Mutagenetix > Incidental Mutation

Incidental Mutation 'R2051:4932414N04Rik'

226380

Institutional Source

Beutler Lab

Gene Symbol

4932414N04Rik

Ensembl Gene

ENSMUSG00000079324

Gene Name

RIKEN cDNA 4932414N04 gene

Synonyms

MMRRC Submission

040058-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2051 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68656486-68748467 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 68711048 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 10 (K10N)

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: K10N

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000059809
Gene: ENSMUSG00000079324
AA Change: K10N

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: K10N

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000135792
Gene: ENSMUSG00000079324
AA Change: K10N

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

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	G	A	5: 138,564,185	T98M	probably damaging	Het
Aadat	T	A	8: 60,507,139	S40T	probably benign	Het
Abca13	A	G	11: 9,328,098	I3093V	probably benign	Het
Acacb	A	T	5: 114,245,890	Q2160L	probably damaging	Het
Acp6	G	T	3: 97,168,017	S189I	probably benign	Het
Actr5	A	T	2: 158,632,293	M339L	probably benign	Het
Adcy1	A	T	11: 7,161,885	K917*	probably null	Het
Adgrg5	C	T	8: 94,942,067	R504C	probably benign	Het
Ago1	T	C	4: 126,460,453	H188R	probably benign	Het
Akap9	T	A	5: 3,975,685	C23*	probably null	Het
Ank3	T	C	10: 69,898,090	I728T	probably damaging	Het
Ankrd50	A	G	3: 38,454,493	S1242P	probably benign	Het
Arhgap29	G	A	3: 121,981,860	R84H	probably benign	Het
Arhgef10	A	G	8: 14,945,320	D7G	probably null	Het
Arid4b	A	G	13: 14,187,645	E898G	probably damaging	Het
Atrnl1	A	G	19: 57,691,849	N727S	probably benign	Het
Baalc	G	T	15: 38,933,234		probably benign	Het
Cdc25c	G	C	18: 34,738,239	L275V	probably damaging	Het
Chpf2	G	T	5: 24,591,276	V407L	probably benign	Het
Chrnb3	C	A	8: 27,386,811	N84K	probably damaging	Het
Cnot1	A	G	8: 95,724,593	F2171L	possibly damaging	Het
Csmd3	C	T	15: 48,621,993		probably null	Het
Cux1	T	A	5: 136,332,658	Q138L	probably damaging	Het
Cyp2c65	A	G	19: 39,082,231	N286S	probably benign	Het
Dclre1b	T	C	3: 103,809,040	S17G	possibly damaging	Het
Dlgap5	A	G	14: 47,411,484	S221P	probably benign	Het
Dnah1	T	G	14: 31,279,123	T2422P	probably damaging	Het
Enpp1	A	G	10: 24,711,804		probably null	Het
Erbb2	T	C	11: 98,420,172	C53R	probably damaging	Het
Exoc8	A	G	8: 124,895,480	V716A	probably benign	Het
Fam193a	T	A	5: 34,462,150	D766E	probably benign	Het
Fbxo43	C	A	15: 36,162,132	G310W	probably damaging	Het
Fcgbp	C	T	7: 28,120,360	T2504I	probably damaging	Het
Fnbp4	C	T	2: 90,757,532	P418L	probably benign	Het
Gjd2	T	C	2: 114,011,058	T313A	probably damaging	Het
Gm12695	T	A	4: 96,769,771	R54W	probably damaging	Het
Gm128	T	C	3: 95,240,740	D81G	possibly damaging	Het
Gm21834	A	G	17: 57,741,768	V151A	possibly damaging	Het
Grhl1	T	A	12: 24,586,152		probably null	Het
Hcn1	C	T	13: 117,976,083	T861I	probably damaging	Het
Herc6	C	A	6: 57,625,976	Q547K	probably benign	Het
Iqgap3	T	C	3: 88,120,167	L699P	probably damaging	Het
Kank4	T	C	4: 98,780,102	D36G	probably damaging	Het
Kcnk5	A	T	14: 20,142,209	S295T	probably damaging	Het
Krt18	T	C	15: 102,029,500	V144A	probably benign	Het
Krtap9-5	A	G	11: 99,949,204	I244V	unknown	Het
Leng1	T	G	7: 3,665,401	N16T	probably damaging	Het
Lss	A	G	10: 76,531,878	K15E	possibly damaging	Het
Mastl	G	T	2: 23,132,824	A629E	possibly damaging	Het
Mavs	G	C	2: 131,240,450	A85P	possibly damaging	Het
Nav3	T	C	10: 109,824,675	D678G	probably damaging	Het
Nsd3	T	G	8: 25,691,089	S906A	probably damaging	Het
Nsfl1c	A	G	2: 151,503,082	N118S	probably damaging	Het
Nup205	T	A	6: 35,230,516	M1501K	probably benign	Het
Olfr1178	C	T	2: 88,391,538	T97M	possibly damaging	Het
Olfr429	T	A	1: 174,089,219	Y60N	possibly damaging	Het
Pax8	A	G	2: 24,436,508	S281P	probably benign	Het
Pds5b	T	G	5: 150,748,190	I433R	probably damaging	Het
Peg3	T	C	7: 6,712,721	N117D	probably damaging	Het
Pfkm	A	T	15: 98,131,692	D728V	probably benign	Het
Phkb	T	C	8: 86,049,821		probably null	Het
Pkp4	T	C	2: 59,334,904	V704A	probably benign	Het
Ppfia2	T	A	10: 106,837,299	S501T	probably damaging	Het
Ptpru	T	C	4: 131,819,087	E284G	possibly damaging	Het
Ror1	C	T	4: 100,407,868	R180*	probably null	Het
Ryr3	T	A	2: 112,756,641	Y2666F	probably damaging	Het
Sec23a	C	A	12: 58,990,968		probably null	Het
Sertad3	C	T	7: 27,476,269	Q43*	probably null	Het
Setd2	C	T	9: 110,550,890	H1258Y	probably benign	Het
Sharpin	A	G	15: 76,348,207	S177P	probably benign	Het
Skap1	T	C	11: 96,541,463	F86S	possibly damaging	Het
Slc8a2	T	C	7: 16,141,015	I396T	probably damaging	Het
Slc9a2	T	C	1: 40,726,437	F329S	probably damaging	Het
Slx4ip	C	T	2: 137,066,205	L161F	possibly damaging	Het
Sox4	A	G	13: 28,952,781	S81P	probably damaging	Het
Ssc4d	G	T	5: 135,970,264	S28R	probably benign	Het
St8sia2	C	T	7: 73,943,202	G369S	possibly damaging	Het
Swt1	T	C	1: 151,372,330	Y836C	probably damaging	Het
Taar7d	A	G	10: 24,028,006	D262G	probably benign	Het
Taar8b	T	A	10: 24,091,314	L327F	probably benign	Het
Tars	A	T	15: 11,393,194	L138*	probably null	Het
Tbcd	A	T	11: 121,453,670	D75V	probably damaging	Het
Tesc	A	G	5: 118,046,329	I25V	probably damaging	Het
Tmem132e	G	T	11: 82,440,438	S407I	probably damaging	Het
Tmem50b	C	A	16: 91,580,292	A95S	possibly damaging	Het
Tnr	T	C	1: 159,892,033	I960T	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tpcn1	G	C	5: 120,543,388	P532A	probably damaging	Het
Tpsb2	T	C	17: 25,366,565		probably benign	Het
Triobp	C	A	15: 79,004,540	H1948Q	probably damaging	Het
Tshb	T	C	3: 102,777,541	I116V	probably benign	Het
Ttc13	A	T	8: 124,672,211		probably null	Het
Usp34	A	T	11: 23,464,468	T2804S	probably damaging	Het
Vmn2r18	A	T	5: 151,562,551	C493S	possibly damaging	Het
Vmn2r2	T	C	3: 64,117,345	K605R	possibly damaging	Het
Vmn2r37	T	C	7: 9,217,793	Y357C	probably damaging	Het
Zc3h6	T	G	2: 129,015,618	S686A	possibly damaging	Het
Zfp608	G	A	18: 54,988,314	P67L	probably benign	Het
Zyg11a	T	C	4: 108,192,047		probably benign	Het

Other mutations in 4932414N04Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:4932414N04Rik	APN	2	68732875	missense	probably benign	0.02
IGL01384:4932414N04Rik	APN	2	68745405	missense	possibly damaging	0.53
IGL02170:4932414N04Rik	APN	2	68731123	missense	probably benign	0.02
IGL02650:4932414N04Rik	APN	2	68741537	missense	probably benign	0.00
IGL02707:4932414N04Rik	APN	2	68731130	missense	possibly damaging	0.71
IGL02737:4932414N04Rik	APN	2	68736560	missense	possibly damaging	0.53
IGL03351:4932414N04Rik	APN	2	68731083	missense	probably benign
R0328:4932414N04Rik	UTSW	2	68744280	missense	possibly damaging	0.53
R0362:4932414N04Rik	UTSW	2	68732917	missense	probably benign	0.00
R0638:4932414N04Rik	UTSW	2	68717228	missense	probably benign	0.18
R1201:4932414N04Rik	UTSW	2	68716282	missense	possibly damaging	0.53
R1381:4932414N04Rik	UTSW	2	68731086	missense	probably benign	0.18
R1456:4932414N04Rik	UTSW	2	68716214	missense	possibly damaging	0.86
R2001:4932414N04Rik	UTSW	2	68741456	missense	probably benign
R2228:4932414N04Rik	UTSW	2	68729591	missense	probably benign	0.00
R2292:4932414N04Rik	UTSW	2	68732139	missense	probably benign	0.00
R2357:4932414N04Rik	UTSW	2	68739500	missense	possibly damaging	0.86
R2484:4932414N04Rik	UTSW	2	68711475	missense	possibly damaging	0.85
R3035:4932414N04Rik	UTSW	2	68745418	missense	probably benign	0.00
R3916:4932414N04Rik	UTSW	2	68731985	missense	possibly damaging	0.71
R3950:4932414N04Rik	UTSW	2	68664403	critical splice donor site	probably null
R3951:4932414N04Rik	UTSW	2	68664403	critical splice donor site	probably null
R3952:4932414N04Rik	UTSW	2	68664403	critical splice donor site	probably null
R4091:4932414N04Rik	UTSW	2	68745378	missense	possibly damaging	0.73
R4118:4932414N04Rik	UTSW	2	68736513	missense	probably benign
R4153:4932414N04Rik	UTSW	2	68668597	intron	probably benign
R4210:4932414N04Rik	UTSW	2	68659878	start gained	probably benign
R4614:4932414N04Rik	UTSW	2	68745460	missense	probably benign	0.01
R4818:4932414N04Rik	UTSW	2	68741466	missense	probably benign
R5202:4932414N04Rik	UTSW	2	68731964	missense	probably benign
R5466:4932414N04Rik	UTSW	2	68711389	missense	probably benign	0.11
R5585:4932414N04Rik	UTSW	2	68741426	missense	probably benign	0.00
R5602:4932414N04Rik	UTSW	2	68748368	makesense	probably null
R5846:4932414N04Rik	UTSW	2	68732033	missense	unknown
R5902:4932414N04Rik	UTSW	2	68708937	start codon destroyed	probably null
R6002:4932414N04Rik	UTSW	2	68662424	splice site	probably null
R6029:4932414N04Rik	UTSW	2	68694026	splice site	probably null
R6093:4932414N04Rik	UTSW	2	68659870	splice site	probably benign
R6168:4932414N04Rik	UTSW	2	68741483	missense	possibly damaging	0.86
R6300:4932414N04Rik	UTSW	2	68731109	missense	possibly damaging	0.96
R6322:4932414N04Rik	UTSW	2	68729499	missense	probably benign	0.00
R6533:4932414N04Rik	UTSW	2	68716318	nonsense	probably null
R6547:4932414N04Rik	UTSW	2	68659907	utr 5 prime	probably benign
R7309:4932414N04Rik	UTSW	2	68716186	missense	probably benign	0.29
R7400:4932414N04Rik	UTSW	2	68666203	missense	unknown
R7454:4932414N04Rik	UTSW	2	68688304	missense	unknown
R7481:4932414N04Rik	UTSW	2	68664231	missense	unknown
R7498:4932414N04Rik	UTSW	2	68667668	missense	unknown
R7523:4932414N04Rik	UTSW	2	68662480	missense	unknown
R7523:4932414N04Rik	UTSW	2	68739329	missense	probably benign	0.01
R7583:4932414N04Rik	UTSW	2	68739326	missense	probably damaging	0.98
R7701:4932414N04Rik	UTSW	2	68731204	missense	possibly damaging	0.60
R7746:4932414N04Rik	UTSW	2	68728995	missense	probably benign	0.33
R7778:4932414N04Rik	UTSW	2	68739511	missense	possibly damaging	0.73
R7985:4932414N04Rik	UTSW	2	68664349	missense	unknown
R8525:4932414N04Rik	UTSW	2	68729034	missense	possibly damaging	0.83
R8765:4932414N04Rik	UTSW	2	68736612	missense	possibly damaging	0.85
R8906:4932414N04Rik	UTSW	2	68732154	missense	possibly damaging	0.85
R9406:4932414N04Rik	UTSW	2	68667675	missense	unknown
R9627:4932414N04Rik	UTSW	2	68657490	unclassified	probably benign
X0025:4932414N04Rik	UTSW	2	68729016	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TGCTCTCAGAAAGTTTGCTCAG -3'
(R):5'- GGCCAATATTTTGCCTATCGATC -3'

Sequencing Primer
(F):5'- TTTCACTGAATCTCACTTGTAGAAG -3'
(R):5'- AAAGCTAGACTTTGTCCCT -3'

Posted On

2014-09-17