Mutagenetix > Incidental Mutations

Incidental Mutation 'R9250:1110002E22Rik'

701472

Institutional Source

Beutler Lab

Gene Symbol

1110002E22Rik

Ensembl Gene

ENSMUSG00000090066

Gene Name

RIKEN cDNA 1110002E22 gene

Synonyms

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.680) question?

Stock #

R9250 (G1)

Quality Score

152.008

Status

Not validated

Chromosome

Chromosomal Location

138065052-138081506 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 138066628 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glycine at position 526 (A526G)

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

probably damaging
Transcript: ENSMUST00000163080
AA Change: A526G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: A526G

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: 99.5%
20x: 98.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430531B16Rik	C	A	7: 139,976,482	K197N	probably benign	Het
Ablim3	A	G	18: 61,811,430	L526P	probably damaging	Het
Aknad1	T	C	3: 108,756,827	S369P	probably damaging	Het
Aldh8a1	T	C	10: 21,382,360	S119P	probably damaging	Het
BC005561	A	G	5: 104,519,454	Y614C	probably benign	Het
Brpf3	T	C	17: 28,835,814	I1110T	probably damaging	Het
Cdk12	T	C	11: 98,210,572	S419P	probably benign	Het
Cmklr1	G	C	5: 113,613,982	H319Q	probably benign	Het
Crim1	C	T	17: 78,370,042	H891Y	probably benign	Het
Dapp1	T	C	3: 137,933,158	E269G	probably benign	Het
Ddt	T	C	10: 75,773,229	D32G	probably benign	Het
Dlg5	T	C	14: 24,190,475	D236G	probably benign	Het
Edem1	C	A	6: 108,828,889	D50E	probably benign	Het
Exoc5	A	T	14: 49,019,458	N490K	probably damaging	Het
Fam117a	C	A	11: 95,337,245	D60E	possibly damaging	Het
Fam186a	A	G	15: 99,947,449	S305P	unknown	Het
Fbxw21	A	G	9: 109,143,778	F363L	probably benign	Het
Fhl2	A	G	1: 43,128,262	C224R	probably damaging	Het
Gad1	T	A	2: 70,579,199	N211K	probably damaging	Het
Gm13178	A	T	4: 144,715,441	I80K	probably benign	Het
Igdcc4	A	G	9: 65,131,650	T906A	possibly damaging	Het
Igkv3-5	T	C	6: 70,663,774	S80P	probably benign	Het
Igkv4-90	C	A	6: 68,807,347	G62*	probably null	Het
Il31ra	A	T	13: 112,532,974	Y386N	probably damaging	Het
Kif13a	G	T	13: 46,775,433	H1159N	probably damaging	Het
Kmt2a	G	A	9: 44,848,386	S722F	possibly damaging	Het
Mipep	T	C	14: 60,790,909	Y157H	probably damaging	Het
Mipol1	A	G	12: 57,414,383	E293G	probably damaging	Het
Mr1	A	G	1: 155,137,579	L84P	probably damaging	Het
Neb	A	G	2: 52,278,901	V1874A	possibly damaging	Het
Nefm	T	C	14: 68,121,121		probably benign	Het
Nek1	T	C	8: 61,012,117	M80T	probably damaging	Het
Nubp2	A	G	17: 24,884,399		probably null	Het
Olfr1131	T	C	2: 87,628,934	I41T	probably benign	Het
Olfr479	C	T	7: 108,055,807	T275M	probably damaging	Het
Olfr888	T	A	9: 38,109,422	C240*	probably null	Het
Ovch2	C	A	7: 107,793,335	R267L	probably damaging	Het
Pole	A	G	5: 110,299,821	E741G	possibly damaging	Het
Ptprh	T	A	7: 4,573,290	T324S	probably benign	Het
Pxk	T	A	14: 8,144,123	H290Q	probably damaging	Het
Rab11fip3	G	T	17: 26,018,245	T5N	unknown	Het
Rp9	G	A	9: 22,453,790	Q124*	probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,914		probably benign	Het
Runx2	A	G	17: 44,814,572	L19P	probably benign	Het
Sf1	C	T	19: 6,374,734	P473L	unknown	Het
Slc9a2	C	T	1: 40,767,827	T758I	probably benign	Het
Tas2r105	T	G	6: 131,686,988	H159P	probably benign	Het
Tas2r120	T	A	6: 132,656,991	M12K	probably benign	Het
Trpv4	T	C	5: 114,626,880	Y691C	probably damaging	Het
Unc93a	A	G	17: 13,115,601	V337A	probably benign	Het
Usp17le	T	G	7: 104,769,632	Q101P	probably damaging	Het
Usp3	A	T	9: 66,542,511		probably null	Het
Zfp445	T	C	9: 122,852,027	S950G	possibly damaging	Het
Zfp644	T	G	5: 106,636,833	D616A	probably damaging	Het
Zfp759	T	G	13: 67,140,397	C671G	probably damaging	Het
Zgrf1	G	T	3: 127,586,148	C1111F	probably damaging	Het
Zmym2	T	A	14: 56,911,275	S349T	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
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
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
X0003:1110002E22Rik	UTSW	3	138069096	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGAGACCCCAGGAGACATC -3'
(R):5'- GTAGTCCACCAGCTCCTTTG -3'

Sequencing Primer
(F):5'- GATGACAATAGCTGTTACGTCAG -3'
(R):5'- AGCTCCTTTGCCCGGATG -3'

Posted On

2022-03-25