Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02411:0610040J01Rik'

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292316

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

0610040J01Rik

Ensembl Gene

ENSMUSG00000060512

Gene Name

RIKEN cDNA 0610040J01 gene

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

IGL02411

Quality Score

Status

Chromosome

Chromosomal Location

63812363-63899625 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63898116 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 65 (E65G)

Ref Sequence

ENSEMBL: ENSMUSP00000142539 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081747] [ENSMUST00000196367] [ENSMUST00000196575] [ENSMUST00000199667]

Predicted Effect

probably benign
Transcript: ENSMUST00000081747
AA Change: E65G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000080443
Gene: ENSMUSG00000060512
AA Change: E65G

Domain	Start	End	E-Value	Type
Pfam:DUF4699	9	313	2.5e-123	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196367
AA Change: E65G

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000196575
AA Change: E65G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000199667
AA Change: E65G

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	G	A	7: 46,107,007	R1425C	probably damaging	Het
Adcy3	A	T	12: 4,209,407		probably null	Het
AI661453	T	G	17: 47,467,338		probably benign	Het
Arhgef10	A	T	8: 14,954,819	Y445F	probably benign	Het
Atrx	G	T	X: 105,830,981	S1924R	possibly damaging	Het
Clca1	T	C	3: 145,028,002	T58A	possibly damaging	Het
Clec1b	A	G	6: 129,401,841	Y97C	probably damaging	Het
Cobll1	A	G	2: 65,097,740	S1080P	probably damaging	Het
Crb1	C	A	1: 139,248,475	C529F	probably damaging	Het
Crim1	C	T	17: 78,335,334	R494*	probably null	Het
Cyp3a25	A	T	5: 146,001,447		probably benign	Het
Dntt	T	A	19: 41,052,985		probably null	Het
Gjb1	T	C	X: 101,385,005	C280R	probably damaging	Het
Glp1r	T	A	17: 30,924,511	C174S	probably damaging	Het
Gm5414	A	T	15: 101,627,834	Y119N	probably benign	Het
Gm9631	G	A	11: 121,943,652			Het
Gm9796	G	T	11: 95,697,930		noncoding transcript	Het
Gm9956	T	C	10: 56,745,292	F17L	unknown	Het
Il1rap	A	T	16: 26,710,616	D396V	probably damaging	Het
Impa1	T	C	3: 10,322,958	K135E	possibly damaging	Het
Iqub	G	A	6: 24,449,811	A685V	probably damaging	Het
Jade3	T	C	X: 20,512,824	V512A	probably benign	Het
Kif3a	C	A	11: 53,570,698	P57T	probably damaging	Het
Kndc1	G	T	7: 139,921,913		probably null	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Maged2	G	T	X: 150,809,759	D343E	probably benign	Het
Magi2	T	C	5: 19,678,709	S120P	probably damaging	Het
Nxph3	A	T	11: 95,510,830	*253R	probably null	Het
Oog2	A	T	4: 144,195,048	H194L	probably damaging	Het
Pcbd2	T	G	13: 55,732,951	W7G	probably benign	Het
Pcdhb14	T	G	18: 37,449,770	L643R	possibly damaging	Het
Plch1	G	T	3: 63,697,756		probably null	Het
Poln	G	T	5: 34,113,322	S455*	probably null	Het
Ppp2r1a	T	C	17: 20,951,334		probably benign	Het
Rsu1	T	G	2: 13,077,497		probably benign	Het
Serpina10	A	T	12: 103,616,943	M360K	possibly damaging	Het
Sox30	A	T	11: 45,981,124	K269*	probably null	Het
Thbs1	T	C	2: 118,114,970	V310A	probably benign	Het
Tie1	C	A	4: 118,486,563	E61*	probably null	Het
Tm2d1	G	T	4: 98,380,674	P62Q	probably damaging	Het
Tpp1	G	T	7: 105,749,619	P201Q	probably damaging	Het
Trim13	A	G	14: 61,605,149	E205G	probably damaging	Het

Other mutations in 0610040J01Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01621:0610040J01Rik	APN	5	63898383	missense	possibly damaging	0.79
IGL02229:0610040J01Rik	APN	5	63898353	missense	probably damaging	0.99
IGL02389:0610040J01Rik	APN	5	63896483	missense	probably null	1.00
R0243:0610040J01Rik	UTSW	5	63898463	missense	probably benign	0.10
R0411:0610040J01Rik	UTSW	5	63896491	splice site	probably benign
R1978:0610040J01Rik	UTSW	5	63898537	nonsense	probably null
R2072:0610040J01Rik	UTSW	5	63898737	missense	possibly damaging	0.83
R2202:0610040J01Rik	UTSW	5	63898668	missense	possibly damaging	0.91
R3161:0610040J01Rik	UTSW	5	63896490	splice site	probably benign
R3162:0610040J01Rik	UTSW	5	63896490	splice site	probably benign
R4428:0610040J01Rik	UTSW	5	63898839	unclassified	probably benign
R4429:0610040J01Rik	UTSW	5	63898839	unclassified	probably benign
R4430:0610040J01Rik	UTSW	5	63898839	unclassified	probably benign
R4431:0610040J01Rik	UTSW	5	63898839	unclassified	probably benign
R4464:0610040J01Rik	UTSW	5	63898839	unclassified	probably benign
R4465:0610040J01Rik	UTSW	5	63898839	unclassified	probably benign
R4467:0610040J01Rik	UTSW	5	63898839	unclassified	probably benign
R4491:0610040J01Rik	UTSW	5	63898469	missense	probably damaging	1.00
R5161:0610040J01Rik	UTSW	5	63898001	nonsense	probably null
R6115:0610040J01Rik	UTSW	5	63897974	missense	probably damaging	1.00
R6273:0610040J01Rik	UTSW	5	63898218	missense	probably damaging	1.00
R7445:0610040J01Rik	UTSW	5	63898619	missense	probably damaging	0.99
R7593:0610040J01Rik	UTSW	5	63898431	missense	probably damaging	0.97
R8070:0610040J01Rik	UTSW	5	63898167	missense	probably benign	0.01
R8140:0610040J01Rik	UTSW	5	63898611	missense	possibly damaging	0.83
R8165:0610040J01Rik	UTSW	5	63897946	splice site	probably null
R8557:0610040J01Rik	UTSW	5	63898611	missense	probably benign	0.04

Posted On

2015-04-16