Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02962:9530068E07Rik'

365404

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

9530068E07Rik

Ensembl Gene

ENSMUSG00000036275

Gene Name

RIKEN cDNA 9530068E07 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

IGL02962

Quality Score

Status

Chromosome

Chromosomal Location

52287255-52299550 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52294362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 209 (V209A)

Ref Sequence

ENSEMBL: ENSMUSP00000048441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036952] [ENSMUST00000109057]

AlphaFold

Q8K201

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036952
AA Change: V209A

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048441
Gene: ENSMUSG00000036275
AA Change: V209A

Domain	Start	End	E-Value	Type
signal peptide	1	44	N/A	INTRINSIC
low complexity region	82	116	N/A	INTRINSIC
transmembrane domain	192	211	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109057
AA Change: V201A

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104685
Gene: ENSMUSG00000036275
AA Change: V201A

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
low complexity region	74	108	N/A	INTRINSIC
transmembrane domain	184	203	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122004

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136303

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153855

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
1700017N19Rik	T	A	10: 100,446,455 (GRCm39)		probably null	Het
Abca3	T	A	17: 24,619,383 (GRCm39)	V907E	probably damaging	Het
Acvrl1	T	C	15: 101,033,382 (GRCm39)	Y90H	probably benign	Het
Aff3	T	C	1: 38,574,737 (GRCm39)	D81G	probably damaging	Het
Amn	G	T	12: 111,240,951 (GRCm39)	V152L	probably damaging	Het
Arhgap44	A	G	11: 64,957,987 (GRCm39)		probably benign	Het
Atad5	T	A	11: 79,999,405 (GRCm39)	V895D	possibly damaging	Het
Card9	T	G	2: 26,248,029 (GRCm39)		probably null	Het
Ccer1	T	C	10: 97,529,702 (GRCm39)	S122P	unknown	Het
Ccr2	A	G	9: 123,905,712 (GRCm39)		probably benign	Het
Dsg1a	T	A	18: 20,473,381 (GRCm39)	I818N	possibly damaging	Het
Ear10	G	T	14: 44,160,774 (GRCm39)	L18I	probably damaging	Het
Mertk	A	G	2: 128,619,374 (GRCm39)	Y544C	probably damaging	Het
Miga1	A	T	3: 151,990,978 (GRCm39)		probably benign	Het
Myo18a	T	C	11: 77,669,061 (GRCm39)	V307A	probably damaging	Het
Or5p64	A	T	7: 107,854,910 (GRCm39)	I145N	possibly damaging	Het
Or7a38	T	A	10: 78,752,773 (GRCm39)	L33H	probably damaging	Het
Pou2f3	T	C	9: 43,036,384 (GRCm39)		probably benign	Het
Pramel23	T	A	4: 143,423,910 (GRCm39)	E293V	probably benign	Het
Prickle2	A	C	6: 92,353,403 (GRCm39)	S744A	probably benign	Het
Prkcb	T	A	7: 122,024,270 (GRCm39)		probably null	Het
Prkd2	A	G	7: 16,603,757 (GRCm39)	T813A	probably benign	Het
Prkra	G	A	2: 76,463,891 (GRCm39)	T257M	probably damaging	Het
Rbm18	C	T	2: 36,012,886 (GRCm39)	R102Q	probably damaging	Het
Rbsn	A	G	6: 92,167,307 (GRCm39)	S446P	probably benign	Het
Rpgrip1l	A	T	8: 91,996,990 (GRCm39)	V28D	possibly damaging	Het
Sdccag8	A	T	1: 176,775,928 (GRCm39)	K613I	probably damaging	Het
Serbp1	G	A	6: 67,244,103 (GRCm39)	G8D	probably damaging	Het
Slc6a2	T	A	8: 93,699,390 (GRCm39)	Y139*	probably null	Het
Slc7a2	T	A	8: 41,358,621 (GRCm39)	F321L	probably damaging	Het
Slco1b2	G	A	6: 141,594,279 (GRCm39)	S48N	probably damaging	Het
Ssbp2	G	T	13: 91,790,490 (GRCm39)	V118L	possibly damaging	Het
Sugp1	T	A	8: 70,512,512 (GRCm39)		probably benign	Het
Taar5	C	A	10: 23,846,883 (GRCm39)	R94S	possibly damaging	Het
Tgs1	G	T	4: 3,586,181 (GRCm39)	A353S	probably benign	Het
Trav1	A	G	14: 52,666,099 (GRCm39)	E32G	probably damaging	Het
Trp53bp2	T	C	1: 182,259,160 (GRCm39)	V71A	probably benign	Het
Vmn2r50	T	C	7: 9,784,252 (GRCm39)	Y74C	probably damaging	Het
Wars1	A	T	12: 108,841,706 (GRCm39)	M147K	probably damaging	Het

Other mutations in 9530068E07Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01408:9530068E07Rik	APN	11	52,294,193 (GRCm39)	missense	probably damaging	0.99
IGL02133:9530068E07Rik	APN	11	52,294,337 (GRCm39)	missense	probably damaging	1.00
IGL03116:9530068E07Rik	APN	11	52,294,331 (GRCm39)	missense	probably benign	0.14
R1186:9530068E07Rik	UTSW	11	52,293,905 (GRCm39)	missense	probably benign	0.17
R7357:9530068E07Rik	UTSW	11	52,297,821 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18