Mutagenetix > Incidental Mutation

Incidental Mutation 'R7799:1110002E22Rik'

600416

Institutional Source

Beutler Lab

Gene Symbol

1110002E22Rik

Ensembl Gene

ENSMUSG00000090066

Gene Name

RIKEN cDNA 1110002E22 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.481) question?

Stock #

R7799 (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 138069601 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1517 (V1517A)

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 benign
Transcript: ENSMUST00000163080
AA Change: V1517A

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: V1517A

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: 99.1%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	C	A	12: 21,340,492	G410C	probably damaging	Het
Adcy3	A	G	12: 4,204,762	D698G	probably damaging	Het
Afap1	T	A	5: 35,974,398	N356K	possibly damaging	Het
Afm	A	G	5: 90,523,854	N132D	probably benign	Het
Bsdc1	T	A	4: 129,465,348		probably null	Het
C130060K24Rik	G	T	6: 65,456,137	A314S	possibly damaging	Het
Casc4	T	C	2: 121,933,541	V434A	probably benign	Het
Ccdc47	T	C	11: 106,210,317	E173G	possibly damaging	Het
Cit	T	G	5: 115,862,968	F142C	probably benign	Het
Cnga3	A	G	1: 37,261,771	D524G	probably damaging	Het
Cpne8	T	A	15: 90,540,247	D313V	probably damaging	Het
Ell3	TCTCCTC	TCTC	2: 121,439,456		probably benign	Het
Flrt1	C	A	19: 7,095,864	L439F	possibly damaging	Het
Gkn1	A	T	6: 87,348,181	I82N	probably damaging	Het
Gm14410	C	A	2: 177,193,820	C217F	probably damaging	Het
Gm14412	G	T	2: 177,315,797	H102N	probably benign	Het
Gm3159	A	T	14: 4,397,585		probably benign	Het
Gm6205	A	G	5: 94,683,428	D98G	possibly damaging	Het
Gm6588	T	G	5: 112,449,832	Y82D	not run	Het
Gm9733	T	A	3: 15,296,663		probably null	Het
Helz2	A	G	2: 181,237,989	M612T	probably benign	Het
Iars	T	A	13: 49,723,018	I853N	probably damaging	Het
Kcna4	A	C	2: 107,295,892	I324L	possibly damaging	Het
Kcnh1	T	C	1: 192,434,875	S690P	probably damaging	Het
Kpna3	T	C	14: 61,384,733	Y194C	probably damaging	Het
Lrrc56	T	C	7: 141,209,602	S511P	probably damaging	Het
Ltbp1	A	G	17: 75,252,356	Y280C	probably damaging	Het
Macf1	A	G	4: 123,527,113	I116T	probably benign	Het
Mmp16	A	T	4: 18,112,112	N496I	probably damaging	Het
Mon2	T	C	10: 123,042,331	D229G	probably benign	Het
Olfr1137	G	T	2: 87,711,084	T274K	possibly damaging	Het
Olfr1359	T	A	13: 21,703,199	L66Q	probably damaging	Het
Olfr485	T	A	7: 108,159,430	I148F	probably benign	Het
Olfr531	A	T	7: 140,400,464	M194K	probably damaging	Het
Olfr593	A	G	7: 103,211,979	I40V	probably benign	Het
Pkp1	A	G	1: 135,889,957	F147L	possibly damaging	Het
Ppp1r3e	T	C	14: 54,877,215	Q30R	probably damaging	Het
Ppp2r5b	C	A	19: 6,232,598	R174L	probably benign	Het
Rbm15	C	T	3: 107,332,143	R313H	probably damaging	Het
Rgs18	A	G	1: 144,753,865	F219L	probably damaging	Het
Ryr1	T	C	7: 29,003,560		probably null	Het
Sirt4	T	G	5: 115,479,746	I284L	probably benign	Het
Slc25a11	A	G	11: 70,645,179	V243A	probably benign	Het
Syde1	A	G	10: 78,589,907	I142T	probably benign	Het
Synj2	A	G	17: 6,037,823	E1383G	probably benign	Het
Syt4	A	T	18: 31,440,192	C423*	probably null	Het
Tfr2	T	A	5: 137,571,724	Y131N	possibly damaging	Het
Tgm1	C	T	14: 55,712,475	R92Q	unknown	Het
Thoc1	A	T	18: 9,984,441	D309V	probably damaging	Het
Vmn2r24	C	T	6: 123,780,463	H97Y	probably benign	Het
Wbp1	A	T	6: 83,120,195	Y89*	probably null	Het
Wnk1	A	G	6: 119,949,176	L1358P	probably benign	Het
Zfp14	T	C	7: 30,038,943	T206A	possibly damaging	Het
Zfp748	T	C	13: 67,541,489	T551A	probably benign	Het
Zfp9	A	T	6: 118,464,882	V273E	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
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'- TGTGAGAATTACCTGACTATCCCC -3'
(R):5'- GTCACATCCAGGAGCATCTTG -3'

Sequencing Primer
(F):5'- TATCCCCCTTAAAGGAAGTGCTG -3'
(R):5'- TCTGTGGGGACAGCAGCTG -3'

Posted On

2019-11-26