Mutagenetix > Incidental Mutations

Incidental Mutation 'R5536:1110002E22Rik'

434814

Institutional Source

Beutler Lab

Gene Symbol

1110002E22Rik

Ensembl Gene

ENSMUSG00000090066

Gene Name

RIKEN cDNA 1110002E22 gene

Synonyms

MMRRC Submission

043094-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.572) question?

Stock #

R5536 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

138065052-138081506 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 138066388 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 446 (G446V)

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: G446V

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: G446V

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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	T	G	3: 60,039,563	N227K	probably benign	Het
Acap1	C	T	11: 69,889,307	G74R	probably benign	Het
Adrm1	A	G	2: 180,172,188		probably benign	Het
Appl1	G	C	14: 26,923,780	S691*	probably null	Het
Atp2a2	T	C	5: 122,457,182	D1035G	probably benign	Het
AW551984	A	G	9: 39,592,873	I599T	probably benign	Het
Col23a1	C	A	11: 51,567,949	D304E	probably damaging	Het
Csmd1	T	C	8: 16,288,660	R478G	probably damaging	Het
Dnah7a	T	C	1: 53,425,253	N3660D	probably benign	Het
Drosha	T	A	15: 12,929,711	Y1331N	possibly damaging	Het
E2f6	T	G	12: 16,824,684	S256A	probably benign	Het
Evc	A	G	5: 37,326,583		probably benign	Het
Fsip2	A	T	2: 82,987,059	I4379F	probably benign	Het
Galnt2	T	C	8: 124,323,673	C91R	probably damaging	Het
Gm3095	G	T	14: 3,964,502	M73I	probably benign	Het
Gpr179	T	A	11: 97,343,815	Q480L	probably damaging	Het
Gucy2g	T	A	19: 55,237,927	I186F	probably benign	Het
Hmcn1	T	A	1: 150,755,291	I919F	probably benign	Het
Kdm3a	A	C	6: 71,611,936	V363G	probably benign	Het
Kmt2d	G	A	15: 98,852,109		probably benign	Het
Lama5	C	T	2: 180,189,349	R1839H	probably damaging	Het
Lpo	T	C	11: 87,816,563	D208G	probably damaging	Het
Lpp	A	G	16: 24,845,206	D411G	possibly damaging	Het
Marco	T	C	1: 120,504,735	S8G	possibly damaging	Het
Mthfr	T	C	4: 148,044,483	F171S	probably damaging	Het
Nlrx1	A	T	9: 44,263,886	S198T	probably damaging	Het
Nol10	C	A	12: 17,416,137	S511*	probably null	Het
Nup153	T	C	13: 46,683,009	T1375A	probably benign	Het
Obscn	A	G	11: 59,107,871	S1367P	probably damaging	Het
Olfr1269	A	G	2: 90,118,839	V253A	probably benign	Het
Pcdha7	G	A	18: 36,975,250	V443M	probably damaging	Het
Plekha1	G	T	7: 130,909,601	R305I	probably damaging	Het
Psmb2	T	A	4: 126,684,209	I60N	probably damaging	Het
Rad17	C	A	13: 100,631,104	G330C	probably damaging	Het
Slc5a6	A	G	5: 31,043,102	S80P	probably damaging	Het
Srgap2	T	A	1: 131,300,390		probably null	Het
Taf8	C	A	17: 47,494,482	R164L	possibly damaging	Het
Tmem87a	C	A	2: 120,397,430	D79Y	probably damaging	Het
Tmtc4	G	A	14: 122,932,879	R574W	probably benign	Het
Tprn	G	A	2: 25,263,357	A224T	probably benign	Het
Usf3	A	G	16: 44,217,370	T738A	probably benign	Het
Vmn2r54	A	C	7: 12,632,416	V197G	probably benign	Het
Zbtb40	G	T	4: 136,987,331	P1049Q	probably damaging	Het
Zfp551	A	T	7: 12,415,561	S640R	possibly damaging	Het
Zfp932	T	A	5: 110,009,847	C470*	probably null	Het
Zkscan8	T	C	13: 21,526,668	I91V	probably damaging	Het
Zmat4	T	C	8: 23,748,492	V30A	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
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
X0003:1110002E22Rik	UTSW	3	138069096	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTCGAGGACAACAACGTGATC -3'
(R):5'- TTATAGCCCGGGAAGTTGGC -3'

Sequencing Primer
(F):5'- CAACGTGATCTATTCATTCGTGGAC -3'
(R):5'- AGGATCTGGCTTGCTGCACTC -3'

Posted On

2016-10-24