GRCm39)	M197K	probably benign	Het
Or5b119	A	G	19: 13,457,433 (GRCm39)	M43T	probably benign	Het
Polr1a	G	A	6: 71,954,331 (GRCm39)	R1595H	possibly damaging	Het
Pramel29	C	T	4: 143,935,000 (GRCm39)	S247N	probably benign	Het
Rusc1	T	C	3: 88,999,077 (GRCm39)	D235G	probably damaging	Het
Serpinb6e	A	T	13: 34,020,463 (GRCm39)	I215N	probably damaging	Het
Sfrp4	A	T	13: 19,816,377 (GRCm39)	Q137L	probably benign	Het
Spata31g1	T	C	4: 42,970,975 (GRCm39)	Y67H	probably benign	Het
Vmn2r2	C	T	3: 64,024,544 (GRCm39)	W679*	probably null	Het
Vps8	T	A	16: 21,285,213 (GRCm39)	L398H	probably damaging	Het
Zfp709	A	T	8: 72,642,870 (GRCm39)	T99S	probably benign	Het

Other mutations in Gm17067

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0016:Gm17067	UTSW	7	42,358,046 (GRCm39)	missense	probably benign	0.05
R0445:Gm17067	UTSW	7	42,358,046 (GRCm39)	missense	probably benign	0.00
R3911:Gm17067	UTSW	7	42,360,104 (GRCm39)	missense	possibly damaging	0.51
R4380:Gm17067	UTSW	7	42,357,462 (GRCm39)	missense	probably benign	0.00
R5502:Gm17067	UTSW	7	42,357,843 (GRCm39)	missense	probably damaging	0.97
R5557:Gm17067	UTSW	7	42,357,945 (GRCm39)	missense	probably damaging	1.00
R5602:Gm17067	UTSW	7	42,357,839 (GRCm39)	missense	probably damaging	0.98
R5875:Gm17067	UTSW	7	42,357,470 (GRCm39)	missense	probably benign	0.00
R6016:Gm17067	UTSW	7	42,357,654 (GRCm39)	missense	probably benign	0.24
R6029:Gm17067	UTSW	7	42,357,554 (GRCm39)	missense	probably benign	0.06
R6360:Gm17067	UTSW	7	42,357,906 (GRCm39)	missense	probably benign
R6562:Gm17067	UTSW	7	42,358,153 (GRCm39)	missense	probably damaging	1.00
R6892:Gm17067	UTSW	7	42,360,099 (GRCm39)	critical splice donor site	probably null
R8346:Gm17067	UTSW	7	42,358,073 (GRCm39)	missense	probably damaging	1.00
R8458:Gm17067	UTSW	7	42,358,155 (GRCm39)	missense	probably damaging	0.97
R9169:Gm17067	UTSW	7	42,357,627 (GRCm39)	missense	probably benign	0.02
R9647:Gm17067	UTSW	7	42,357,569 (GRCm39)	missense	probably benign
Z1177:Gm17067	UTSW	7	42,357,722 (GRCm39)	missense	probably benign	0.05

Posted On

2016-08-02