Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02620:4930430A15Rik'

300812

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4930430A15Rik

Ensembl Gene

ENSMUSG00000027157

Gene Name

RIKEN cDNA 4930430A15 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

IGL02620

Quality Score

Status

Chromosome

Chromosomal Location

111162061-111229602 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 111211625 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 322 (V322I)

Ref Sequence

ENSEMBL: ENSMUSP00000028577 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028577]

AlphaFold

Q05AC5

Predicted Effect

probably benign
Transcript: ENSMUST00000028577
AA Change: V322I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000028577
Gene: ENSMUSG00000027157
AA Change: V322I

Domain	Start	End	E-Value	Type
ANK	78	107	1.61e-4	SMART
ANK	111	140	3.6e-2	SMART
ANK	144	173	4.89e-4	SMART
ANK	177	206	4.03e-5	SMART
ANK	210	239	8.72e-1	SMART
Blast:ANK	243	272	4e-12	BLAST
low complexity region	460	472	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 37,035,945 (GRCm38)	V4174A	possibly damaging	Het
Abcc12	A	T	8: 86,505,314 (GRCm38)		probably null	Het
Ccdc150	T	A	1: 54,263,545 (GRCm38)	L108*	probably null	Het
Cdon	C	T	9: 35,452,799 (GRCm38)	T71I	probably benign	Het
Chdh	T	C	14: 30,031,139 (GRCm38)	W2R	probably damaging	Het
Ckap5	T	G	2: 91,606,369 (GRCm38)	L1605V	probably benign	Het
Cluh	C	T	11: 74,665,067 (GRCm38)	Q819*	probably null	Het
Csgalnact1	C	A	8: 68,401,492 (GRCm38)	G219V	probably damaging	Het
Cwc27	C	A	13: 104,802,206 (GRCm38)		probably benign	Het
Elk4	C	A	1: 132,018,371 (GRCm38)	A329D	probably benign	Het
Fbxo40	T	C	16: 36,966,080 (GRCm38)	H709R	probably benign	Het
Flna	A	G	X: 74,229,976 (GRCm38)		probably benign	Het
Gm20390	G	T	11: 93,952,856 (GRCm38)	R173S	possibly damaging	Het
Grip2	G	T	6: 91,778,606 (GRCm38)	D592E	possibly damaging	Het
H2-T24	T	G	17: 36,017,291 (GRCm38)	N100T	probably damaging	Het
Hepacam2	C	A	6: 3,487,280 (GRCm38)		probably benign	Het
Ighv2-2	T	A	12: 113,588,292 (GRCm38)	T109S	possibly damaging	Het
Ipo11	T	C	13: 106,876,281 (GRCm38)		probably null	Het
Kcnh8	T	C	17: 52,898,497 (GRCm38)	M540T	probably damaging	Het
Kifc3	A	G	8: 95,109,954 (GRCm38)	S82P	probably damaging	Het
Map4k5	T	C	12: 69,892,702 (GRCm38)	Y20C	probably benign	Het
Milr1	C	A	11: 106,754,918 (GRCm38)	S95R	probably damaging	Het
Mtnr1b	A	C	9: 15,874,321 (GRCm38)	V47G	possibly damaging	Het
Olfr2	T	A	7: 107,001,618 (GRCm38)	K81*	probably null	Het
Phactr2	T	C	10: 13,291,888 (GRCm38)	R100G	probably damaging	Het
Ppargc1b	A	G	18: 61,298,739 (GRCm38)	Y997H	probably damaging	Het
Pramel3	A	G	X: 135,310,409 (GRCm38)	M397V	probably benign	Het
Ptprz1	A	G	6: 22,959,740 (GRCm38)	K79E	probably damaging	Het
Rabgef1	T	C	5: 130,191,022 (GRCm38)	S109P	probably damaging	Het
Raf1	A	T	6: 115,632,887 (GRCm38)		probably benign	Het
Rptor	T	C	11: 119,780,587 (GRCm38)	L292P	probably benign	Het
Slc25a45	A	G	19: 5,884,526 (GRCm38)	D174G	probably damaging	Het
Tbcd	C	T	11: 121,461,255 (GRCm38)	T146M	probably damaging	Het
Zfp458	T	A	13: 67,257,994 (GRCm38)	H127L	probably damaging	Het

Other mutations in 4930430A15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:4930430A15Rik	APN	2	111,220,762 (GRCm38)	missense	probably damaging	0.98
IGL01403:4930430A15Rik	APN	2	111,229,170 (GRCm38)	unclassified	probably benign
IGL01431:4930430A15Rik	APN	2	111,225,395 (GRCm38)	unclassified	probably benign
IGL01601:4930430A15Rik	APN	2	111,193,478 (GRCm38)	missense	unknown
IGL01649:4930430A15Rik	APN	2	111,214,576 (GRCm38)	splice site	probably benign
IGL02355:4930430A15Rik	APN	2	111,211,651 (GRCm38)	splice site	probably benign
IGL02362:4930430A15Rik	APN	2	111,211,651 (GRCm38)	splice site	probably benign
IGL02485:4930430A15Rik	APN	2	111,228,325 (GRCm38)	missense	probably damaging	0.97
IGL03156:4930430A15Rik	APN	2	111,200,412 (GRCm38)	missense	possibly damaging	0.90
IGL02980:4930430A15Rik	UTSW	2	111,164,473 (GRCm38)	missense	unknown
R0577:4930430A15Rik	UTSW	2	111,194,349 (GRCm38)	missense	probably benign	0.27
R0638:4930430A15Rik	UTSW	2	111,200,418 (GRCm38)	missense	probably damaging	0.96
R0645:4930430A15Rik	UTSW	2	111,214,583 (GRCm38)	critical splice donor site	probably null
R0671:4930430A15Rik	UTSW	2	111,204,137 (GRCm38)	missense	possibly damaging	0.93
R0829:4930430A15Rik	UTSW	2	111,198,105 (GRCm38)	missense	possibly damaging	0.92
R1464:4930430A15Rik	UTSW	2	111,225,403 (GRCm38)	critical splice donor site	probably null
R1464:4930430A15Rik	UTSW	2	111,225,403 (GRCm38)	critical splice donor site	probably null
R1486:4930430A15Rik	UTSW	2	111,200,358 (GRCm38)	missense	possibly damaging	0.84
R1509:4930430A15Rik	UTSW	2	111,218,627 (GRCm38)	missense	probably benign
R1672:4930430A15Rik	UTSW	2	111,220,774 (GRCm38)	missense	probably benign	0.00
R2073:4930430A15Rik	UTSW	2	111,200,418 (GRCm38)	missense	probably damaging	0.96
R2074:4930430A15Rik	UTSW	2	111,200,418 (GRCm38)	missense	probably damaging	0.96
R2075:4930430A15Rik	UTSW	2	111,200,418 (GRCm38)	missense	probably damaging	0.96
R2899:4930430A15Rik	UTSW	2	111,220,670 (GRCm38)	splice site	probably benign
R2965:4930430A15Rik	UTSW	2	111,204,019 (GRCm38)	missense	possibly damaging	0.61
R3110:4930430A15Rik	UTSW	2	111,228,054 (GRCm38)	missense	probably damaging	1.00
R3112:4930430A15Rik	UTSW	2	111,228,054 (GRCm38)	missense	probably damaging	1.00
R4489:4930430A15Rik	UTSW	2	111,220,702 (GRCm38)	missense	probably benign	0.31
R4821:4930430A15Rik	UTSW	2	111,204,145 (GRCm38)	critical splice acceptor site	probably null
R4925:4930430A15Rik	UTSW	2	111,218,616 (GRCm38)	missense	probably benign	0.41
R5045:4930430A15Rik	UTSW	2	111,193,459 (GRCm38)	missense	unknown
R5057:4930430A15Rik	UTSW	2	111,225,421 (GRCm38)	missense	probably benign	0.12
R5128:4930430A15Rik	UTSW	2	111,164,329 (GRCm38)	nonsense	probably null
R5250:4930430A15Rik	UTSW	2	111,228,077 (GRCm38)	missense	possibly damaging	0.87
R5333:4930430A15Rik	UTSW	2	111,194,337 (GRCm38)	missense	possibly damaging	0.92
R5376:4930430A15Rik	UTSW	2	111,215,599 (GRCm38)	missense	probably benign	0.44
R5677:4930430A15Rik	UTSW	2	111,211,565 (GRCm38)	missense	probably benign
R5722:4930430A15Rik	UTSW	2	111,204,123 (GRCm38)	missense	probably benign
R5735:4930430A15Rik	UTSW	2	111,225,492 (GRCm38)	nonsense	probably null
R6170:4930430A15Rik	UTSW	2	111,227,948 (GRCm38)	missense	probably benign	0.03
R6366:4930430A15Rik	UTSW	2	111,169,592 (GRCm38)	critical splice donor site	probably null
R6496:4930430A15Rik	UTSW	2	111,164,472 (GRCm38)	missense	unknown
R6654:4930430A15Rik	UTSW	2	111,171,884 (GRCm38)	missense	unknown
R6983:4930430A15Rik	UTSW	2	111,228,250 (GRCm38)	critical splice donor site	probably null
R7371:4930430A15Rik	UTSW	2	111,193,481 (GRCm38)	missense	unknown
R7958:4930430A15Rik	UTSW	2	111,170,325 (GRCm38)	missense	unknown
R8421:4930430A15Rik	UTSW	2	111,218,610 (GRCm38)	nonsense	probably null
R8495:4930430A15Rik	UTSW	2	111,229,410 (GRCm38)	start codon destroyed	probably null	0.33
R8534:4930430A15Rik	UTSW	2	111,228,035 (GRCm38)	missense	possibly damaging	0.92
R8671:4930430A15Rik	UTSW	2	111,229,532 (GRCm38)	unclassified	probably benign
R8679:4930430A15Rik	UTSW	2	111,229,222 (GRCm38)	missense	possibly damaging	0.73
R8743:4930430A15Rik	UTSW	2	111,169,672 (GRCm38)	missense	unknown
R8983:4930430A15Rik	UTSW	2	111,200,356 (GRCm38)	missense	probably benign	0.00
R9213:4930430A15Rik	UTSW	2	111,190,354 (GRCm38)	missense	unknown
R9457:4930430A15Rik	UTSW	2	111,170,286 (GRCm38)	missense	unknown
R9723:4930430A15Rik	UTSW	2	111,228,355 (GRCm38)	missense	probably damaging	0.97
R9745:4930430A15Rik	UTSW	2	111,169,663 (GRCm38)	missense	unknown

Posted On

2015-04-16