Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02650:4932414N04Rik'

302108

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4932414N04Rik

Ensembl Gene

ENSMUSG00000079324

Gene Name

RIKEN cDNA 4932414N04 gene

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02650

Quality Score

Status

Chromosome

Chromosomal Location

68487135-68578876 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68571881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 586 (T586A)

Ref Sequence

ENSEMBL: ENSMUSP00000135792 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055930] [ENSMUST00000128259]

AlphaFold

Q8CEQ9

Predicted Effect

probably benign
Transcript: ENSMUST00000055930
AA Change: T586A

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

SMART Domains

Protein: ENSMUSP00000059809
Gene: ENSMUSG00000079324
AA Change: T586A

Domain	Start	End	E-Value	Type
coiled coil region	154	241	N/A	INTRINSIC
Pfam:DUF3496	265	361	8.5e-12	PFAM
internal_repeat_1	456	597	1.76e-26	PROSPERO
internal_repeat_1	601	737	1.76e-26	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000128259
AA Change: T586A

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

SMART Domains

Protein: ENSMUSP00000135792
Gene: ENSMUSG00000079324
AA Change: T586A

Domain	Start	End	E-Value	Type
internal_repeat_1	5	39	6.02e-5	PROSPERO
internal_repeat_1	209	242	6.02e-5	PROSPERO
low complexity region	286	297	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acads	G	T	5: 115,250,874 (GRCm39)	T141N	probably benign	Het
Ankmy1	C	T	1: 92,808,745 (GRCm39)	R721H	probably damaging	Het
Appl1	A	G	14: 26,672,665 (GRCm39)	V236A	possibly damaging	Het
Arhgef5	C	T	6: 43,249,869 (GRCm39)	Q207*	probably null	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Atp6v0a2	G	T	5: 124,789,426 (GRCm39)		probably benign	Het
Cenpf	T	C	1: 189,384,670 (GRCm39)	K2537E	possibly damaging	Het
Cox7a1	A	T	7: 29,884,562 (GRCm39)	E32V	possibly damaging	Het
Dis3	A	T	14: 99,336,221 (GRCm39)	M95K	probably benign	Het
Dnah5	A	T	15: 28,289,193 (GRCm39)		probably benign	Het
Dock10	T	A	1: 80,551,840 (GRCm39)	Y665F	probably damaging	Het
Dynlt5	C	A	4: 102,845,803 (GRCm39)	Q12K	probably benign	Het
Ghsr	A	T	3: 27,429,004 (GRCm39)	Q343L	probably benign	Het
Gm3252	T	A	14: 4,746,353 (GRCm38)	V215E	probably damaging	Het
Gm9979	A	G	13: 40,859,225 (GRCm39)		noncoding transcript	Het
Grik2	A	T	10: 48,977,331 (GRCm39)	M867K	probably benign	Het
Grm7	A	G	6: 111,335,919 (GRCm39)	T777A	probably damaging	Het
Hc	T	A	2: 34,890,886 (GRCm39)	Q1310L	possibly damaging	Het
Ifi44	A	G	3: 151,451,492 (GRCm39)	F205L	probably damaging	Het
Igkv4-86	T	C	6: 68,887,617 (GRCm39)	I40V	probably benign	Het
Jag1	T	C	2: 136,957,505 (GRCm39)	D69G	possibly damaging	Het
Lrch1	T	C	14: 75,051,138 (GRCm39)	D333G	probably damaging	Het
Mapre3	T	A	5: 31,022,053 (GRCm39)	I187N	probably damaging	Het
Myo15b	T	C	11: 115,777,337 (GRCm39)		probably null	Het
Nanos2	C	T	7: 18,721,794 (GRCm39)	P89S	probably damaging	Het
Or4c109	T	A	2: 88,818,424 (GRCm39)	M41L	probably benign	Het
Parp16	G	A	9: 65,141,098 (GRCm39)	V223I	probably damaging	Het
Rnf123	A	G	9: 107,946,947 (GRCm39)	M231T	probably benign	Het
Suco	C	A	1: 161,676,322 (GRCm39)		probably benign	Het
Synj1	G	T	16: 90,773,584 (GRCm39)	T459N	probably benign	Het
Taf4b	C	T	18: 14,975,040 (GRCm39)	Q732*	probably null	Het
Tas2r102	A	G	6: 132,739,173 (GRCm39)	N27S	probably null	Het
Tll1	C	T	8: 64,500,031 (GRCm39)		probably benign	Het
Vmn1r168	A	G	7: 23,240,916 (GRCm39)	I258V	probably benign	Het
Vmn2r71	T	A	7: 85,273,535 (GRCm39)	M783K	probably damaging	Het
Vmn2r98	G	A	17: 19,301,223 (GRCm39)	V742I	probably benign	Het

Other mutations in 4932414N04Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:4932414N04Rik	APN	2	68,563,219 (GRCm39)	missense	probably benign	0.02
IGL01384:4932414N04Rik	APN	2	68,575,749 (GRCm39)	missense	possibly damaging	0.53
IGL02170:4932414N04Rik	APN	2	68,561,467 (GRCm39)	missense	probably benign	0.02
IGL02707:4932414N04Rik	APN	2	68,561,474 (GRCm39)	missense	possibly damaging	0.71
IGL02737:4932414N04Rik	APN	2	68,566,904 (GRCm39)	missense	possibly damaging	0.53
IGL03351:4932414N04Rik	APN	2	68,561,427 (GRCm39)	missense	probably benign
R0328:4932414N04Rik	UTSW	2	68,574,624 (GRCm39)	missense	possibly damaging	0.53
R0362:4932414N04Rik	UTSW	2	68,563,261 (GRCm39)	missense	probably benign	0.00
R0638:4932414N04Rik	UTSW	2	68,547,572 (GRCm39)	missense	probably benign	0.18
R1201:4932414N04Rik	UTSW	2	68,546,626 (GRCm39)	missense	possibly damaging	0.53
R1381:4932414N04Rik	UTSW	2	68,561,430 (GRCm39)	missense	probably benign	0.18
R1456:4932414N04Rik	UTSW	2	68,546,558 (GRCm39)	missense	possibly damaging	0.86
R2001:4932414N04Rik	UTSW	2	68,571,800 (GRCm39)	missense	probably benign
R2051:4932414N04Rik	UTSW	2	68,541,392 (GRCm39)	missense	possibly damaging	0.72
R2228:4932414N04Rik	UTSW	2	68,559,935 (GRCm39)	missense	probably benign	0.00
R2292:4932414N04Rik	UTSW	2	68,562,483 (GRCm39)	missense	probably benign	0.00
R2357:4932414N04Rik	UTSW	2	68,569,844 (GRCm39)	missense	possibly damaging	0.86
R2484:4932414N04Rik	UTSW	2	68,541,819 (GRCm39)	missense	possibly damaging	0.85
R3035:4932414N04Rik	UTSW	2	68,575,762 (GRCm39)	missense	probably benign	0.00
R3916:4932414N04Rik	UTSW	2	68,562,329 (GRCm39)	missense	possibly damaging	0.71
R3950:4932414N04Rik	UTSW	2	68,494,747 (GRCm39)	critical splice donor site	probably null
R3951:4932414N04Rik	UTSW	2	68,494,747 (GRCm39)	critical splice donor site	probably null
R3952:4932414N04Rik	UTSW	2	68,494,747 (GRCm39)	critical splice donor site	probably null
R4091:4932414N04Rik	UTSW	2	68,575,722 (GRCm39)	missense	possibly damaging	0.73
R4118:4932414N04Rik	UTSW	2	68,566,857 (GRCm39)	missense	probably benign
R4153:4932414N04Rik	UTSW	2	68,498,941 (GRCm39)	intron	probably benign
R4210:4932414N04Rik	UTSW	2	68,490,222 (GRCm39)	start gained	probably benign
R4614:4932414N04Rik	UTSW	2	68,575,804 (GRCm39)	missense	probably benign	0.01
R4818:4932414N04Rik	UTSW	2	68,571,810 (GRCm39)	missense	probably benign
R5202:4932414N04Rik	UTSW	2	68,562,308 (GRCm39)	missense	probably benign
R5466:4932414N04Rik	UTSW	2	68,541,733 (GRCm39)	missense	probably benign	0.11
R5585:4932414N04Rik	UTSW	2	68,571,770 (GRCm39)	missense	probably benign	0.00
R5602:4932414N04Rik	UTSW	2	68,578,712 (GRCm39)	makesense	probably null
R5846:4932414N04Rik	UTSW	2	68,562,377 (GRCm39)	missense	unknown
R5902:4932414N04Rik	UTSW	2	68,539,281 (GRCm39)	start codon destroyed	probably null
R6002:4932414N04Rik	UTSW	2	68,492,768 (GRCm39)	splice site	probably null
R6029:4932414N04Rik	UTSW	2	68,524,370 (GRCm39)	splice site	probably null
R6093:4932414N04Rik	UTSW	2	68,490,214 (GRCm39)	splice site	probably benign
R6168:4932414N04Rik	UTSW	2	68,571,827 (GRCm39)	missense	possibly damaging	0.86
R6300:4932414N04Rik	UTSW	2	68,561,453 (GRCm39)	missense	possibly damaging	0.96
R6322:4932414N04Rik	UTSW	2	68,559,843 (GRCm39)	missense	probably benign	0.00
R6533:4932414N04Rik	UTSW	2	68,546,662 (GRCm39)	nonsense	probably null
R6547:4932414N04Rik	UTSW	2	68,490,251 (GRCm39)	utr 5 prime	probably benign
R7309:4932414N04Rik	UTSW	2	68,546,530 (GRCm39)	missense	probably benign	0.29
R7400:4932414N04Rik	UTSW	2	68,496,547 (GRCm39)	missense	unknown
R7454:4932414N04Rik	UTSW	2	68,518,648 (GRCm39)	missense	unknown
R7481:4932414N04Rik	UTSW	2	68,494,575 (GRCm39)	missense	unknown
R7498:4932414N04Rik	UTSW	2	68,498,012 (GRCm39)	missense	unknown
R7523:4932414N04Rik	UTSW	2	68,569,673 (GRCm39)	missense	probably benign	0.01
R7523:4932414N04Rik	UTSW	2	68,492,824 (GRCm39)	missense	unknown
R7583:4932414N04Rik	UTSW	2	68,569,670 (GRCm39)	missense	probably damaging	0.98
R7701:4932414N04Rik	UTSW	2	68,561,548 (GRCm39)	missense	possibly damaging	0.60
R7746:4932414N04Rik	UTSW	2	68,559,339 (GRCm39)	missense	probably benign	0.33
R7778:4932414N04Rik	UTSW	2	68,569,855 (GRCm39)	missense	possibly damaging	0.73
R7985:4932414N04Rik	UTSW	2	68,494,693 (GRCm39)	missense	unknown
R8525:4932414N04Rik	UTSW	2	68,559,378 (GRCm39)	missense	possibly damaging	0.83
R8765:4932414N04Rik	UTSW	2	68,566,956 (GRCm39)	missense	possibly damaging	0.85
R8906:4932414N04Rik	UTSW	2	68,562,498 (GRCm39)	missense	possibly damaging	0.85
R9406:4932414N04Rik	UTSW	2	68,498,019 (GRCm39)	missense	unknown
R9627:4932414N04Rik	UTSW	2	68,487,834 (GRCm39)	unclassified	probably benign
X0025:4932414N04Rik	UTSW	2	68,559,360 (GRCm39)	missense	probably benign	0.06

Posted On

2015-04-16