Mutagenetix > Incidental Mutation

Incidental Mutation 'R9293:1110002E22Rik'

704380

Institutional Source

Beutler Lab

Gene Symbol

1110002E22Rik

Ensembl Gene

ENSMUSG00000090066

Gene Name

RIKEN cDNA 1110002E22 gene

Synonyms

MMRRC Submission

068991-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.544) question?

Stock #

R9293 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

138065052-138081506 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138066078 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 343 (S343P)

Ref Sequence

ENSEMBL: ENSMUSP00000123851 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000053318

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163080
AA Change: S343P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: S343P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

95% (54/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007G11Rik	C	T	5: 98,498,303	A86V	probably benign	Het
4930563M21Rik	T	A	9: 56,009,284	E36D	unknown	Het
Abcc8	T	G	7: 46,106,668	K1450T	probably benign	Het
Aox2	A	T	1: 58,322,794	N720Y	possibly damaging	Het
AW549877	T	C	15: 3,991,854	D73G	probably damaging	Het
BC034090	T	C	1: 155,225,772	T249A	probably benign	Het
Brf2	A	T	8: 27,123,993	S388R	probably damaging	Het
Ccdc180	A	T	4: 45,944,461	Q1437L	probably damaging	Het
Cdc42ep1	A	C	15: 78,849,825	D375A	probably benign	Het
Cep85l	T	C	10: 53,298,186	Y487C	probably damaging	Het
Chd3	C	T	11: 69,353,201	R1346H	possibly damaging	Het
Cltc	T	A	11: 86,712,620	R793S	possibly damaging	Het
Crat	A	G	2: 30,408,202	F162L	probably benign	Het
Cyp3a44	C	A	5: 145,774,377	V495L	probably benign	Het
Dchs2	C	T	3: 83,282,054	T1575I	possibly damaging	Het
Ddx60	A	G	8: 62,009,960	T1292A	possibly damaging	Het
Dnah12	C	T	14: 26,773,059	A109V	probably benign	Het
Foxo3	C	T	10: 42,197,025	V499M	probably damaging	Het
Fry	T	C	5: 150,495,832	S546P		Het
Hfe	T	C	13: 23,706,809	K204E	probably benign	Het
Hibch	T	A	1: 52,913,827	Y329N	probably damaging	Het
Irf9	T	G	14: 55,608,790	I426S	probably damaging	Het
Kif26a	C	A	12: 112,146,401	P13T	probably damaging	Het
Lhx5	A	C	5: 120,432,386	K36Q	probably benign	Het
Mdn1	T	C	4: 32,707,579	S1623P	probably damaging	Het
Mre11a	T	C	9: 14,799,588	F193L	probably damaging	Het
Mybl2	G	A	2: 163,068,215	G187E	probably damaging	Het
Myh1	A	T	11: 67,209,103	Q613L	probably benign	Het
Myo5a	T	A	9: 75,180,030	M1056K	probably benign	Het
Olfr1	T	C	11: 73,395,129	K298E	probably damaging	Het
Olfr1197	G	A	2: 88,729,455	T48I	probably benign	Het
Olfr610	C	T	7: 103,506,520	R142H	probably benign	Het
Olfr918	T	C	9: 38,673,118	I109V	probably damaging	Het
Pcdhga12	G	A	18: 37,767,887	V591M	probably damaging	Het
Phyhipl	A	G	10: 70,565,286	S161P	probably damaging	Het
Pmfbp1	A	G	8: 109,536,573	T775A	probably benign	Het
Pou3f3	T	C	1: 42,697,522	V126A	unknown	Het
Reg4	A	C	3: 98,236,315	K142Q	possibly damaging	Het
Sec22c	G	T	9: 121,688,248	A199E	probably damaging	Het
Sema3d	C	T	5: 12,553,214	P395S	probably damaging	Het
Sh2b2	C	T	5: 136,232,039	E108K	possibly damaging	Het
Slfn3	A	G	11: 83,214,790	K538E	possibly damaging	Het
Spatc1l	A	T	10: 76,569,366	D194V	probably damaging	Het
Stoml3	T	C	3: 53,500,764	V77A	possibly damaging	Het
Taco1	A	G	11: 106,073,104	I230V	probably benign	Het
Tfcp2	T	C	15: 100,514,053	T346A	probably benign	Het
Tmem8b	C	T	4: 43,686,188	T273M	probably damaging	Het
Trav6-1	A	G	14: 52,638,842	N73S	probably benign	Het
Trav6d-5	A	G	14: 52,795,603	D103G	probably damaging	Het
Ttll5	T	A	12: 85,891,032	L379Q	probably damaging	Het
Ube3c	T	A	5: 29,598,848		probably benign	Het
Ubr3	A	C	2: 69,897,425	D44A	probably benign	Het
Upp2	G	T	2: 58,567,431	R5L	unknown	Het
Vmn1r43	G	A	6: 89,869,895	T203M	probably damaging	Het
Vmn2r17	C	T	5: 109,452,846	T670I	probably damaging	Het
Zfp433	A	T	10: 81,720,288	H208L	probably damaging	Het
Zfp616	A	T	11: 74,083,918	I429F	possibly 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
R0591:1110002E22Rik	UTSW	3	138068943	nonsense	probably null
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
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'- TGCAGAAGACAATGGCCTTTC -3'
(R):5'- GGTCTCATCACTGCCACCAAAG -3'

Sequencing Primer
(F):5'- TGGACGATCCCACCAAGTTACTG -3'
(R):5'- GCCACCAAAGGAAGCGTAGTC -3'

Posted On

2022-03-25