Mutagenetix > Incidental Mutation

Incidental Mutation 'R3956:9330159F19Rik'

310707

Institutional Source

Beutler Lab

Gene Symbol

9330159F19Rik

Ensembl Gene

ENSMUSG00000004360

Gene Name

RIKEN cDNA 9330159F19 gene

Synonyms

MMRRC Submission

040833-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R3956 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29087602-29106775 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29100805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 393 (K393E)

Ref Sequence

ENSEMBL: ENSMUSP00000151062 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092627] [ENSMUST00000213489] [ENSMUST00000213490] [ENSMUST00000217011]

AlphaFold

D3Z623

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092627
AA Change: K393E

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090291
Gene: ENSMUSG00000004360
AA Change: K393E

Domain	Start	End	E-Value	Type
Pfam:DUF4482	15	152	3e-43	PFAM
low complexity region	270	286	N/A	INTRINSIC
low complexity region	616	635	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213489
AA Change: K393E

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000213490

Predicted Effect

probably benign
Transcript: ENSMUST00000217011

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.5%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	A	G	9: 63,526,442 (GRCm39)	E155G	probably damaging	Het
Abca16	A	G	7: 120,126,975 (GRCm39)	N1221S	probably damaging	Het
Acad11	A	G	9: 103,963,351 (GRCm39)		probably benign	Het
Acsl1	T	A	8: 46,987,495 (GRCm39)	L693Q	probably damaging	Het
Adam2	G	A	14: 66,295,059 (GRCm39)	S262L	probably damaging	Het
B3gat1	A	G	9: 26,668,324 (GRCm39)	T305A	possibly damaging	Het
BC051076	A	G	5: 88,112,110 (GRCm39)		noncoding transcript	Het
Ccni	A	G	5: 93,331,263 (GRCm39)	L236S	probably damaging	Het
Ccnq	C	A	11: 78,641,849 (GRCm39)	E214*	probably null	Het
Cdc45	A	G	16: 18,624,180 (GRCm39)	V119A	probably benign	Het
Clspn	ACGGCGGCGGC	A	4: 126,460,230 (GRCm39)		probably null	Het
Creld1	A	G	6: 113,469,190 (GRCm39)	D340G	possibly damaging	Het
Cyrib	T	C	15: 63,813,823 (GRCm39)	Y158C	probably damaging	Het
Dipk1b	C	T	2: 26,525,579 (GRCm39)	P171L	probably benign	Het
Dnah2	T	A	11: 69,374,847 (GRCm39)	I1417L	probably benign	Het
Efhc1	A	C	1: 21,048,890 (GRCm39)	K434N	probably damaging	Het
Evi5l	T	C	8: 4,241,358 (GRCm39)	V297A	possibly damaging	Het
Fkbp8	T	G	8: 70,987,517 (GRCm39)	S376A	probably damaging	Het
Gfod1	A	T	13: 43,354,538 (GRCm39)	C146S	probably damaging	Het
Greb1	G	T	12: 16,732,300 (GRCm39)	P1554T	probably damaging	Het
Grip1	A	T	10: 119,765,931 (GRCm39)	I88F	probably damaging	Het
Hbq1a	T	C	11: 32,250,214 (GRCm39)		probably null	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Kmt2e	A	G	5: 23,701,023 (GRCm39)	T121A	probably benign	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Mfsd2b	A	T	12: 4,916,848 (GRCm39)	F194Y	probably damaging	Het
Mtmr3	A	T	11: 4,441,138 (GRCm39)	V504E	probably damaging	Het
Neb	C	T	2: 52,091,975 (GRCm39)	V5030M	possibly damaging	Het
Nup210l	A	T	3: 90,100,361 (GRCm39)	R1462S	possibly damaging	Het
Or5ac17	G	A	16: 59,036,428 (GRCm39)	Q183*	probably null	Het
Or5al1	A	G	2: 85,990,282 (GRCm39)	V144A	probably benign	Het
Or5al5	C	T	2: 85,961,363 (GRCm39)	V215I	probably benign	Het
Pmfbp1	A	G	8: 110,256,801 (GRCm39)	S502G	probably benign	Het
Prb1c	G	T	6: 132,338,814 (GRCm39)	Q135K	unknown	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Qng1	A	G	13: 58,532,203 (GRCm39)	S118P	probably damaging	Het
Ralgapa2	C	T	2: 146,277,884 (GRCm39)	V426I	probably damaging	Het
Rasgrf2	A	G	13: 92,130,974 (GRCm39)	S696P	probably damaging	Het
Riok3	T	A	18: 12,276,031 (GRCm39)	Y242*	probably null	Het
Robo2	T	G	16: 73,758,755 (GRCm39)	Y672S	probably damaging	Het
Rsbn1	A	G	3: 103,835,991 (GRCm39)	H343R	probably damaging	Het
Sar1a	A	T	10: 61,522,172 (GRCm39)	N88I	possibly damaging	Het
Sgcz	A	G	8: 37,993,346 (GRCm39)		probably benign	Het
Spmip9	A	G	6: 70,890,469 (GRCm39)	Y108H	possibly damaging	Het
Tbc1d9	C	T	8: 83,960,161 (GRCm39)	T138I	probably damaging	Het
Tlcd5	C	A	9: 43,022,808 (GRCm39)	C182F	probably damaging	Het
Tmem131l	C	A	3: 83,817,726 (GRCm39)	C1257F	probably damaging	Het
Top6bl	T	A	19: 4,742,525 (GRCm39)	T214S	probably benign	Het
Ttn	A	G	2: 76,799,593 (GRCm39)	V429A	possibly damaging	Het
Umodl1	A	G	17: 31,221,837 (GRCm39)	T1280A	probably benign	Het
Xpnpep3	A	G	15: 81,335,230 (GRCm39)		probably benign	Het

Other mutations in 9330159F19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00958:9330159F19Rik	APN	10	29,103,324 (GRCm39)	missense	probably benign	0.13
IGL01766:9330159F19Rik	APN	10	29,100,557 (GRCm39)	missense	probably benign	0.00
IGL01896:9330159F19Rik	APN	10	29,101,154 (GRCm39)	missense	possibly damaging	0.84
IGL01988:9330159F19Rik	APN	10	29,101,107 (GRCm39)	missense	probably benign	0.08
IGL03007:9330159F19Rik	APN	10	29,098,034 (GRCm39)	missense	possibly damaging	0.66
PIT1430001:9330159F19Rik	UTSW	10	29,100,711 (GRCm39)	missense	probably damaging	1.00
R0256:9330159F19Rik	UTSW	10	29,098,252 (GRCm39)	missense	probably damaging	1.00
R0490:9330159F19Rik	UTSW	10	29,103,338 (GRCm39)	missense	probably damaging	0.99
R1755:9330159F19Rik	UTSW	10	29,098,290 (GRCm39)	missense	possibly damaging	0.92
R1759:9330159F19Rik	UTSW	10	29,094,272 (GRCm39)	missense	possibly damaging	0.51
R1836:9330159F19Rik	UTSW	10	29,097,795 (GRCm39)	missense	probably damaging	0.98
R2373:9330159F19Rik	UTSW	10	29,101,039 (GRCm39)	missense	probably benign	0.00
R2511:9330159F19Rik	UTSW	10	29,097,902 (GRCm39)	missense	probably damaging	0.96
R3113:9330159F19Rik	UTSW	10	29,100,372 (GRCm39)	nonsense	probably null
R3755:9330159F19Rik	UTSW	10	29,098,110 (GRCm39)	missense	probably damaging	0.98
R3954:9330159F19Rik	UTSW	10	29,100,805 (GRCm39)	missense	possibly damaging	0.92
R3957:9330159F19Rik	UTSW	10	29,100,805 (GRCm39)	missense	possibly damaging	0.92
R4321:9330159F19Rik	UTSW	10	29,100,887 (GRCm39)	missense	probably damaging	1.00
R4510:9330159F19Rik	UTSW	10	29,100,819 (GRCm39)	missense	probably benign
R4511:9330159F19Rik	UTSW	10	29,100,819 (GRCm39)	missense	probably benign
R4717:9330159F19Rik	UTSW	10	29,097,783 (GRCm39)	missense	probably damaging	1.00
R5336:9330159F19Rik	UTSW	10	29,100,495 (GRCm39)	missense	probably damaging	0.98
R5401:9330159F19Rik	UTSW	10	29,101,136 (GRCm39)	missense	probably benign	0.03
R5585:9330159F19Rik	UTSW	10	29,101,271 (GRCm39)	missense	possibly damaging	0.95
R5635:9330159F19Rik	UTSW	10	29,094,273 (GRCm39)	missense	possibly damaging	0.93
R5647:9330159F19Rik	UTSW	10	29,101,250 (GRCm39)	missense	probably damaging	0.99
R6831:9330159F19Rik	UTSW	10	29,100,675 (GRCm39)	missense	probably benign	0.44
R7085:9330159F19Rik	UTSW	10	29,100,476 (GRCm39)	missense	probably damaging	0.96
R7779:9330159F19Rik	UTSW	10	29,101,316 (GRCm39)	missense	probably damaging	1.00
R7813:9330159F19Rik	UTSW	10	29,100,896 (GRCm39)	missense	probably benign	0.41
R8209:9330159F19Rik	UTSW	10	29,094,195 (GRCm39)	missense	probably damaging	0.99
R8224:9330159F19Rik	UTSW	10	29,094,249 (GRCm39)	missense	probably damaging	1.00
R8226:9330159F19Rik	UTSW	10	29,094,195 (GRCm39)	missense	probably damaging	0.99
R8492:9330159F19Rik	UTSW	10	29,094,243 (GRCm39)	missense	possibly damaging	0.95
R8832:9330159F19Rik	UTSW	10	29,100,341 (GRCm39)	missense	probably damaging	1.00
R9369:9330159F19Rik	UTSW	10	29,100,974 (GRCm39)	missense	probably damaging	1.00
R9665:9330159F19Rik	UTSW	10	29,103,344 (GRCm39)	missense	probably benign	0.03
R9722:9330159F19Rik	UTSW	10	29,094,269 (GRCm39)	missense	probably benign	0.39
R9796:9330159F19Rik	UTSW	10	29,101,349 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TTCCACAAGAAGGCAAGAGTTTG -3'
(R):5'- GCTGTATTGCTTGACAACTTCTG -3'

Sequencing Primer
(F):5'- GCAAGAGTTTGAAAGATAGTACCATG -3'
(R):5'- TCGTCAATCTTTGCAGCC -3'

Posted On

2015-04-29