Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03197:1700030J22Rik'

412876

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1700030J22Rik

Ensembl Gene

ENSMUSG00000031847

Gene Name

RIKEN cDNA 1700030J22 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

IGL03197

Quality Score

Status

Chromosome

Chromosomal Location

117696333-117705698 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117698541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 189 (W189R)

Ref Sequence

ENSEMBL: ENSMUSP00000148789 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070577] [ENSMUST00000213068]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000070577
AA Change: W189R

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000070601
Gene: ENSMUSG00000031847
AA Change: W189R

Domain	Start	End	E-Value	Type
Pfam:DUF4529	1	409	7.5e-188	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213068
AA Change: W189R

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

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
Abcb7	A	T	X: 103,327,797 (GRCm39)	M704K	possibly damaging	Het
Anp32e	A	G	3: 95,844,364 (GRCm39)	D71G	probably damaging	Het
Asphd1	T	C	7: 126,545,298 (GRCm39)	D353G	probably damaging	Het
Baz2b	T	C	2: 59,731,898 (GRCm39)	K2047E	possibly damaging	Het
Cyp2c39	G	T	19: 39,555,361 (GRCm39)	V394F	probably damaging	Het
Ddx43	G	A	9: 78,325,402 (GRCm39)	M482I	probably benign	Het
Dnah2	A	T	11: 69,350,089 (GRCm39)	V2348E	probably damaging	Het
Fam135a	A	G	1: 24,083,263 (GRCm39)	F304L	probably damaging	Het
Gabra3	A	G	X: 71,583,734 (GRCm39)	I66T	possibly damaging	Het
Irf4	A	T	13: 30,947,503 (GRCm39)		probably benign	Het
Kif11	A	G	19: 37,395,475 (GRCm39)	D578G	probably benign	Het
Lrig1	A	G	6: 94,583,099 (GRCm39)	S1006P	probably benign	Het
Mfsd14a	A	C	3: 116,430,012 (GRCm39)	S307A	probably benign	Het
Mill1	A	G	7: 17,998,590 (GRCm39)	T267A	probably benign	Het
Nfyc	C	A	4: 120,630,958 (GRCm39)	D62Y	probably damaging	Het
Nin	T	C	12: 70,073,584 (GRCm39)	T1190A	probably benign	Het
Nup42	T	C	5: 24,372,463 (GRCm39)	S84P	probably damaging	Het
Ociad1	T	C	5: 73,451,675 (GRCm39)	S15P	probably benign	Het
Or4c104	A	T	2: 88,586,545 (GRCm39)	I158K	probably damaging	Het
Or6c69c	A	T	10: 129,910,548 (GRCm39)	I90F	probably damaging	Het
Or7g25	A	G	9: 19,160,098 (GRCm39)	I199T	probably benign	Het
Pcdhb11	T	A	18: 37,555,477 (GRCm39)	L269*	probably null	Het
Pigo	A	C	4: 43,022,103 (GRCm39)	M352R	possibly damaging	Het
Plch1	T	C	3: 63,660,591 (GRCm39)	M343V	probably damaging	Het
Podnl1	G	A	8: 84,858,818 (GRCm39)	V548I	probably benign	Het
Prkag1	A	G	15: 98,713,058 (GRCm39)		probably benign	Het
Rasa4	A	G	5: 136,130,866 (GRCm39)	K379R	probably damaging	Het
Rraga	G	A	4: 86,494,513 (GRCm39)	A120T	probably damaging	Het
Serpina3a	C	T	12: 104,082,500 (GRCm39)	A91V	probably damaging	Het
Sik2	T	C	9: 50,807,073 (GRCm39)	E779G	probably damaging	Het
Slc15a3	T	G	19: 10,832,443 (GRCm39)		probably null	Het
Smc1b	C	T	15: 84,955,064 (GRCm39)	D1063N	possibly damaging	Het
Speer1e	T	G	5: 11,233,080 (GRCm39)	N14K	probably damaging	Het
Speer1k	T	A	5: 11,000,501 (GRCm39)		probably benign	Het
Srsf12	G	A	4: 33,231,040 (GRCm39)	G183E	probably damaging	Het
Taf8	A	G	17: 47,809,127 (GRCm39)	S112P	probably benign	Het
Trhde	A	G	10: 114,249,213 (GRCm39)	L851P	probably benign	Het
Wapl	G	T	14: 34,467,588 (GRCm39)	V1182F	possibly damaging	Het
Zfp326	A	G	5: 106,039,059 (GRCm39)	I231V	probably benign	Het

Other mutations in 1700030J22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:1700030J22Rik	APN	8	117,700,279 (GRCm39)	missense	probably damaging	0.99
R1372:1700030J22Rik	UTSW	8	117,698,696 (GRCm39)	missense	possibly damaging	0.62
R2170:1700030J22Rik	UTSW	8	117,697,896 (GRCm39)	missense	probably damaging	1.00
R4893:1700030J22Rik	UTSW	8	117,697,904 (GRCm39)	missense	probably damaging	1.00
R5056:1700030J22Rik	UTSW	8	117,698,421 (GRCm39)	nonsense	probably null
R5089:1700030J22Rik	UTSW	8	117,698,672 (GRCm39)	missense	possibly damaging	0.55
R7380:1700030J22Rik	UTSW	8	117,700,376 (GRCm39)	missense	probably benign	0.25
R8935:1700030J22Rik	UTSW	8	117,698,181 (GRCm39)	missense	probably benign	0.05
R9241:1700030J22Rik	UTSW	8	117,697,937 (GRCm39)	missense	probably damaging	1.00
R9310:1700030J22Rik	UTSW	8	117,698,859 (GRCm39)	missense	possibly damaging	0.61
Z1176:1700030J22Rik	UTSW	8	117,700,336 (GRCm39)	missense	probably benign	0.08

Posted On

2016-08-02