Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02394:Gm20521'

293940

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm20521

Ensembl Gene

ENSMUSG00000092232

Gene Name

predicted gene 20521

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02394

Quality Score

Status

Chromosome

Chromosomal Location

55120898-55135594 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55135499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 175 (Y175N)

Ref Sequence

ENSEMBL: ENSMUSP00000133405 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022808] [ENSMUST00000116476] [ENSMUST00000134077] [ENSMUST00000139985] [ENSMUST00000140691] [ENSMUST00000141446] [ENSMUST00000146271] [ENSMUST00000172557] [ENSMUST00000150975] [ENSMUST00000172695]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000022808
AA Change: Y299N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022808
Gene: ENSMUSG00000022194
AA Change: Y299N

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC
low complexity region	29	45	N/A	INTRINSIC
low complexity region	49	100	N/A	INTRINSIC
coiled coil region	112	147	N/A	INTRINSIC
RRM	169	241	4.19e-17	SMART
low complexity region	283	295	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000116476

SMART Domains

Protein: ENSMUSP00000112177
Gene: ENSMUSG00000022194

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC
low complexity region	29	45	N/A	INTRINSIC
low complexity region	49	100	N/A	INTRINSIC
coiled coil region	112	147	N/A	INTRINSIC
RRM	169	241	4.19e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000134077
AA Change: Y330N

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

SMART Domains

Protein: ENSMUSP00000117229
Gene: ENSMUSG00000092232
AA Change: Y330N

Domain	Start	End	E-Value	Type
BH4	6	32	1.28e-11	SMART
BCL	46	144	1.22e-45	SMART
low complexity region	155	169	N/A	INTRINSIC
RRM	200	272	4.19e-17	SMART
low complexity region	314	326	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139985

SMART Domains

Protein: ENSMUSP00000122432
Gene: ENSMUSG00000022194

Domain	Start	End	E-Value	Type
RRM	45	117	4.19e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000140691

SMART Domains

Protein: ENSMUSP00000115294
Gene: ENSMUSG00000022194

Domain	Start	End	E-Value	Type
coiled coil region	9	51	N/A	INTRINSIC
RRM	73	145	4.19e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000141446

SMART Domains

Protein: ENSMUSP00000123305
Gene: ENSMUSG00000022194

Domain	Start	End	E-Value	Type
RRM	45	117	4.19e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146271

Predicted Effect

probably damaging
Transcript: ENSMUST00000172557
AA Change: Y175N

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

SMART Domains

Protein: ENSMUSP00000133405
Gene: ENSMUSG00000022194
AA Change: Y175N

Domain	Start	End	E-Value	Type
RRM	45	117	4.19e-17	SMART
low complexity region	159	171	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150975

SMART Domains

Protein: ENSMUSP00000133937
Gene: ENSMUSG00000022194

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC
low complexity region	29	45	N/A	INTRINSIC
low complexity region	49	100	N/A	INTRINSIC
coiled coil region	112	147	N/A	INTRINSIC
RRM	169	241	3.23e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172695

SMART Domains

Protein: ENSMUSP00000133579
Gene: ENSMUSG00000022194

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC
low complexity region	30	53	N/A	INTRINSIC
low complexity region	59	73	N/A	INTRINSIC

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
Akt3	G	A	1: 176,886,985 (GRCm39)	T288M	probably damaging	Het
Baat	A	T	4: 49,489,812 (GRCm39)		probably benign	Het
Bclaf3	A	G	X: 158,338,485 (GRCm39)	Y444C	probably damaging	Het
Bcs1l	A	G	1: 74,629,459 (GRCm39)	T166A	probably damaging	Het
Cep135	C	T	5: 76,779,318 (GRCm39)	T776I	probably benign	Het
Clasrp	A	G	7: 19,337,179 (GRCm39)	L12P	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp4f15	A	G	17: 32,911,609 (GRCm39)	I164V	possibly damaging	Het
Eps15	T	A	4: 109,170,162 (GRCm39)	L155M	probably damaging	Het
Fbxl20	G	A	11: 98,004,082 (GRCm39)	R69W	probably damaging	Het
Galnt9	A	G	5: 110,763,365 (GRCm39)	M457V	probably damaging	Het
Gemin2	T	A	12: 59,060,842 (GRCm39)		probably null	Het
Gm3298	T	A	14: 5,018,778 (GRCm38)	C178S	probably benign	Het
Gpr37l1	T	C	1: 135,094,746 (GRCm39)	N166S	probably damaging	Het
Gpr45	A	G	1: 43,069,272 (GRCm39)		probably benign	Het
Gpr75	T	C	11: 30,842,190 (GRCm39)	I365T	possibly damaging	Het
Gsdmc2	T	C	15: 63,707,729 (GRCm39)	R22G	probably damaging	Het
Il23r	T	C	6: 67,443,256 (GRCm39)		probably benign	Het
Itgam	A	T	7: 127,684,114 (GRCm39)	T340S	probably benign	Het
Klk1b24	A	G	7: 43,841,294 (GRCm39)	D209G	possibly damaging	Het
Med13l	A	C	5: 118,886,898 (GRCm39)	T1600P	probably benign	Het
Muc16	G	T	9: 18,409,996 (GRCm39)	H137Q	probably damaging	Het
Nin	T	C	12: 70,090,805 (GRCm39)	E870G	probably damaging	Het
Or12k7	A	G	2: 36,958,497 (GRCm39)	Y60C	probably damaging	Het
Or5b120	A	G	19: 13,480,228 (GRCm39)	N174D	probably damaging	Het
Or6c215	A	T	10: 129,638,182 (GRCm39)	F71I	possibly damaging	Het
Pkhd1	T	C	1: 20,269,710 (GRCm39)	K3278R	possibly damaging	Het
Prlr	A	G	15: 10,328,664 (GRCm39)	N380D	probably benign	Het
Rpgr	A	C	X: 10,032,456 (GRCm39)	S582R	probably benign	Het
Rph3a	T	C	5: 121,084,411 (GRCm39)		probably null	Het
Setd5	A	G	6: 113,087,859 (GRCm39)	H140R	probably benign	Het
Stoml3	C	A	3: 53,405,540 (GRCm39)		probably benign	Het
Teddm1a	A	C	1: 153,767,545 (GRCm39)	D3A	probably benign	Het
Tmem207	A	G	16: 26,335,586 (GRCm39)		probably benign	Het
Triml1	T	A	8: 43,591,629 (GRCm39)	Q243L	possibly damaging	Het
Usp5	G	A	6: 124,799,672 (GRCm39)	T274M	probably damaging	Het
Vav2	A	G	2: 27,187,671 (GRCm39)		probably benign	Het
Wdr5b	A	G	16: 35,862,633 (GRCm39)	N251D	probably damaging	Het
Wnk2	C	A	13: 49,235,375 (GRCm39)		probably null	Het

Other mutations in Gm20521

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Gm20521	APN	14	55,122,079 (GRCm39)	nonsense	probably null
IGL03064:Gm20521	APN	14	55,134,680 (GRCm39)	missense	possibly damaging	0.81

Posted On

2015-04-16