Mutagenetix > Incidental Mutation

Incidental Mutation 'R7036:9130011E15Rik'

546737

Institutional Source

Beutler Lab

Gene Symbol

9130011E15Rik

Ensembl Gene

ENSMUSG00000039901

Gene Name

RIKEN cDNA 9130011E15 gene

Synonyms

MMRRC Submission

045012-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7036 (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 G at 45965249 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 195 (I195T)

Ref Sequence

ENSEMBL: ENSMUSP00000048454 (fasta)

Gene Model

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

AlphaFold

Q6PD19

Predicted Effect

probably damaging
Transcript: ENSMUST00000045396
AA Change: I195T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048454
Gene: ENSMUSG00000039901
AA Change: I195T

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: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,609,256 (GRCm38)		probably null	Het
9030624J02Rik	T	C	7: 118,773,092 (GRCm38)	S290P	probably damaging	Het
Ahnak2	A	G	12: 112,778,781 (GRCm38)		probably benign	Het
Akt2	T	C	7: 27,637,012 (GRCm38)		probably null	Het
Aldh1a7	A	T	19: 20,708,178 (GRCm38)	L336Q	possibly damaging	Het
Ank2	T	C	3: 126,946,392 (GRCm38)		probably benign	Het
Ank3	C	T	10: 69,999,379 (GRCm38)	T680M	probably damaging	Het
Apeh	T	C	9: 108,094,271 (GRCm38)	E59G	possibly damaging	Het
Arl8a	G	C	1: 135,154,468 (GRCm38)	E145Q	probably benign	Het
Armc8	C	T	9: 99,483,965 (GRCm38)		probably null	Het
Arsj	T	C	3: 126,365,000 (GRCm38)	L76P	probably damaging	Het
Atp2b1	C	T	10: 98,987,310 (GRCm38)	T244I	probably damaging	Het
Bcl6	A	T	16: 23,974,861 (GRCm38)	L112Q	probably damaging	Het
Bfsp1	T	A	2: 143,826,923 (GRCm38)	T579S	possibly damaging	Het
Btaf1	C	A	19: 37,004,469 (GRCm38)	T1633K	probably benign	Het
Cacng8	A	G	7: 3,415,303 (GRCm38)	S324G	probably benign	Het
Cd2ap	A	T	17: 42,798,599 (GRCm38)	L623Q	probably damaging	Het
Cerkl	T	C	2: 79,341,378 (GRCm38)	I379V	probably benign	Het
Cndp2	T	A	18: 84,669,945 (GRCm38)	H307L	possibly damaging	Het
Derl1	A	G	15: 57,879,047 (GRCm38)		probably null	Het
Dixdc1	T	A	9: 50,682,564 (GRCm38)	R254S	probably benign	Het
Dopey2	T	A	16: 93,777,490 (GRCm38)	D30E	probably benign	Het
Duox2	T	G	2: 122,280,453 (GRCm38)	H1513P	probably damaging	Het
Dyrk1a	G	A	16: 94,686,568 (GRCm38)	V546I	probably benign	Het
E130308A19Rik	A	C	4: 59,719,991 (GRCm38)	K508Q	probably damaging	Het
Emc8	A	T	8: 120,659,051 (GRCm38)	V108E	probably benign	Het
Epb41l1	A	G	2: 156,529,402 (GRCm38)	T720A	probably benign	Het
Fam126b	T	A	1: 58,535,537 (GRCm38)	M282L	probably benign	Het
Fam71b	G	A	11: 46,407,408 (GRCm38)	S513N		Het
Fcgr4	T	A	1: 171,020,088 (GRCm38)	M85K	probably benign	Het
Fem1b	T	A	9: 62,797,028 (GRCm38)	I317F	probably damaging	Het
Focad	A	G	4: 88,124,637 (GRCm38)	E36G	probably benign	Het
Fryl	C	T	5: 73,055,608 (GRCm38)	E2275K	probably benign	Het
Galnt11	T	C	5: 25,258,813 (GRCm38)	I361T	probably damaging	Het
Gatad2a	A	T	8: 69,917,994 (GRCm38)	N114K	probably damaging	Het
Gcnt2	CTAATG	C	13: 40,887,556 (GRCm38)		probably null	Het
Gm884	T	A	11: 103,615,812 (GRCm38)		probably benign	Het
Gramd1a	A	G	7: 31,132,756 (GRCm38)		probably null	Het
Gsn	T	A	2: 35,292,599 (GRCm38)	W187R	probably damaging	Het
Hoxc12	G	A	15: 102,938,360 (GRCm38)	G229D	probably damaging	Het
Ints14	T	C	9: 64,964,545 (GRCm38)	V55A	probably benign	Het
Itga9	T	C	9: 118,698,365 (GRCm38)	L528P	probably benign	Het
Klf1	C	T	8: 84,902,750 (GRCm38)	S68F	possibly damaging	Het
Kmt2e	A	G	5: 23,478,743 (GRCm38)	E333G	probably null	Het
Krt39	A	C	11: 99,521,236 (GRCm38)	V8G	probably benign	Het
Krt71	A	G	15: 101,738,337 (GRCm38)	I312T	probably benign	Het
Lrp1b	T	C	2: 41,112,342 (GRCm38)	D2001G	possibly damaging	Het
Lrrc71	T	C	3: 87,748,386 (GRCm38)	T27A	probably benign	Het
Lrrcc1	T	C	3: 14,563,009 (GRCm38)	V958A	possibly damaging	Het
Med15	A	T	16: 17,698,155 (GRCm38)	M1K	probably null	Het
Mrgpra3	G	T	7: 47,590,090 (GRCm38)	N29K	possibly damaging	Het
Myl1	T	C	1: 66,930,236 (GRCm38)	N79S	probably damaging	Het
Naip2	A	T	13: 100,155,021 (GRCm38)	D1136E	probably benign	Het
Nat10	T	C	2: 103,754,108 (GRCm38)	N108S	probably benign	Het
Ncald	A	T	15: 37,368,878 (GRCm38)	S178T	probably benign	Het
Ndufs2	T	C	1: 171,238,308 (GRCm38)	D256G	probably benign	Het
Nek5	T	C	8: 22,107,723 (GRCm38)	N280S	probably benign	Het
Olfr1167	T	A	2: 88,149,125 (GRCm38)	D298V	probably damaging	Het
Olfr995	A	G	2: 85,438,430 (GRCm38)	S243P	probably damaging	Het
Parp1	G	T	1: 180,598,252 (GRCm38)	K849N	possibly damaging	Het
Pcdhb4	T	A	18: 37,308,782 (GRCm38)	C382S	possibly damaging	Het
Plce1	A	G	19: 38,739,357 (GRCm38)	N1520S	probably damaging	Het
Plcg2	G	A	8: 117,596,306 (GRCm38)	R700H	probably benign	Het
Popdc2	A	T	16: 38,362,811 (GRCm38)	Y52F	probably damaging	Het
Prrx1	T	A	1: 163,248,338 (GRCm38)	M220L	probably benign	Het
Pspc1	A	C	14: 56,758,628 (GRCm38)		probably null	Het
Ptchd1	T	A	X: 155,574,712 (GRCm38)	Y499F	probably damaging	Het
Ptpn20	A	G	14: 33,614,435 (GRCm38)	*44W	probably null	Het
Qars	T	A	9: 108,514,777 (GRCm38)	V83E	probably damaging	Het
Rrh	T	C	3: 129,815,693 (GRCm38)	E55G	possibly damaging	Het
Sash1	C	A	10: 8,730,083 (GRCm38)	E848*	probably null	Het
Sds	A	T	5: 120,480,847 (GRCm38)	K125M	possibly damaging	Het
Serpinf2	A	T	11: 75,438,418 (GRCm38)		probably benign	Het
Sh2b2	G	A	5: 136,218,885 (GRCm38)	T604I	probably benign	Het
Smug1	A	G	15: 103,155,942 (GRCm38)	L184P	probably damaging	Het
Spatc1	A	G	15: 76,283,880 (GRCm38)	T180A	probably benign	Het
Ssr1	A	T	13: 37,994,025 (GRCm38)	L20Q	probably null	Het
Supt4a	A	G	11: 87,743,258 (GRCm38)	E100G	probably damaging	Het
Tbx1	G	T	16: 18,586,801 (GRCm38)	P38T	unknown	Het
Tcl1	T	C	12: 105,217,601 (GRCm38)		probably benign	Het
Teddm2	T	C	1: 153,850,574 (GRCm38)	I132V	probably benign	Het
Tmem131	C	T	1: 36,792,973 (GRCm38)	G1861E	possibly damaging	Het
Tpr	A	T	1: 150,423,607 (GRCm38)	H1186L	probably benign	Het
Trim34b	A	T	7: 104,329,536 (GRCm38)		probably benign	Het
Trpm2	T	C	10: 77,912,592 (GRCm38)	M1415V	probably benign	Het
Ttll12	A	G	15: 83,586,885 (GRCm38)	F264S	probably benign	Het
Vmn2r59	T	C	7: 42,046,220 (GRCm38)	E256G	probably benign	Het
Vmn2r93	A	T	17: 18,326,410 (GRCm38)	H848L	probably benign	Het
Wdr70	T	C	15: 7,884,374 (GRCm38)	D598G	possibly damaging	Het
Ybey	T	C	10: 76,468,363 (GRCm38)	S2G	possibly damaging	Het
Zfp346	A	T	13: 55,132,387 (GRCm38)	Q308L	probably benign	Het
Zfp872	C	T	9: 22,200,560 (GRCm38)	P445L	probably benign	Het

Other mutations in 9130011E15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:9130011E15Rik	APN	19	45,940,488 (GRCm38)	missense	probably benign	0.19
IGL00788:9130011E15Rik	APN	19	45,932,350 (GRCm38)	critical splice donor site	probably null
IGL01356:9130011E15Rik	APN	19	45,966,303 (GRCm38)	missense	possibly damaging	0.94
IGL01477:9130011E15Rik	APN	19	45,978,604 (GRCm38)	missense	probably damaging	0.99
IGL01660:9130011E15Rik	APN	19	45,940,476 (GRCm38)	missense	probably damaging	1.00
IGL02193:9130011E15Rik	APN	19	45,972,884 (GRCm38)	missense	probably benign	0.02
IGL02863:9130011E15Rik	APN	19	45,958,411 (GRCm38)	missense	probably damaging	1.00
IGL03108:9130011E15Rik	APN	19	45,820,353 (GRCm38)	missense	probably damaging	0.99
R0035:9130011E15Rik	UTSW	19	45,891,240 (GRCm38)	missense	probably damaging	1.00
R0791:9130011E15Rik	UTSW	19	45,933,868 (GRCm38)	splice site	probably null
R0792:9130011E15Rik	UTSW	19	45,933,868 (GRCm38)	splice site	probably null
R1487:9130011E15Rik	UTSW	19	45,940,443 (GRCm38)	critical splice donor site	probably null
R1843:9130011E15Rik	UTSW	19	45,975,252 (GRCm38)	missense	probably benign	0.17
R2061:9130011E15Rik	UTSW	19	45,978,667 (GRCm38)	missense	probably damaging	1.00
R2070:9130011E15Rik	UTSW	19	45,891,285 (GRCm38)	missense	probably damaging	1.00
R2072:9130011E15Rik	UTSW	19	45,965,381 (GRCm38)	missense	probably damaging	0.99
R2073:9130011E15Rik	UTSW	19	45,965,381 (GRCm38)	missense	probably damaging	0.99
R2074:9130011E15Rik	UTSW	19	45,965,381 (GRCm38)	missense	probably damaging	0.99
R2091:9130011E15Rik	UTSW	19	45,952,680 (GRCm38)	missense	probably damaging	1.00
R2263:9130011E15Rik	UTSW	19	45,932,349 (GRCm38)	critical splice donor site	probably null
R2863:9130011E15Rik	UTSW	19	45,885,957 (GRCm38)	missense	probably damaging	1.00
R3236:9130011E15Rik	UTSW	19	45,975,283 (GRCm38)	splice site	probably benign
R3796:9130011E15Rik	UTSW	19	45,921,610 (GRCm38)	splice site	probably benign
R4044:9130011E15Rik	UTSW	19	45,820,324 (GRCm38)	missense	probably damaging	1.00
R4716:9130011E15Rik	UTSW	19	45,960,342 (GRCm38)	missense	probably damaging	1.00
R4974:9130011E15Rik	UTSW	19	45,820,287 (GRCm38)	missense	probably damaging	1.00
R4983:9130011E15Rik	UTSW	19	45,950,707 (GRCm38)	missense	probably benign
R5063:9130011E15Rik	UTSW	19	45,885,955 (GRCm38)	missense	possibly damaging	0.95
R5313:9130011E15Rik	UTSW	19	45,818,975 (GRCm38)	missense	probably damaging	1.00
R5782:9130011E15Rik	UTSW	19	45,886,027 (GRCm38)	missense	probably benign	0.08
R5985:9130011E15Rik	UTSW	19	45,820,324 (GRCm38)	missense	probably damaging	1.00
R6220:9130011E15Rik	UTSW	19	45,846,115 (GRCm38)	missense	possibly damaging	0.79
R6379:9130011E15Rik	UTSW	19	45,921,697 (GRCm38)	missense	possibly damaging	0.46
R6674:9130011E15Rik	UTSW	19	45,974,998 (GRCm38)	missense	probably benign	0.06
R6842:9130011E15Rik	UTSW	19	45,818,977 (GRCm38)	missense	probably benign	0.05
R6890:9130011E15Rik	UTSW	19	45,960,357 (GRCm38)	missense	probably damaging	1.00
R7034:9130011E15Rik	UTSW	19	45,965,249 (GRCm38)	missense	probably damaging	0.98
R7305:9130011E15Rik	UTSW	19	45,892,121 (GRCm38)	missense	probably benign	0.35
R7411:9130011E15Rik	UTSW	19	45,965,435 (GRCm38)	missense	probably benign	0.00
R7762:9130011E15Rik	UTSW	19	45,940,443 (GRCm38)	critical splice donor site	probably null
R8021:9130011E15Rik	UTSW	19	45,956,741 (GRCm38)	critical splice acceptor site	probably null
R8366:9130011E15Rik	UTSW	19	45,932,354 (GRCm38)	missense	probably damaging	1.00
R9336:9130011E15Rik	UTSW	19	45,956,681 (GRCm38)	missense	probably damaging	1.00
X0060:9130011E15Rik	UTSW	19	45,932,393 (GRCm38)	missense	possibly damaging	0.95
Z1088:9130011E15Rik	UTSW	19	45,818,905 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGTCTCCCACATTAAGCGATC -3'
(R):5'- GTTGTGTGCCTTTTACAGACC -3'

Sequencing Primer
(F):5'- CTTTTAGAAATGGCCGAGTCCAGC -3'
(R):5'- GTGCCTTTTACAGACCTTCAAAAGC -3'

Posted On

2019-05-13