Mutagenetix > Incidental Mutation

Incidental Mutation 'R7411:9130011E15Rik'

575118

Institutional Source

Beutler Lab

Gene Symbol

9130011E15Rik

Ensembl Gene

ENSMUSG00000039901

Gene Name

RIKEN cDNA 9130011E15 gene

Synonyms

MMRRC Submission

045492-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7411 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45818144-45998488 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 45965435 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 170 (V170G)

Ref Sequence

ENSEMBL: ENSMUSP00000048454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045396]

AlphaFold

Q6PD19

Predicted Effect

probably benign
Transcript: ENSMUST00000045396
AA Change: V170G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000048454
Gene: ENSMUSG00000039901
AA Change: V170G

Domain	Start	End	E-Value	Type
low complexity region	155	167	N/A	INTRINSIC
low complexity region	327	348	N/A	INTRINSIC
DUF1741	435	671	5.65e-139	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	T	19: 3,717,241	T276I	possibly damaging	Het
Abca17	A	G	17: 24,328,569	I277T	possibly damaging	Het
Abcb11	C	T	2: 69,303,936		probably null	Het
Abcc12	C	A	8: 86,560,850	R122L	possibly damaging	Het
Abcc8	A	G	7: 46,165,917		probably null	Het
Adam28	C	T	14: 68,626,947	R469K	probably damaging	Het
Adamts18	T	C	8: 113,777,730	Y243C	probably damaging	Het
Agbl3	T	C	6: 34,814,819	S619P	probably damaging	Het
Alpk3	A	T	7: 81,092,852	T806S	probably benign	Het
Atoh1	T	A	6: 64,729,930	I203N	probably damaging	Het
Cables1	A	G	18: 11,840,515	E237G	probably benign	Het
Cacna1d	A	G	14: 30,352,990	M1T	probably null	Het
Ccdc91	C	T	6: 147,592,198	Q363*	probably null	Het
Ceacam5	T	A	7: 17,750,753	D473E	probably damaging	Het
Cfap54	T	A	10: 92,868,755	D2821V	unknown	Het
Clca3a2	A	G	3: 144,802,099	S737P	probably damaging	Het
Clec4n	T	A	6: 123,232,186	M70K	probably benign	Het
Dstyk	G	A	1: 132,417,666	G21S	probably benign	Het
Enpp5	A	G	17: 44,081,475	D265G	probably damaging	Het
Gabrb1	T	C	5: 72,122,195		probably null	Het
Gm11639	T	G	11: 104,999,723	N4210K	probably benign	Het
Gm28710	A	T	5: 16,824,765	T500S	possibly damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,817		probably benign	Het
Gm5861	T	A	5: 11,183,149		probably null	Het
Gm9513	T	C	9: 36,475,684	V16A	possibly damaging	Het
Guk1	A	G	11: 59,185,985	F91L		Het
Ints1	C	T	5: 139,764,260	E961K	possibly damaging	Het
Irx2	T	A	13: 72,629,063	M1K	probably null	Het
Jrk	C	T	15: 74,707,199	R79H	possibly damaging	Het
Kcnu1	G	T	8: 25,892,088	V489L	probably damaging	Het
Kctd7	C	T	5: 130,152,424	T209M	probably benign	Het
Kdm5a	T	A	6: 120,426,815	V1127E	probably damaging	Het
Klk6	A	G	7: 43,826,943	H69R	probably damaging	Het
Lck	T	C	4: 129,551,970	K340R	probably benign	Het
Lrrc75a	A	G	11: 62,605,908	L276P	probably damaging	Het
Med25	A	G	7: 44,878,243	W730R	probably damaging	Het
Muc4	T	C	16: 32,751,322	V400A	probably benign	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Myt1	C	A	2: 181,815,106	H906Q	probably damaging	Het
Ncl	A	T	1: 86,350,842	F673I	probably damaging	Het
Nfe2l1	G	T	11: 96,822,183	T216N	probably benign	Het
Nos2	G	A	11: 78,944,855		probably null	Het
Nphp4	T	A	4: 152,554,717	I935N	probably benign	Het
Ntn1	G	A	11: 68,386,089	A11V	probably benign	Het
Olfr1257	T	C	2: 89,881,261	V145A	probably damaging	Het
Olfr1395	A	T	11: 49,148,994	M246L	probably benign	Het
Pcdha12	A	G	18: 37,021,608	Y460C	probably damaging	Het
Pcdha4	G	T	18: 36,953,058	R98L	probably benign	Het
Pitpnc1	A	G	11: 107,212,572	S234P	probably damaging	Het
Pmfbp1	A	T	8: 109,513,871	Y195F	probably damaging	Het
Prl6a1	T	C	13: 27,318,142	I164T	probably damaging	Het
Ptpn18	G	A	1: 34,472,192		probably null	Het
Rhbdl2	G	A	4: 123,829,642	A280T	possibly damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,579,932		probably benign	Het
Sema3a	T	G	5: 13,516,263	Y171*	probably null	Het
Set	A	G	2: 30,066,885	E22G	probably benign	Het
Sirpb1b	A	T	3: 15,542,997	D229E	probably benign	Het
Slc12a2	A	T	18: 57,941,013	I1096F	probably benign	Het
Slc30a5	T	C	13: 100,818,180	I159V	probably benign	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 126,389,038		probably benign	Het
Slc6a20b	A	G	9: 123,604,948	I275T	probably benign	Het
Stradb	A	C	1: 58,988,518	D69A	possibly damaging	Het
Supt16	A	T	14: 52,178,051	V409E	probably damaging	Het
Tcea2	A	G	2: 181,686,664	N195S	probably damaging	Het
Thumpd3	T	C	6: 113,056,111	V270A	possibly damaging	Het
Urgcp	T	A	11: 5,718,116	H117L	probably benign	Het
Vps13c	T	A	9: 67,972,001	M3408K	probably damaging	Het
Wdfy4	A	C	14: 33,106,131	M1078R		Het
Wdr63	A	G	3: 146,097,145	V97A	probably damaging	Het
Ypel5	G	A	17: 72,846,444		probably null	Het

Other mutations in 9130011E15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:9130011E15Rik	APN	19	45940488	missense	probably benign	0.19
IGL00788:9130011E15Rik	APN	19	45932350	critical splice donor site	probably null
IGL01356:9130011E15Rik	APN	19	45966303	missense	possibly damaging	0.94
IGL01477:9130011E15Rik	APN	19	45978604	missense	probably damaging	0.99
IGL01660:9130011E15Rik	APN	19	45940476	missense	probably damaging	1.00
IGL02193:9130011E15Rik	APN	19	45972884	missense	probably benign	0.02
IGL02863:9130011E15Rik	APN	19	45958411	missense	probably damaging	1.00
IGL03108:9130011E15Rik	APN	19	45820353	missense	probably damaging	0.99
R0035:9130011E15Rik	UTSW	19	45891240	missense	probably damaging	1.00
R0791:9130011E15Rik	UTSW	19	45933868	splice site	probably null
R0792:9130011E15Rik	UTSW	19	45933868	splice site	probably null
R1487:9130011E15Rik	UTSW	19	45940443	critical splice donor site	probably null
R1843:9130011E15Rik	UTSW	19	45975252	missense	probably benign	0.17
R2061:9130011E15Rik	UTSW	19	45978667	missense	probably damaging	1.00
R2070:9130011E15Rik	UTSW	19	45891285	missense	probably damaging	1.00
R2072:9130011E15Rik	UTSW	19	45965381	missense	probably damaging	0.99
R2073:9130011E15Rik	UTSW	19	45965381	missense	probably damaging	0.99
R2074:9130011E15Rik	UTSW	19	45965381	missense	probably damaging	0.99
R2091:9130011E15Rik	UTSW	19	45952680	missense	probably damaging	1.00
R2263:9130011E15Rik	UTSW	19	45932349	critical splice donor site	probably null
R2863:9130011E15Rik	UTSW	19	45885957	missense	probably damaging	1.00
R3236:9130011E15Rik	UTSW	19	45975283	splice site	probably benign
R3796:9130011E15Rik	UTSW	19	45921610	splice site	probably benign
R4044:9130011E15Rik	UTSW	19	45820324	missense	probably damaging	1.00
R4716:9130011E15Rik	UTSW	19	45960342	missense	probably damaging	1.00
R4974:9130011E15Rik	UTSW	19	45820287	missense	probably damaging	1.00
R4983:9130011E15Rik	UTSW	19	45950707	missense	probably benign
R5063:9130011E15Rik	UTSW	19	45885955	missense	possibly damaging	0.95
R5313:9130011E15Rik	UTSW	19	45818975	missense	probably damaging	1.00
R5782:9130011E15Rik	UTSW	19	45886027	missense	probably benign	0.08
R5985:9130011E15Rik	UTSW	19	45820324	missense	probably damaging	1.00
R6220:9130011E15Rik	UTSW	19	45846115	missense	possibly damaging	0.79
R6379:9130011E15Rik	UTSW	19	45921697	missense	possibly damaging	0.46
R6674:9130011E15Rik	UTSW	19	45974998	missense	probably benign	0.06
R6842:9130011E15Rik	UTSW	19	45818977	missense	probably benign	0.05
R6890:9130011E15Rik	UTSW	19	45960357	missense	probably damaging	1.00
R7034:9130011E15Rik	UTSW	19	45965249	missense	probably damaging	0.98
R7036:9130011E15Rik	UTSW	19	45965249	missense	probably damaging	0.98
R7305:9130011E15Rik	UTSW	19	45892121	missense	probably benign	0.35
R7762:9130011E15Rik	UTSW	19	45940443	critical splice donor site	probably null
R8021:9130011E15Rik	UTSW	19	45956741	critical splice acceptor site	probably null
R8366:9130011E15Rik	UTSW	19	45932354	missense	probably damaging	1.00
R9336:9130011E15Rik	UTSW	19	45956681	missense	probably damaging	1.00
X0060:9130011E15Rik	UTSW	19	45932393	missense	possibly damaging	0.95
Z1088:9130011E15Rik	UTSW	19	45818905	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCATGCTCTCTACGACTTGG -3'
(R):5'- GGAGAACCACCATCTCTAAATTGTC -3'

Sequencing Primer
(F):5'- CTCTCTACGACTTGGGGGATG -3'
(R):5'- ACCATCTCTAAATTGTCTGAGTTTTC -3'

Posted On

2019-10-07