Mutagenetix > Incidental Mutation

Incidental Mutation 'R6300:4932414N04Rik'

509008

Institutional Source

Beutler Lab

Gene Symbol

4932414N04Rik

Ensembl Gene

ENSMUSG00000079324

Gene Name

RIKEN cDNA 4932414N04 gene

Synonyms

MMRRC Submission

044409-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6300 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68487135-68578876 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68561453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 260 (Y260C)

Ref Sequence

ENSEMBL: ENSMUSP00000135792 (fasta)

Gene Model

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

AlphaFold

Q8CEQ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055930
AA Change: Y260C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000059809
Gene: ENSMUSG00000079324
AA Change: Y260C

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

possibly damaging
Transcript: ENSMUST00000128259
AA Change: Y260C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135792
Gene: ENSMUSG00000079324
AA Change: Y260C

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	G	7: 40,642,885 (GRCm39)	T185A	possibly damaging	Het
Adamtsl1	G	A	4: 86,166,254 (GRCm39)	G395S	probably damaging	Het
Amn	T	C	12: 111,240,623 (GRCm39)	L85P	probably benign	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Ap1s3	T	C	1: 79,602,840 (GRCm39)	K56E	probably damaging	Het
Apeh	G	A	9: 107,969,878 (GRCm39)	H186Y	probably damaging	Het
Apip	C	T	2: 102,917,498 (GRCm39)	R66C	possibly damaging	Het
Apob	C	T	12: 8,057,769 (GRCm39)	R2084*	probably null	Het
Apol6	A	T	15: 76,935,471 (GRCm39)	I247L	probably benign	Het
Arfgap2	A	G	2: 91,097,540 (GRCm39)	Q112R	probably benign	Het
Armh1	A	G	4: 117,088,979 (GRCm39)	Y139H	probably damaging	Het
Bag6	T	C	17: 35,357,577 (GRCm39)	V122A	probably damaging	Het
Bmal2	A	G	6: 146,723,444 (GRCm39)	Y258C	probably damaging	Het
Cacna1e	T	A	1: 154,301,678 (GRCm39)	T1685S	probably benign	Het
Cct2	C	T	10: 116,892,064 (GRCm39)	G328D	probably damaging	Het
Cd163	T	A	6: 124,294,950 (GRCm39)	C671*	probably null	Het
Cers5	G	T	15: 99,670,100 (GRCm39)	A54E	probably damaging	Het
Ctdp1	T	A	18: 80,502,455 (GRCm39)	M152L	probably benign	Het
Cul3	A	G	1: 80,264,669 (GRCm39)	V211A	probably damaging	Het
Defb36	T	A	2: 152,454,418 (GRCm39)	W26R	probably damaging	Het
Dnah17	T	C	11: 117,925,136 (GRCm39)	E3899G	probably damaging	Het
Dnah6	A	T	6: 73,042,798 (GRCm39)	I3208N	probably damaging	Het
Dnah7b	T	C	1: 46,365,046 (GRCm39)	F3609S	probably damaging	Het
Duox1	T	G	2: 122,168,181 (GRCm39)	L1102R	probably damaging	Het
Dzip3	A	G	16: 48,772,170 (GRCm39)	S500P	probably damaging	Het
Endod1	T	C	9: 14,268,166 (GRCm39)	T440A	probably benign	Het
Exph5	A	G	9: 53,285,246 (GRCm39)	T776A	possibly damaging	Het
Gabrg2	T	C	11: 41,891,350 (GRCm39)		probably null	Het
Hoxd3	A	G	2: 74,574,420 (GRCm39)	Y22C	probably damaging	Het
Hspe1	T	A	1: 55,129,860 (GRCm39)		probably null	Het
Il6ra	A	G	3: 89,794,436 (GRCm39)	V175A	probably damaging	Het
Kat6a	A	G	8: 23,429,628 (GRCm39)	Q1661R	unknown	Het
Klhl18	T	A	9: 110,265,130 (GRCm39)	N362I	probably benign	Het
Marchf10	T	C	11: 105,273,063 (GRCm39)	E692G	probably damaging	Het
Mars1	G	A	10: 127,132,429 (GRCm39)	T856M	probably benign	Het
Mef2b	C	T	8: 70,619,769 (GRCm39)	T285I	possibly damaging	Het
Mmrn2	T	C	14: 34,119,614 (GRCm39)	S198P	probably benign	Het
Nek5	T	A	8: 22,597,737 (GRCm39)	M281L	probably benign	Het
Or2y15	T	A	11: 49,351,039 (GRCm39)	C178S	probably damaging	Het
Or52e19	A	T	7: 102,959,636 (GRCm39)	H236L	probably benign	Het
Or52e7	G	A	7: 104,684,878 (GRCm39)	V158M	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Pcdhgb5	T	A	18: 37,865,752 (GRCm39)	F516I	probably damaging	Het
Pds5b	T	A	5: 150,646,713 (GRCm39)	N167K	possibly damaging	Het
Pepd	G	A	7: 34,668,968 (GRCm39)	R196H	probably damaging	Het
Pla2g4e	A	T	2: 120,013,219 (GRCm39)	M367K	probably benign	Het
Prdm4	A	G	10: 85,746,085 (GRCm39)		probably null	Het
Reln	A	G	5: 22,101,839 (GRCm39)	Y3364H	probably damaging	Het
Rufy4	T	A	1: 74,172,383 (GRCm39)	S369T	probably benign	Het
Ryr2	T	A	13: 11,695,885 (GRCm39)	H2994L	probably damaging	Het
Safb2	T	C	17: 56,870,226 (GRCm39)	H950R	possibly damaging	Het
Serpina3k	A	T	12: 104,306,981 (GRCm39)	N71I	probably damaging	Het
Sez6	T	C	11: 77,867,367 (GRCm39)	V788A	possibly damaging	Het
Sfrp4	G	A	13: 19,808,023 (GRCm39)	A141T	probably damaging	Het
Skor1	A	T	9: 63,052,596 (GRCm39)	W458R	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc19a2	C	T	1: 164,084,344 (GRCm39)	T78M	probably damaging	Het
Slc8a3	T	A	12: 81,361,752 (GRCm39)	I356F	probably damaging	Het
Smc4	T	C	3: 68,935,224 (GRCm39)	V771A	probably benign	Het
Snapc4	A	G	2: 26,268,563 (GRCm39)	S33P	probably benign	Het
Tcte1	T	C	17: 45,844,215 (GRCm39)	S64P	possibly damaging	Het
Thsd7a	G	T	6: 12,471,103 (GRCm39)	S505*	probably null	Het
Tjp3	T	A	10: 81,116,951 (GRCm39)	R193*	probably null	Het
Tm7sf2	A	T	19: 6,117,230 (GRCm39)	W58R	probably damaging	Het
Top3a	T	C	11: 60,640,234 (GRCm39)	D488G	probably benign	Het
Ttc21a	T	C	9: 119,790,905 (GRCm39)	S884P	possibly damaging	Het
Usp17lb	A	G	7: 104,489,898 (GRCm39)	L342P	probably damaging	Het
Utrn	T	A	10: 12,377,220 (GRCm39)	Y2612F	probably benign	Het
Vwa3a	A	G	7: 120,381,623 (GRCm39)	N3S	probably damaging	Het
Zfp382	G	A	7: 29,831,054 (GRCm39)		probably null	Het
Zfp672	A	T	11: 58,208,094 (GRCm39)	C76S	probably damaging	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
IGL02650:4932414N04Rik	APN	2	68,571,881 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- ACTTAGCAGCTGAAATCAATGC -3'
(R):5'- CTTTTGTGAGAGATGATTAAGGAGC -3'

Sequencing Primer
(F):5'- GAATGGTAAATGCTTTACAGTCTACC -3'
(R):5'- GGGTTTTACTCACTCCATC -3'

Posted On

2018-04-02