Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02368:Gm17079'

290807

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm17079

Ensembl Gene

ENSMUSG00000090740

Gene Name

predicted gene 17079

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02368

Quality Score

Status

Chromosome

Chromosomal Location

51928476-51932925 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51930524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 107 (N107S)

Ref Sequence

ENSEMBL: ENSMUSP00000125788 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000167231]

AlphaFold

F7D8Y4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167231
AA Change: N107S

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125788
Gene: ENSMUSG00000090740
AA Change: N107S

Domain	Start	End	E-Value	Type
Pfam:Takusan	57	135	1.3e-24	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930546C10Rik	A	G	18: 69,083,060 (GRCm39)		probably benign	Het
Abca17	C	A	17: 24,506,767 (GRCm39)	V1196L	probably benign	Het
Aldh4a1	G	A	4: 139,375,511 (GRCm39)	W540*	probably null	Het
Antxr2	G	A	5: 98,097,057 (GRCm39)	P352L	probably damaging	Het
Atic	C	T	1: 71,603,724 (GRCm39)		probably benign	Het
Cfhr1	A	G	1: 139,475,551 (GRCm39)		probably benign	Het
Clspn	T	C	4: 126,459,900 (GRCm39)	S207P	probably benign	Het
Depdc1b	A	C	13: 108,500,113 (GRCm39)	T209P	probably benign	Het
Exosc3	A	G	4: 45,319,671 (GRCm39)	I117T	probably damaging	Het
Eya2	T	A	2: 165,605,638 (GRCm39)	D347E	probably damaging	Het
Gm10748	G	T	3: 5,280,061 (GRCm39)		probably benign	Het
Gpr68	A	G	12: 100,845,026 (GRCm39)	F173L	probably damaging	Het
Hgf	G	T	5: 16,769,792 (GRCm39)	V89F	possibly damaging	Het
Igsf10	A	T	3: 59,235,652 (GRCm39)	S1510T	probably benign	Het
Il4	A	T	11: 53,503,463 (GRCm39)	N22K	probably damaging	Het
Izumo2	T	G	7: 44,358,261 (GRCm39)	L32R	probably damaging	Het
Mark2	A	G	19: 7,261,855 (GRCm39)	L359P	probably damaging	Het
Myo15b	A	G	11: 115,767,828 (GRCm39)	K1376R	probably benign	Het
Ncam1	G	A	9: 49,454,383 (GRCm39)	R543*	probably null	Het
Pax2	A	G	19: 44,823,848 (GRCm39)	N347S	possibly damaging	Het
Ppargc1a	A	G	5: 51,631,498 (GRCm39)	L377P	probably benign	Het
Pum3	A	G	19: 27,403,357 (GRCm39)	V48A	probably benign	Het
Rad1	T	C	15: 10,493,337 (GRCm39)	Y255H	probably benign	Het
Rimbp2	C	T	5: 128,865,218 (GRCm39)		probably null	Het
Rpn2	A	G	2: 157,144,328 (GRCm39)	N330S	probably benign	Het
Rptn	A	G	3: 93,304,478 (GRCm39)	S604G	probably benign	Het
Rragc	A	G	4: 123,814,904 (GRCm39)	D200G	probably benign	Het
Slco4a1	T	G	2: 180,114,921 (GRCm39)	F615V	probably damaging	Het
Snx2	T	C	18: 53,322,793 (GRCm39)	S59P	probably benign	Het
Timp4	A	T	6: 115,223,360 (GRCm39)		probably null	Het
Tln2	A	G	9: 67,148,092 (GRCm39)		probably benign	Het
Txnrd1	C	A	10: 82,731,808 (GRCm39)		probably null	Het

Other mutations in Gm17079

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03039:Gm17079	APN	14	51,930,518 (GRCm39)	missense	probably damaging	1.00
IGL03327:Gm17079	APN	14	51,930,420 (GRCm39)	missense	possibly damaging	0.65
IGL03346:Gm17079	APN	14	51,930,420 (GRCm39)	missense	possibly damaging	0.65
R1487:Gm17079	UTSW	14	51,930,542 (GRCm39)	splice site	probably null
R6612:Gm17079	UTSW	14	51,931,833 (GRCm39)	missense	possibly damaging	0.85
R6612:Gm17079	UTSW	14	51,931,832 (GRCm39)	missense	probably damaging	1.00
R7028:Gm17079	UTSW	14	51,930,494 (GRCm39)	missense
R8080:Gm17079	UTSW	14	51,930,480 (GRCm39)	missense
R8288:Gm17079	UTSW	14	51,931,815 (GRCm39)	missense
R8690:Gm17079	UTSW	14	51,932,787 (GRCm39)	missense

Posted On

2015-04-16