Mutagenetix > Incidental Mutations

Incidental Mutation 'R4752:1110002E22Rik'

357660

Institutional Source

Beutler Lab

Gene Symbol

1110002E22Rik

Ensembl Gene

ENSMUSG00000090066

Gene Name

RIKEN cDNA 1110002E22 gene

Synonyms

MMRRC Submission

042032-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.263) question?

Stock #

R4752 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138065052-138081506 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 138069990 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1647 (Q1647K)

Ref Sequence

ENSEMBL: ENSMUSP00000123851 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000053318

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163080
AA Change: Q1647K

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: Q1647K

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

0.058

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	A	G	16: 20,550,576	E242G	probably damaging	Het
Adamts17	A	G	7: 67,004,470	T483A	probably damaging	Het
Ankrd26	G	T	6: 118,540,465	P465Q	probably null	Het
Babam2	C	T	5: 31,702,047	P32L	probably benign	Het
Bpifb1	T	A	2: 154,216,280		probably benign	Het
Ccnb1ip1	T	A	14: 50,793,665	T64S	possibly damaging	Het
Cdhr3	A	G	12: 33,086,103	V46A	probably damaging	Het
Cep170	A	T	1: 176,756,688	D708E	probably benign	Het
Cpsf6	A	T	10: 117,361,368		probably benign	Het
Cryzl2	C	T	1: 157,458,649		probably null	Het
Dgka	A	T	10: 128,736,659	F42I	probably benign	Het
Dip2a	A	T	10: 76,276,657	V1059E	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dock4	T	A	12: 40,446,365	I3K	probably benign	Het
Dsc2	A	T	18: 20,038,222	N573K	probably damaging	Het
Eif2b4	G	A	5: 31,191,231	R213*	probably null	Het
Eif3b	A	G	5: 140,441,101	D704G	probably benign	Het
Epn2	T	C	11: 61,546,371	E125G	probably damaging	Het
F830016B08Rik	A	G	18: 60,301,081	N412S	probably benign	Het
Fbln2	A	G	6: 91,256,243	M570V	probably benign	Het
Gm16686	A	T	4: 88,755,488	C35S	probably benign	Het
Hook2	C	T	8: 85,002,720	Q656*	probably null	Het
Ipcef1	A	T	10: 6,979,573	W57R	probably damaging	Het
Krt78	T	C	15: 101,948,202	I418M	probably benign	Het
Limk1	G	A	5: 134,670,441	T154I	probably damaging	Het
Lyl1	A	T	8: 84,704,281	T271S	probably benign	Het
Megf6	A	G	4: 154,252,438	I333V	probably damaging	Het
Meioc	A	G	11: 102,674,433	T292A	probably benign	Het
Nbas	A	G	12: 13,482,537	T1749A	possibly damaging	Het
Nfib	T	A	4: 82,296,779	Q539L	probably damaging	Het
Nfkb2	G	T	19: 46,307,567	E170D	probably benign	Het
Nisch	A	T	14: 31,192,588	F42L	probably damaging	Het
Nomo1	T	A	7: 46,057,202	Y547N	probably damaging	Het
Olfr1157	A	G	2: 87,962,349	L181P	probably damaging	Het
Olfr1512	C	T	14: 52,372,307	V249I	probably damaging	Het
Olfr538	T	C	7: 140,574,602	S150P	possibly damaging	Het
Olfr919	T	C	9: 38,697,970	Y136C	probably damaging	Het
Park2	T	C	17: 12,004,123	S387P	probably benign	Het
Pcdh18	T	A	3: 49,755,114	N117I	probably damaging	Het
Prl3c1	A	T	13: 27,203,525	K164N	probably benign	Het
Prr23a3	T	A	9: 98,865,647	L218Q	probably damaging	Het
Prss43	A	G	9: 110,827,768	H114R	possibly damaging	Het
Ptcd3	A	T	6: 71,901,312	M142K	probably damaging	Het
Shisa7	G	A	7: 4,834,250	T89I	possibly damaging	Het
Slco1a1	C	T	6: 141,946,614	A9T	possibly damaging	Het
Srcap	C	T	7: 127,559,000	P2683S	probably benign	Het
Tdg-ps	G	A	15: 82,516,371		noncoding transcript	Het
Tgm4	A	G	9: 123,051,386	D284G	probably damaging	Het
Tmc1	T	A	19: 20,826,649	I355F	probably benign	Het
Tmem121b	A	T	6: 120,493,034	F241I	possibly damaging	Het
Tmem200c	T	A	17: 68,842,240	V606E	probably benign	Het
Ttc39c	A	G	18: 12,728,725	K428R	probably benign	Het
Vmn2r87	G	A	10: 130,478,467	Q417*	probably null	Het
Vps45	T	C	3: 96,048,387	Y97C	possibly damaging	Het
Zfp407	A	G	18: 84,562,914	S25P	probably benign	Het
Zfp566	A	G	7: 30,077,881	S292P	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
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
X0003:1110002E22Rik	UTSW	3	138069096	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTACCACCAGCAGGCATTG -3'
(R):5'- TGAAGTACGGGGCTTCAGTG -3'

Sequencing Primer
(F):5'- AGCCTCAGGTCCTCTGC -3'
(R):5'- TTCAGTGAACGCTGCAGCTG -3'

Posted On

Nov 11, 2015