Mutagenetix > Incidental Mutation

Incidental Mutation 'R7916:E130308A19Rik'

648067

Institutional Source

Beutler Lab

Gene Symbol

E130308A19Rik

Ensembl Gene

ENSMUSG00000045071

Gene Name

RIKEN cDNA E130308A19 gene

Synonyms

MMRRC Submission

045964-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.221) question?

Stock #

R7916 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59626116-59757649 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59719841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 458 (S458P)

Ref Sequence

ENSEMBL: ENSMUSP00000062493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052420] [ENSMUST00000070150]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000052420
AA Change: S458P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000062493
Gene: ENSMUSG00000045071
AA Change: S458P

Domain	Start	End	E-Value	Type
low complexity region	130	141	N/A	INTRINSIC
low complexity region	364	387	N/A	INTRINSIC
Pfam:DUF3504	520	673	2.2e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000070150

SMART Domains

Protein: ENSMUSP00000065702
Gene: ENSMUSG00000045071

Domain	Start	End	E-Value	Type
low complexity region	130	141	N/A	INTRINSIC
low complexity region	364	387	N/A	INTRINSIC
low complexity region	496	507	N/A	INTRINSIC
Pfam:DUF3504	532	687	4.5e-40	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,682,454 (GRCm39)	L195*	probably null	Het
Ahnak	T	G	19: 8,983,196 (GRCm39)	D1493E	possibly damaging	Het
Alox12e	C	A	11: 70,212,111 (GRCm39)	R162L	probably benign	Het
Bax	T	G	7: 45,115,539 (GRCm39)	Q32P	probably benign	Het
Cand1	A	G	10: 119,052,493 (GRCm39)	M204T	probably benign	Het
Chd9	T	A	8: 91,761,684 (GRCm39)	Y2256*	probably null	Het
Chuk	A	G	19: 44,085,420 (GRCm39)	I242T	probably damaging	Het
Cic	T	C	7: 24,987,715 (GRCm39)	S1468P	probably damaging	Het
Col27a1	A	G	4: 63,142,789 (GRCm39)	H159R	probably damaging	Het
Cux1	T	C	5: 136,311,815 (GRCm39)	K1174E	probably damaging	Het
Dnah2	C	A	11: 69,311,974 (GRCm39)		probably null	Het
Dpp3	C	A	19: 4,967,052 (GRCm39)	E351*	probably null	Het
Dyrk1a	A	G	16: 94,474,200 (GRCm39)	Y319C	probably damaging	Het
Ehmt1	G	A	2: 24,746,708 (GRCm39)	L425F	probably damaging	Het
Emp2	C	A	16: 10,102,437 (GRCm39)	R125L	possibly damaging	Het
Farsb	A	G	1: 78,435,200 (GRCm39)		probably null	Het
Frk	A	T	10: 34,360,021 (GRCm39)	R7S	possibly damaging	Het
Glb1l2	T	C	9: 26,678,720 (GRCm39)	T483A	probably benign	Het
Gm5773	T	C	3: 93,680,586 (GRCm39)	V86A	possibly damaging	Het
Gm7324	T	G	14: 43,952,003 (GRCm39)	D215E	probably benign	Het
Gng13	A	T	17: 25,937,932 (GRCm39)	K44*	probably null	Het
Gprin1	C	T	13: 54,887,263 (GRCm39)	G337D	possibly damaging	Het
Ighv1-84	G	T	12: 115,944,609 (GRCm39)	Q22K	probably benign	Het
Il20rb	T	C	9: 100,348,304 (GRCm39)	H210R	probably benign	Het
Iqcm	C	T	8: 76,304,578 (GRCm39)	S113L	probably benign	Het
Kat6b	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	14: 21,712,417 (GRCm39)		probably benign	Het
Kmo	G	T	1: 175,487,236 (GRCm39)	G430W	probably damaging	Het
Kti12	A	C	4: 108,705,443 (GRCm39)	E119A	probably benign	Het
Kti12	G	T	4: 108,705,444 (GRCm39)	E119D	probably benign	Het
Ldhd	T	G	8: 112,356,023 (GRCm39)	D120A	possibly damaging	Het
Lyst	T	C	13: 13,821,657 (GRCm39)	S1344P	possibly damaging	Het
Mb	T	A	15: 76,900,257 (GRCm39)	I112F	probably damaging	Het
Mbd5	G	A	2: 49,147,118 (GRCm39)	V443M	probably damaging	Het
Milr1	A	G	11: 106,654,688 (GRCm39)	K180R	possibly damaging	Het
Mst1r	T	C	9: 107,784,777 (GRCm39)	F145S	probably damaging	Het
Mthfd2	A	T	6: 83,286,455 (GRCm39)	I251K	possibly damaging	Het
Nfx1	T	A	4: 40,977,142 (GRCm39)	M272K	probably benign	Het
Nlrp3	A	G	11: 59,442,689 (GRCm39)	D747G	probably benign	Het
Odr4	C	T	1: 150,260,249 (GRCm39)	R123K	probably benign	Het
Or2y1	A	T	11: 49,385,543 (GRCm39)	Y61F	probably benign	Het
Or5p60	C	A	7: 107,724,329 (GRCm39)	S47I	possibly damaging	Het
Or8k18	A	T	2: 86,085,202 (GRCm39)	Y278*	probably null	Het
Pcdha11	A	G	18: 37,140,441 (GRCm39)	E690G	probably benign	Het
Pcdhga4	T	A	18: 37,818,502 (GRCm39)	I17N	probably benign	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm39)		probably benign	Het
Phf20	A	G	2: 156,129,858 (GRCm39)	K477E	probably damaging	Het
Pik3c2b	T	A	1: 133,028,642 (GRCm39)	I1377N	probably benign	Het
Polr3h	T	C	15: 81,806,613 (GRCm39)	K69E	probably benign	Het
Rpgrip1	A	G	14: 52,368,641 (GRCm39)	H280R	possibly damaging	Het
Rpp40	C	A	13: 36,086,034 (GRCm39)	R132L	probably benign	Het
Ryr1	G	A	7: 28,790,364 (GRCm39)	Q1488*	probably null	Het
Sh3bp1	A	G	15: 78,791,421 (GRCm39)	M403V	probably benign	Het
Slc20a1	G	A	2: 129,049,757 (GRCm39)	D340N	probably benign	Het
Snrnp200	T	A	2: 127,074,979 (GRCm39)	N1517K	possibly damaging	Het
Srek1ip1	T	A	13: 104,973,981 (GRCm39)	H129Q	possibly damaging	Het
Thumpd2	A	T	17: 81,334,116 (GRCm39)	C491S	probably benign	Het
Tle3	A	T	9: 61,314,410 (GRCm39)	N204I	probably benign	Het
Tmem131	A	G	1: 36,862,167 (GRCm39)	V677A	probably benign	Het
Topaz1	T	G	9: 122,576,499 (GRCm39)	L30R	probably benign	Het
Trim35	T	A	14: 66,546,309 (GRCm39)	C359S	probably damaging	Het
Ttn	A	C	2: 76,774,865 (GRCm39)	V2105G	unknown	Het
Ube2o	A	G	11: 116,471,884 (GRCm39)	V119A	probably benign	Het
Ubr2	A	T	17: 47,279,308 (GRCm39)		probably null	Het
Uhmk1	A	G	1: 170,032,757 (GRCm39)	V347A	possibly damaging	Het
Utp4	C	T	8: 107,649,497 (GRCm39)	P649S	probably damaging	Het
Vmn2r28	G	A	7: 5,483,818 (GRCm39)	T794I	probably damaging	Het
Vmn2r61	T	G	7: 41,949,935 (GRCm39)	F785C	probably damaging	Het
Xpot	C	A	10: 121,458,848 (GRCm39)		probably benign	Het
Zfp729a	C	T	13: 67,768,294 (GRCm39)	R645H	probably benign	Het

Other mutations in E130308A19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00660:E130308A19Rik	APN	4	59,737,743 (GRCm39)	splice site	probably benign
IGL00672:E130308A19Rik	APN	4	59,719,697 (GRCm39)	missense	probably benign	0.00
IGL00937:E130308A19Rik	APN	4	59,690,846 (GRCm39)	missense	probably benign	0.01
IGL01885:E130308A19Rik	APN	4	59,720,004 (GRCm39)	missense	probably benign	0.20
IGL02638:E130308A19Rik	APN	4	59,719,676 (GRCm39)	nonsense	probably null
H8562:E130308A19Rik	UTSW	4	59,691,033 (GRCm39)	missense	possibly damaging	0.70
R0044:E130308A19Rik	UTSW	4	59,690,290 (GRCm39)	missense	possibly damaging	0.86
R0523:E130308A19Rik	UTSW	4	59,719,716 (GRCm39)	missense	probably damaging	0.98
R0788:E130308A19Rik	UTSW	4	59,719,847 (GRCm39)	missense	possibly damaging	0.76
R1215:E130308A19Rik	UTSW	4	59,690,743 (GRCm39)	missense	probably benign	0.37
R1490:E130308A19Rik	UTSW	4	59,719,746 (GRCm39)	missense	probably damaging	0.99
R2292:E130308A19Rik	UTSW	4	59,690,579 (GRCm39)	missense	probably damaging	0.99
R3907:E130308A19Rik	UTSW	4	59,752,393 (GRCm39)	missense	probably benign	0.14
R4288:E130308A19Rik	UTSW	4	59,690,308 (GRCm39)	missense	probably benign	0.33
R4780:E130308A19Rik	UTSW	4	59,691,057 (GRCm39)	missense	probably benign	0.01
R4781:E130308A19Rik	UTSW	4	59,691,057 (GRCm39)	missense	probably benign	0.01
R4834:E130308A19Rik	UTSW	4	59,690,317 (GRCm39)	nonsense	probably null
R4985:E130308A19Rik	UTSW	4	59,691,017 (GRCm39)	missense	probably benign	0.01
R6123:E130308A19Rik	UTSW	4	59,737,565 (GRCm39)	missense	probably damaging	1.00
R6290:E130308A19Rik	UTSW	4	59,691,332 (GRCm39)	missense	probably benign	0.25
R6315:E130308A19Rik	UTSW	4	59,691,132 (GRCm39)	missense	probably benign
R6643:E130308A19Rik	UTSW	4	59,720,561 (GRCm39)	missense	possibly damaging	0.90
R6763:E130308A19Rik	UTSW	4	59,752,288 (GRCm39)	missense	probably damaging	0.99
R6980:E130308A19Rik	UTSW	4	59,719,991 (GRCm39)	missense	probably damaging	0.97
R7036:E130308A19Rik	UTSW	4	59,719,991 (GRCm39)	missense	probably damaging	0.97
R7078:E130308A19Rik	UTSW	4	59,737,688 (GRCm39)	missense	probably damaging	1.00
R7098:E130308A19Rik	UTSW	4	59,753,004 (GRCm39)	missense	possibly damaging	0.88
R7171:E130308A19Rik	UTSW	4	59,690,333 (GRCm39)	missense	probably damaging	1.00
R7247:E130308A19Rik	UTSW	4	59,690,502 (GRCm39)	missense	probably damaging	1.00
R7366:E130308A19Rik	UTSW	4	59,752,770 (GRCm39)	missense	probably damaging	0.99
R8050:E130308A19Rik	UTSW	4	59,719,767 (GRCm39)	missense	probably damaging	1.00
R8445:E130308A19Rik	UTSW	4	59,720,526 (GRCm39)	missense	probably damaging	0.99
R8795:E130308A19Rik	UTSW	4	59,737,676 (GRCm39)	missense	possibly damaging	0.93
R9088:E130308A19Rik	UTSW	4	59,737,594 (GRCm39)	missense	probably benign	0.16
R9663:E130308A19Rik	UTSW	4	59,719,764 (GRCm39)	missense	possibly damaging	0.87
Z1176:E130308A19Rik	UTSW	4	59,720,313 (GRCm39)	missense	probably damaging	1.00
Z1177:E130308A19Rik	UTSW	4	59,720,223 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CGTTTGTTGCAGACCAGGATG -3'
(R):5'- AAGGTGAGCTTCATGGACTTG -3'

Sequencing Primer
(F):5'- TTTGTTGCAGACCAGGATGAAAGAG -3'
(R):5'- AGCTTCATGGACTTGTGTGGC -3'

Posted On

2020-09-15