Mutagenetix > Incidental Mutation

Incidental Mutation 'R0591:1110002E22Rik'

55965

Institutional Source

Beutler Lab

Gene Symbol

1110002E22Rik

Ensembl Gene

ENSMUSG00000090066

Gene Name

RIKEN cDNA 1110002E22 gene

Synonyms

MMRRC Submission

038781-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.544) question?

Stock #

R0591 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138065052-138081506 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 138068943 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 1298 (E1298*)

Ref Sequence

ENSEMBL: ENSMUSP00000123851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053318] [ENSMUST00000163080]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000053318

Predicted Effect

probably null
Transcript: ENSMUST00000163080
AA Change: E1298*

SMART Domains

Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: E1298*

Domain	Start	End	E-Value	Type
low complexity region	44	55	N/A	INTRINSIC
low complexity region	87	102	N/A	INTRINSIC
low complexity region	229	247	N/A	INTRINSIC
low complexity region	422	438	N/A	INTRINSIC
low complexity region	459	505	N/A	INTRINSIC
low complexity region	667	680	N/A	INTRINSIC
low complexity region	937	948	N/A	INTRINSIC
low complexity region	995	1007	N/A	INTRINSIC
low complexity region	1105	1115	N/A	INTRINSIC
low complexity region	1224	1242	N/A	INTRINSIC
low complexity region	1376	1385	N/A	INTRINSIC
Pfam:DUF4585	1598	1667	6.9e-32	PFAM
low complexity region	1723	1738	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184925

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.7%
3x: 99.2%
10x: 97.7%
20x: 95.3%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	C	11: 46,121,411		probably benign	Het
Agt	A	T	8: 124,556,939	S480R	possibly damaging	Het
Anapc1	G	T	2: 128,619,332	D1769E	probably benign	Het
Aox4	T	C	1: 58,239,102		probably benign	Het
Apol9b	G	A	15: 77,735,630	V209I	possibly damaging	Het
Appl2	A	T	10: 83,624,645	I116K	possibly damaging	Het
B230118H07Rik	A	T	2: 101,576,117	D155E	probably benign	Het
BC051665	A	G	13: 60,784,608		probably benign	Het
Cactin	G	T	10: 81,324,003	E89*	probably null	Het
Carf	G	T	1: 60,125,914		probably benign	Het
Ccdc167	A	G	17: 29,705,261		probably benign	Het
Ceacam3	G	A	7: 17,151,883		probably null	Het
Clca4b	T	A	3: 144,915,592	K574*	probably null	Het
Crabp1	T	A	9: 54,765,603	I64N	probably damaging	Het
Dgkd	T	A	1: 87,915,104	I118N	probably damaging	Het
Dglucy	T	C	12: 100,859,518		probably benign	Het
Dock10	C	T	1: 80,541,219		probably benign	Het
Ednrb	A	T	14: 103,823,274		probably null	Het
Ercc6	T	C	14: 32,558,016		probably benign	Het
Gm5538	C	A	3: 59,752,129	Y334*	probably null	Het
Golga3	A	C	5: 110,188,743	Q416P	probably damaging	Het
Gpr12	A	G	5: 146,583,635	V159A	probably benign	Het
Heatr5a	A	T	12: 51,910,101		probably benign	Het
Helz2	A	G	2: 181,232,116	I2195T	probably damaging	Het
Hikeshi	A	T	7: 89,920,087	N76K	possibly damaging	Het
Hsd11b1	T	C	1: 193,229,676		probably benign	Het
Inhba	A	T	13: 16,026,820	K322N	probably damaging	Het
Katnal1	A	T	5: 148,892,516	F291L	probably damaging	Het
Kcnj9	T	C	1: 172,323,098	E316G	probably damaging	Het
Lrsam1	A	G	2: 32,933,923		probably benign	Het
Mcf2l	T	G	8: 13,018,751	S1075A	probably benign	Het
Mios	T	C	6: 8,215,470	V222A	possibly damaging	Het
Mycbp2	A	T	14: 103,196,391		probably benign	Het
Nars	A	T	18: 64,500,567	I544N	probably damaging	Het
Olfr993	A	G	2: 85,414,690	L63P	possibly damaging	Het
Pbrm1	A	G	14: 31,046,430		probably benign	Het
Plcb4	A	G	2: 135,955,012		probably benign	Het
Pnliprp1	A	G	19: 58,734,706	D213G	probably damaging	Het
Psap	A	G	10: 60,300,855	N538D	possibly damaging	Het
Ptdss1	A	G	13: 66,972,650		probably benign	Het
Rap1b	G	A	10: 117,818,617		probably benign	Het
Rhcg	T	A	7: 79,594,772		probably benign	Het
Ryr1	G	A	7: 29,104,795	T550I	possibly damaging	Het
Samm50	G	A	15: 84,211,168	G452R	probably benign	Het
Scin	A	G	12: 40,080,930		probably null	Het
Sesn3	T	C	9: 14,308,558	L81S	probably damaging	Het
Skint6	A	C	4: 112,858,169		probably benign	Het
Slc30a4	A	T	2: 122,685,240	L411H	probably damaging	Het
Slc44a5	C	T	3: 154,234,145		probably benign	Het
Slc4a3	C	T	1: 75,549,021	A255V	probably damaging	Het
Slc9b1	A	G	3: 135,382,832	N318S	possibly damaging	Het
Tcp11l2	A	T	10: 84,604,594	H287L	probably benign	Het
Tex10	C	T	4: 48,456,800	R637Q	probably benign	Het
Tnks2	T	A	19: 36,872,562	Y605N	probably damaging	Het
Topbp1	T	A	9: 103,349,838	N1490K	probably benign	Het
Ube4b	T	G	4: 149,357,577		probably benign	Het
Usp4	G	A	9: 108,348,029		probably benign	Het
Vezf1	A	T	11: 88,068,435		probably benign	Het
Vmn1r184	A	T	7: 26,267,075	D82V	probably damaging	Het

Other mutations in 1110002E22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0026:1110002E22Rik	UTSW	3	138066805	missense	possibly damaging	0.95
R0047:1110002E22Rik	UTSW	3	138066264	missense	probably damaging	0.97
R0047:1110002E22Rik	UTSW	3	138066264	missense	probably damaging	0.97
R0102:1110002E22Rik	UTSW	3	138068113	missense	probably damaging	1.00
R0102:1110002E22Rik	UTSW	3	138068113	missense	probably damaging	1.00
R0197:1110002E22Rik	UTSW	3	138069871	missense	probably damaging	1.00
R0239:1110002E22Rik	UTSW	3	138065834	small deletion	probably benign
R0394:1110002E22Rik	UTSW	3	138067304	missense	probably damaging	0.99
R0401:1110002E22Rik	UTSW	3	138070306	missense	possibly damaging	0.73
R0496:1110002E22Rik	UTSW	3	138068244	missense	probably damaging	1.00
R0711:1110002E22Rik	UTSW	3	138068225	missense	probably damaging	0.99
R0883:1110002E22Rik	UTSW	3	138069871	missense	probably damaging	1.00
R0908:1110002E22Rik	UTSW	3	138070077	missense	probably damaging	0.99
R0968:1110002E22Rik	UTSW	3	138067206	missense	probably damaging	0.99
R1023:1110002E22Rik	UTSW	3	138066871	missense	probably damaging	1.00
R1168:1110002E22Rik	UTSW	3	138067900	missense	probably benign	0.20
R1472:1110002E22Rik	UTSW	3	138067552	missense	possibly damaging	0.95
R1538:1110002E22Rik	UTSW	3	138065401	missense	probably benign	0.02
R1648:1110002E22Rik	UTSW	3	138069420	missense	probably benign	0.18
R1800:1110002E22Rik	UTSW	3	138066718	missense	probably damaging	1.00
R1919:1110002E22Rik	UTSW	3	138067270	missense	probably damaging	0.99
R1974:1110002E22Rik	UTSW	3	138067267	missense	probably damaging	1.00
R1990:1110002E22Rik	UTSW	3	138065658	nonsense	probably null
R1991:1110002E22Rik	UTSW	3	138065658	nonsense	probably null
R2102:1110002E22Rik	UTSW	3	138065173	missense	probably damaging	0.99
R2761:1110002E22Rik	UTSW	3	138067780	missense	probably damaging	0.99
R2899:1110002E22Rik	UTSW	3	138065682	missense	probably benign	0.00
R3618:1110002E22Rik	UTSW	3	138068407	missense	probably damaging	1.00
R3904:1110002E22Rik	UTSW	3	138066639	missense	probably benign	0.15
R3955:1110002E22Rik	UTSW	3	138068073	missense	probably benign	0.00
R4520:1110002E22Rik	UTSW	3	138070266	missense	probably damaging	0.99
R4619:1110002E22Rik	UTSW	3	138069759	missense	probably damaging	0.99
R4736:1110002E22Rik	UTSW	3	138068485	missense	probably damaging	0.99
R4752:1110002E22Rik	UTSW	3	138069990	missense	possibly damaging	0.91
R4777:1110002E22Rik	UTSW	3	138065742	missense	probably benign	0.09
R4780:1110002E22Rik	UTSW	3	138065370	missense	probably benign	0.02
R4824:1110002E22Rik	UTSW	3	138065676	missense	probably benign	0.00
R4829:1110002E22Rik	UTSW	3	138069019	missense	probably damaging	0.99
R4965:1110002E22Rik	UTSW	3	138069672	missense	probably benign
R5206:1110002E22Rik	UTSW	3	138066511	missense	probably benign	0.00
R5212:1110002E22Rik	UTSW	3	138065850	missense	possibly damaging	0.85
R5373:1110002E22Rik	UTSW	3	138067635	missense	probably benign
R5374:1110002E22Rik	UTSW	3	138067635	missense	probably benign
R5506:1110002E22Rik	UTSW	3	138067947	missense	probably damaging	1.00
R5528:1110002E22Rik	UTSW	3	138066499	missense	probably benign
R5536:1110002E22Rik	UTSW	3	138066388	missense	possibly damaging	0.89
R5587:1110002E22Rik	UTSW	3	138065409	missense	probably benign
R5759:1110002E22Rik	UTSW	3	138068658	missense	probably benign
R5933:1110002E22Rik	UTSW	3	138070348	missense	probably damaging	1.00
R5957:1110002E22Rik	UTSW	3	138070161	missense	probably benign
R6092:1110002E22Rik	UTSW	3	138068940	missense	probably benign	0.02
R6305:1110002E22Rik	UTSW	3	138067980	missense	probably damaging	1.00
R6457:1110002E22Rik	UTSW	3	138066622	missense	probably damaging	1.00
R6469:1110002E22Rik	UTSW	3	138066975	missense	probably damaging	0.97
R6499:1110002E22Rik	UTSW	3	138068800	missense	probably damaging	1.00
R6527:1110002E22Rik	UTSW	3	138067527	missense	probably damaging	0.99
R6580:1110002E22Rik	UTSW	3	138066625	missense	probably benign	0.00
R6693:1110002E22Rik	UTSW	3	138069154	missense	probably benign	0.00
R6751:1110002E22Rik	UTSW	3	138066210	missense	probably damaging	1.00
R6852:1110002E22Rik	UTSW	3	138065169	nonsense	probably null
R6920:1110002E22Rik	UTSW	3	138068050	missense	probably damaging	1.00
R7001:1110002E22Rik	UTSW	3	138065511	missense	probably benign
R7145:1110002E22Rik	UTSW	3	138070059	missense	probably damaging	1.00
R7238:1110002E22Rik	UTSW	3	138069951	missense	probably damaging	1.00
R7278:1110002E22Rik	UTSW	3	138065476	missense	probably benign
R7425:1110002E22Rik	UTSW	3	138065695	missense	probably benign	0.00
R7487:1110002E22Rik	UTSW	3	138066868	missense	probably damaging	1.00
R7557:1110002E22Rik	UTSW	3	138068283	nonsense	probably null
R7663:1110002E22Rik	UTSW	3	138066126	missense	probably damaging	0.98
R7743:1110002E22Rik	UTSW	3	138068755	missense	probably damaging	1.00
R7799:1110002E22Rik	UTSW	3	138069601	missense	probably benign	0.33
R8181:1110002E22Rik	UTSW	3	138068395	missense	probably damaging	0.99
R8264:1110002E22Rik	UTSW	3	138067782	missense	probably damaging	0.99
R8273:1110002E22Rik	UTSW	3	138066450	missense	probably benign
R8434:1110002E22Rik	UTSW	3	138067260	missense	probably damaging	0.97
R8530:1110002E22Rik	UTSW	3	138068825	missense	probably damaging	0.99
R8754:1110002E22Rik	UTSW	3	138066037	missense	probably benign
R8808:1110002E22Rik	UTSW	3	138070113	missense	probably benign	0.01
R8891:1110002E22Rik	UTSW	3	138066759	nonsense	probably null
R9026:1110002E22Rik	UTSW	3	138065148	missense	possibly damaging	0.53
R9177:1110002E22Rik	UTSW	3	138069916	missense	probably damaging	1.00
R9250:1110002E22Rik	UTSW	3	138066628	missense	probably damaging	1.00
R9291:1110002E22Rik	UTSW	3	138066703	missense	probably benign	0.02
R9293:1110002E22Rik	UTSW	3	138066078	missense	possibly damaging	0.93
R9307:1110002E22Rik	UTSW	3	138065422	missense	probably benign	0.04
R9439:1110002E22Rik	UTSW	3	138066287	missense	probably benign	0.00
R9509:1110002E22Rik	UTSW	3	138065834	small deletion	probably benign
R9582:1110002E22Rik	UTSW	3	138067005	missense	probably damaging	0.99
R9599:1110002E22Rik	UTSW	3	138068506	missense	probably benign	0.16
R9613:1110002E22Rik	UTSW	3	138065365	missense	probably damaging	0.98
R9670:1110002E22Rik	UTSW	3	138065133	missense	probably benign
X0003:1110002E22Rik	UTSW	3	138069096	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGATTGTCTCCAAAGCGTCTGCTC -3'
(R):5'- GCTGCAAAGGTTGTGTTCTTTCCAC -3'

Sequencing Primer
(F):5'- CAAAGCGTCTGCTCAGAGG -3'
(R):5'- CCACATCTTTGTGGACTGGAG -3'

Posted On

2013-07-11