Mutagenetix > Incidental Mutations

Incidental Mutation 'R4829:1110002E22Rik'

372652

Institutional Source

Beutler Lab

Gene Symbol

1110002E22Rik

Ensembl Gene

ENSMUSG00000090066

Gene Name

RIKEN cDNA 1110002E22 gene

Synonyms

MMRRC Submission

042445-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.576) question?

Stock #

R4829 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138065052-138081506 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138069019 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1323 (V1323A)

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: V1323A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: V1323A

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

0.1024

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

Validation Efficiency

98% (109/111)

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	T	C	8: 45,967,915	I159V	probably damaging	Het
1700061G19Rik	A	G	17: 56,883,500		probably null	Het
Abcb1a	T	C	5: 8,723,214	L814P	probably damaging	Het
Acat1	C	A	9: 53,591,456	G191V	probably damaging	Het
Adamts20	A	T	15: 94,326,396	D1184E	probably benign	Het
Adssl1	T	C	12: 112,634,713	L283P	probably damaging	Het
Arid4a	A	G	12: 71,023,498		probably null	Het
Arid4b	T	A	13: 14,184,438	D599E	probably benign	Het
AW146154	T	C	7: 41,480,633	K353R	possibly damaging	Het
Axdnd1	G	T	1: 156,376,646	R547S	possibly damaging	Het
BC067074	A	G	13: 113,368,162	I1942V	probably benign	Het
BC147527	G	A	13: 120,308,390	C82Y	possibly damaging	Het
Bcat1	A	T	6: 145,015,475	F134Y	probably damaging	Het
Camk2d	C	A	3: 126,779,997		probably benign	Het
Catsperg2	T	G	7: 29,701,125	K268T	probably damaging	Het
Ccar1	A	C	10: 62,745,335	F1103L	unknown	Het
Ccdc141	T	A	2: 77,074,916	E395D	probably damaging	Het
Cdc37l1	A	G	19: 28,990,583	T16A	probably benign	Het
Cdca2	T	A	14: 67,693,753		probably null	Het
Cntn5	T	G	9: 9,976,283	K219Q	probably damaging	Het
Col23a1	C	A	11: 51,557,586	A202E	unknown	Het
Csmd1	G	A	8: 16,127,296	L1318F	probably damaging	Het
Csnk1g3	C	T	18: 53,895,823	A16V	possibly damaging	Het
Dab2	A	G	15: 6,424,681	D224G	probably damaging	Het
Ddr1	A	T	17: 35,685,113	C625S	probably damaging	Het
Dennd4a	T	C	9: 64,889,056	V788A	probably damaging	Het
Dgcr2	T	C	16: 17,842,753	E402G	possibly damaging	Het
Dhcr7	T	G	7: 143,837,917	I81S	probably damaging	Het
Exd1	C	T	2: 119,520,326	A485T	probably benign	Het
Fat1	C	T	8: 45,036,162	T3467I	probably damaging	Het
Fblim1	T	C	4: 141,584,709	E235G	probably damaging	Het
Fbxo38	T	A	18: 62,518,591	M548L	probably benign	Het
Fstl5	T	C	3: 76,322,182	Y97H	probably damaging	Het
Glb1l	A	T	1: 75,200,350	S481T	probably damaging	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gp2	A	T	7: 119,457,184	V22E	possibly damaging	Het
Grin1	A	G	2: 25,318,724	S55P	possibly damaging	Het
Herc2	A	G	7: 56,106,492	D760G	probably benign	Het
Hpn	A	G	7: 31,098,875		probably benign	Het
Hsf2	T	C	10: 57,496,170	V73A	probably damaging	Het
Ighv1-42	T	C	12: 114,937,168	Y80C	probably benign	Het
Ighv1-64	T	C	12: 115,507,726	K57R	probably benign	Het
Klc1	T	C	12: 111,795,603	I569T	probably damaging	Het
Klra3	T	G	6: 130,323,616	K263N	probably benign	Het
Lrcol1	C	A	5: 110,354,527	H90N	probably benign	Het
Mamdc4	T	C	2: 25,565,356	E921G	possibly damaging	Het
Mark1	G	A	1: 184,905,527	R622W	possibly damaging	Het
Mdga1	A	G	17: 29,846,369	S696P	possibly damaging	Het
Mmp1b	C	T	9: 7,370,729		probably null	Het
Mtnr1a	T	C	8: 45,085,615		probably benign	Het
Myo5a	T	C	9: 75,136,407	I226T	probably damaging	Het
Ncoa6	G	T	2: 155,415,227	P799T	probably damaging	Het
Npc1l1	C	T	11: 6,214,010		probably null	Het
Nxph3	T	C	11: 95,511,495	E31G	probably benign	Het
Obscn	T	C	11: 59,054,246	I4649V	probably null	Het
Olfr1100	G	A	2: 86,978,574	S74L	probably damaging	Het
Olfr875	G	T	9: 37,772,947	C96F	probably damaging	Het
Olfr955	A	T	9: 39,470,367	Y120N	probably damaging	Het
Olfr960	A	T	9: 39,623,438	H103L	probably damaging	Het
P3h3	G	A	6: 124,841,638		probably benign	Het
Pcnx2	A	T	8: 125,861,058		probably null	Het
Pirb	C	T	7: 3,717,603	G299S	probably benign	Het
Pla2g4d	A	G	2: 120,266,743	S792P	probably damaging	Het
Plppr4	A	T	3: 117,335,591	L76M	possibly damaging	Het
Ppp2r3a	A	T	9: 101,212,510	S205T	possibly damaging	Het
Prkdc	G	A	16: 15,702,075	D1126N	possibly damaging	Het
Prrt4	G	A	6: 29,177,182	S196L	probably benign	Het
Ptpn21	A	C	12: 98,689,296	S471A	probably damaging	Het
Ptprk	C	A	10: 28,580,484	S9*	probably null	Het
Rassf4	A	T	6: 116,645,142	I163K	possibly damaging	Het
Rgs22	C	A	15: 36,103,888	R142S	probably damaging	Het
Rit2	C	A	18: 31,212,673	L73F	probably damaging	Het
Rrbp1	A	C	2: 143,989,687	S187A	probably benign	Het
Rspo2	A	T	15: 43,093,187	Y83*	probably null	Het
Scn5a	C	T	9: 119,534,707	V456M	probably benign	Het
Scn9a	T	A	2: 66,551,713	H290L	probably benign	Het
Smarca4	T	C	9: 21,639,327	I452T	probably damaging	Het
Smc2	T	A	4: 52,449,612	I198K	probably damaging	Het
Smim14	G	A	5: 65,460,603		probably benign	Het
Spg11	A	C	2: 122,108,455	N339K	probably benign	Het
Spta1	A	G	1: 174,237,927	E2014G	probably benign	Het
Stk4	T	C	2: 164,099,827		probably null	Het
Sypl	C	T	12: 32,967,646	T121M	probably damaging	Het
Tas2r120	T	A	6: 132,657,368	F138I	probably benign	Het
Tet2	A	C	3: 133,476,620	C1194W	possibly damaging	Het
Tex29	T	C	8: 11,855,668		probably benign	Het
Tnfrsf22	T	A	7: 143,643,330	T91S	possibly damaging	Het
Tnik	A	T	3: 28,539,541		probably benign	Het
Tnr	A	T	1: 159,858,404	I402F	probably benign	Het
Unc93b1	A	T	19: 3,944,293	S475C	probably damaging	Het
Utrn	T	A	10: 12,663,461	E1937D	probably benign	Het
Vmn1r227	A	T	17: 20,735,665		noncoding transcript	Het
Vmn2r101	G	A	17: 19,611,967	V742I	probably benign	Het
Vmn2r81	T	C	10: 79,247,801	L3P	possibly damaging	Het
Zfp882	T	G	8: 71,914,389	H353Q	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
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
X0003:1110002E22Rik	UTSW	3	138069096	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCTACAGCTTCAACAGGAATG -3'
(R):5'- GTGAACACGTTCCGATTGC -3'

Sequencing Primer
(F):5'- TCTACAGCTTCAACAGGAATGAATGG -3'
(R):5'- CGATTGCCGGGGAGTGG -3'

Posted On

2016-03-01