Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03171:Gm17175'

411838

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm17175

Ensembl Gene

ENSMUSG00000091142

Gene Name

predicted gene 17175

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL03171

Quality Score

Status

Chromosome

Chromosomal Location

51806349-51811520 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 51809065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 100 (S100R)

Ref Sequence

ENSEMBL: ENSMUSP00000127078 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096170] [ENSMUST00000162998] [ENSMUST00000172117]

AlphaFold

E9Q528

Predicted Effect

probably benign
Transcript: ENSMUST00000096170

SMART Domains

Protein: ENSMUSP00000093884
Gene: ENSMUSG00000079244

Domain	Start	End	E-Value	Type
Pfam:Takusan	56	144	1.3e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162998

SMART Domains

Protein: ENSMUSP00000125409
Gene: ENSMUSG00000068399

Domain	Start	End	E-Value	Type
Pfam:Takusan	35	115	2.2e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000172117
AA Change: S100R

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

SMART Domains

Protein: ENSMUSP00000127078
Gene: ENSMUSG00000091142
AA Change: S100R

Domain	Start	End	E-Value	Type
Pfam:Takusan	23	103	3.3e-26	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	T	A	6: 83,139,377 (GRCm39)	F434Y	possibly damaging	Het
Adam19	G	T	11: 46,029,681 (GRCm39)	A709S	probably damaging	Het
Adgrf3	A	T	5: 30,401,292 (GRCm39)	L42Q	probably damaging	Het
D430041D05Rik	T	C	2: 104,071,508 (GRCm39)	N1264S	possibly damaging	Het
Dnah9	T	G	11: 65,872,067 (GRCm39)	K2721T	probably benign	Het
Efr3b	C	T	12: 4,018,622 (GRCm39)	A575T	probably benign	Het
Esco1	T	C	18: 10,594,263 (GRCm39)	E341G	probably damaging	Het
Ezh2	G	A	6: 47,517,715 (GRCm39)	R574*	probably null	Het
Fam169a	G	T	13: 97,246,522 (GRCm39)		probably benign	Het
Fry	T	C	5: 150,304,274 (GRCm39)	Y555H	probably damaging	Het
Gm527	T	C	12: 64,967,931 (GRCm39)	Y118H	probably damaging	Het
H2-M10.4	G	T	17: 36,772,142 (GRCm39)	T202N	probably damaging	Het
Ift70a1	C	T	2: 75,810,851 (GRCm39)	A411T	probably benign	Het
Igf1	A	T	10: 87,700,683 (GRCm39)	T36S	probably damaging	Het
Ints8	C	T	4: 11,231,702 (GRCm39)	V428I	probably benign	Het
Itga6	G	A	2: 71,671,673 (GRCm39)		probably null	Het
Jmjd1c	A	G	10: 67,061,277 (GRCm39)	E1210G	possibly damaging	Het
Kdm2a	A	T	19: 4,406,792 (GRCm39)	V134E	probably damaging	Het
Limch1	C	A	5: 67,191,537 (GRCm39)	N947K	possibly damaging	Het
Met	T	C	6: 17,562,272 (GRCm39)		probably benign	Het
Neb	A	G	2: 52,106,376 (GRCm39)		probably benign	Het
Ogg1	A	G	6: 113,310,375 (GRCm39)	I274V	possibly damaging	Het
Ola1	A	T	2: 72,987,197 (GRCm39)	I145K	probably benign	Het
Or2r11	G	A	6: 42,437,464 (GRCm39)	T163I	possibly damaging	Het
Pacrg	A	G	17: 10,795,462 (GRCm39)	V166A	possibly damaging	Het
Pira2	T	A	7: 3,845,604 (GRCm39)	E260V	probably damaging	Het
Prickle3	T	C	X: 7,531,526 (GRCm39)	C277R	probably damaging	Het
Psen1	A	G	12: 83,761,638 (GRCm39)	T147A	probably damaging	Het
Pxk	C	T	14: 8,151,014 (GRCm38)		probably benign	Het
Scn11a	G	A	9: 119,648,913 (GRCm39)	P50L	probably benign	Het
Scn4a	C	A	11: 106,236,418 (GRCm39)	V281L	probably benign	Het
Shcbp1	A	G	8: 4,789,166 (GRCm39)	I551T	probably benign	Het
Snx13	T	A	12: 35,150,539 (GRCm39)	I281N	probably benign	Het
Spata31e4	T	A	13: 50,856,388 (GRCm39)	S675R	probably benign	Het
Spopfm1	C	A	3: 94,173,762 (GRCm39)	H257N	probably benign	Het
Tdo2	T	C	3: 81,874,336 (GRCm39)	K209E	probably benign	Het
Trip6	C	T	5: 137,311,146 (GRCm39)	R190Q	probably benign	Het
Ubqln1	T	A	13: 58,328,672 (GRCm39)	E426D	probably damaging	Het
Zfp607b	C	A	7: 27,393,020 (GRCm39)	N49K	possibly damaging	Het

Other mutations in Gm17175

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Gm17175	APN	14	51,810,526 (GRCm39)	missense	possibly damaging	0.77
IGL01347:Gm17175	APN	14	51,808,307 (GRCm39)	missense	probably damaging	0.99
IGL01553:Gm17175	APN	14	51,808,279 (GRCm39)	missense	probably benign	0.00
IGL02436:Gm17175	APN	14	51,807,108 (GRCm39)	utr 3 prime	probably benign
IGL02485:Gm17175	APN	14	51,807,068 (GRCm39)	utr 3 prime	probably benign
R4120:Gm17175	UTSW	14	51,810,534 (GRCm39)	missense	probably damaging	0.97
R4614:Gm17175	UTSW	14	51,809,042 (GRCm39)	missense	probably benign	0.28
R6496:Gm17175	UTSW	14	51,810,534 (GRCm39)	missense	probably benign	0.05
R6817:Gm17175	UTSW	14	51,810,478 (GRCm39)	missense	possibly damaging	0.91
R7000:Gm17175	UTSW	14	51,811,418 (GRCm39)	start codon destroyed	probably null
R7814:Gm17175	UTSW	14	51,811,492 (GRCm39)	start gained	probably benign
R8074:Gm17175	UTSW	14	51,809,080 (GRCm39)	missense	probably damaging	0.97
R8423:Gm17175	UTSW	14	51,809,070 (GRCm39)	missense	possibly damaging	0.80
R9608:Gm17175	UTSW	14	51,809,099 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02