Mutagenetix > Incidental Mutation

Incidental Mutation 'R4520:1110002E22Rik'

334164

Institutional Source

Beutler Lab

Gene Symbol

1110002E22Rik

Ensembl Gene

ENSMUSG00000090066

Gene Name

RIKEN cDNA 1110002E22 gene

Synonyms

MMRRC Submission

041763-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.544) question?

Stock #

R4520 (G1)

Quality Score

221

Status

Not validated

Chromosome

Chromosomal Location

138065052-138081506 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138070266 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1739 (T1739A)

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: T1739A

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

SMART Domains

Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: T1739A

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ascc3	A	G	10: 50,660,670 (GRCm38)	N700D	probably benign	Het
Ccdc88c	G	T	12: 100,913,332 (GRCm38)	S1843R	possibly damaging	Het
Cel	C	T	2: 28,557,968 (GRCm38)	V349M	probably benign	Het
Cspp1	A	G	1: 10,134,227 (GRCm38)	T1127A	probably benign	Het
Cyp2b10	T	C	7: 25,911,557 (GRCm38)	V113A	probably benign	Het
Cyp2c50	A	G	19: 40,090,689 (GRCm38)	T159A	probably benign	Het
Degs1	T	C	1: 182,276,808 (GRCm38)	D304G	possibly damaging	Het
Esr2	G	A	12: 76,167,549 (GRCm38)	P43S	possibly damaging	Het
Fbxo41	A	G	6: 85,484,042 (GRCm38)	I228T	probably damaging	Het
Gm5444	A	G	13: 4,834,226 (GRCm38)		noncoding transcript	Het
Golga3	T	A	5: 110,203,751 (GRCm38)	L790*	probably null	Het
Gtpbp6	T	C	5: 110,107,859 (GRCm38)	T105A	probably benign	Het
Ido2	T	C	8: 24,576,178 (GRCm38)	E24G	probably damaging	Het
Ihh	T	A	1: 74,950,950 (GRCm38)	I89F	probably damaging	Het
Krt13	A	G	11: 100,119,348 (GRCm38)	M269T	probably damaging	Het
Marf1	T	C	16: 14,132,666 (GRCm38)	H952R	probably damaging	Het
Mga	T	A	2: 119,948,098 (GRCm38)	F2041L	possibly damaging	Het
Msmo1	A	C	8: 64,720,523 (GRCm38)		probably benign	Het
Mterf1a	A	G	5: 3,890,992 (GRCm38)	V292A	probably damaging	Het
Naxe	A	G	3: 88,057,982 (GRCm38)		probably null	Het
Ntng1	A	G	3: 109,934,996 (GRCm38)	S154P	probably damaging	Het
Olfr1097	T	C	2: 86,891,019 (GRCm38)	D52G	probably benign	Het
Olfr572	A	T	7: 102,928,557 (GRCm38)	I310F	probably benign	Het
Olfr657	T	A	7: 104,636,169 (GRCm38)	V165E	probably damaging	Het
Otog	T	A	7: 46,241,053 (GRCm38)		probably benign	Het
Pigo	A	T	4: 43,020,301 (GRCm38)	H880Q	probably benign	Het
Plce1	T	C	19: 38,524,319 (GRCm38)	S21P	possibly damaging	Het
Pole	T	A	5: 110,297,924 (GRCm38)	D555E	probably damaging	Het
Prkag2	A	G	5: 24,866,171 (GRCm38)	V403A	probably damaging	Het
Psg28	T	A	7: 18,422,901 (GRCm38)	M470L	probably benign	Het
Rpgrip1	A	G	14: 52,152,289 (GRCm38)	T1138A	probably benign	Het
Rpl10l	T	C	12: 66,283,738 (GRCm38)	D207G	probably benign	Het
Rufy4	T	C	1: 74,147,663 (GRCm38)	C537R	probably damaging	Het
Serpinb9c	T	C	13: 33,151,857 (GRCm38)		probably null	Het
Sh2d6	T	C	6: 72,518,953 (GRCm38)	N101D	possibly damaging	Het
Shisa8	C	G	15: 82,211,962 (GRCm38)	V151L	possibly damaging	Het
Slc13a1	T	C	6: 24,134,513 (GRCm38)	T124A	probably benign	Het
Slc6a3	G	A	13: 73,540,856 (GRCm38)	V100M	possibly damaging	Het
Sspn	A	G	6: 145,961,307 (GRCm38)	T79A	probably benign	Het
Tlr8	C	T	X: 167,243,175 (GRCm38)	R893H	probably damaging	Het
Tnrc18	T	C	5: 142,732,150 (GRCm38)	K2183R	unknown	Het
Trim15	T	C	17: 36,866,350 (GRCm38)	I139M	probably benign	Het
Trmt13	A	T	3: 116,581,613 (GRCm38)		probably null	Het
Vmn2r84	T	A	10: 130,386,522 (GRCm38)	T610S	probably damaging	Het
Zcchc14	A	T	8: 121,609,095 (GRCm38)		probably benign	Het

Other mutations in 1110002E22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0026:1110002E22Rik	UTSW	3	138,066,805 (GRCm38)	missense	possibly damaging	0.95
R0047:1110002E22Rik	UTSW	3	138,066,264 (GRCm38)	missense	probably damaging	0.97
R0047:1110002E22Rik	UTSW	3	138,066,264 (GRCm38)	missense	probably damaging	0.97
R0102:1110002E22Rik	UTSW	3	138,068,113 (GRCm38)	missense	probably damaging	1.00
R0102:1110002E22Rik	UTSW	3	138,068,113 (GRCm38)	missense	probably damaging	1.00
R0197:1110002E22Rik	UTSW	3	138,069,871 (GRCm38)	missense	probably damaging	1.00
R0239:1110002E22Rik	UTSW	3	138,065,834 (GRCm38)	small deletion	probably benign
R0394:1110002E22Rik	UTSW	3	138,067,304 (GRCm38)	missense	probably damaging	0.99
R0401:1110002E22Rik	UTSW	3	138,070,306 (GRCm38)	missense	possibly damaging	0.73
R0496:1110002E22Rik	UTSW	3	138,068,244 (GRCm38)	missense	probably damaging	1.00
R0591:1110002E22Rik	UTSW	3	138,068,943 (GRCm38)	nonsense	probably null
R0711:1110002E22Rik	UTSW	3	138,068,225 (GRCm38)	missense	probably damaging	0.99
R0883:1110002E22Rik	UTSW	3	138,069,871 (GRCm38)	missense	probably damaging	1.00
R0908:1110002E22Rik	UTSW	3	138,070,077 (GRCm38)	missense	probably damaging	0.99
R0968:1110002E22Rik	UTSW	3	138,067,206 (GRCm38)	missense	probably damaging	0.99
R1023:1110002E22Rik	UTSW	3	138,066,871 (GRCm38)	missense	probably damaging	1.00
R1168:1110002E22Rik	UTSW	3	138,067,900 (GRCm38)	missense	probably benign	0.20
R1472:1110002E22Rik	UTSW	3	138,067,552 (GRCm38)	missense	possibly damaging	0.95
R1538:1110002E22Rik	UTSW	3	138,065,401 (GRCm38)	missense	probably benign	0.02
R1648:1110002E22Rik	UTSW	3	138,069,420 (GRCm38)	missense	probably benign	0.18
R1800:1110002E22Rik	UTSW	3	138,066,718 (GRCm38)	missense	probably damaging	1.00
R1919:1110002E22Rik	UTSW	3	138,067,270 (GRCm38)	missense	probably damaging	0.99
R1974:1110002E22Rik	UTSW	3	138,067,267 (GRCm38)	missense	probably damaging	1.00
R1990:1110002E22Rik	UTSW	3	138,065,658 (GRCm38)	nonsense	probably null
R1991:1110002E22Rik	UTSW	3	138,065,658 (GRCm38)	nonsense	probably null
R2102:1110002E22Rik	UTSW	3	138,065,173 (GRCm38)	missense	probably damaging	0.99
R2761:1110002E22Rik	UTSW	3	138,067,780 (GRCm38)	missense	probably damaging	0.99
R2899:1110002E22Rik	UTSW	3	138,065,682 (GRCm38)	missense	probably benign	0.00
R3618:1110002E22Rik	UTSW	3	138,068,407 (GRCm38)	missense	probably damaging	1.00
R3904:1110002E22Rik	UTSW	3	138,066,639 (GRCm38)	missense	probably benign	0.15
R3955:1110002E22Rik	UTSW	3	138,068,073 (GRCm38)	missense	probably benign	0.00
R4619:1110002E22Rik	UTSW	3	138,069,759 (GRCm38)	missense	probably damaging	0.99
R4736:1110002E22Rik	UTSW	3	138,068,485 (GRCm38)	missense	probably damaging	0.99
R4752:1110002E22Rik	UTSW	3	138,069,990 (GRCm38)	missense	possibly damaging	0.91
R4777:1110002E22Rik	UTSW	3	138,065,742 (GRCm38)	missense	probably benign	0.09
R4780:1110002E22Rik	UTSW	3	138,065,370 (GRCm38)	missense	probably benign	0.02
R4824:1110002E22Rik	UTSW	3	138,065,676 (GRCm38)	missense	probably benign	0.00
R4829:1110002E22Rik	UTSW	3	138,069,019 (GRCm38)	missense	probably damaging	0.99
R4965:1110002E22Rik	UTSW	3	138,069,672 (GRCm38)	missense	probably benign
R5206:1110002E22Rik	UTSW	3	138,066,511 (GRCm38)	missense	probably benign	0.00
R5212:1110002E22Rik	UTSW	3	138,065,850 (GRCm38)	missense	possibly damaging	0.85
R5373:1110002E22Rik	UTSW	3	138,067,635 (GRCm38)	missense	probably benign
R5374:1110002E22Rik	UTSW	3	138,067,635 (GRCm38)	missense	probably benign
R5506:1110002E22Rik	UTSW	3	138,067,947 (GRCm38)	missense	probably damaging	1.00
R5528:1110002E22Rik	UTSW	3	138,066,499 (GRCm38)	missense	probably benign
R5536:1110002E22Rik	UTSW	3	138,066,388 (GRCm38)	missense	possibly damaging	0.89
R5587:1110002E22Rik	UTSW	3	138,065,409 (GRCm38)	missense	probably benign
R5759:1110002E22Rik	UTSW	3	138,068,658 (GRCm38)	missense	probably benign
R5933:1110002E22Rik	UTSW	3	138,070,348 (GRCm38)	missense	probably damaging	1.00
R5957:1110002E22Rik	UTSW	3	138,070,161 (GRCm38)	missense	probably benign
R6092:1110002E22Rik	UTSW	3	138,068,940 (GRCm38)	missense	probably benign	0.02
R6305:1110002E22Rik	UTSW	3	138,067,980 (GRCm38)	missense	probably damaging	1.00
R6457:1110002E22Rik	UTSW	3	138,066,622 (GRCm38)	missense	probably damaging	1.00
R6469:1110002E22Rik	UTSW	3	138,066,975 (GRCm38)	missense	probably damaging	0.97
R6499:1110002E22Rik	UTSW	3	138,068,800 (GRCm38)	missense	probably damaging	1.00
R6527:1110002E22Rik	UTSW	3	138,067,527 (GRCm38)	missense	probably damaging	0.99
R6580:1110002E22Rik	UTSW	3	138,066,625 (GRCm38)	missense	probably benign	0.00
R6693:1110002E22Rik	UTSW	3	138,069,154 (GRCm38)	missense	probably benign	0.00
R6751:1110002E22Rik	UTSW	3	138,066,210 (GRCm38)	missense	probably damaging	1.00
R6852:1110002E22Rik	UTSW	3	138,065,169 (GRCm38)	nonsense	probably null
R6920:1110002E22Rik	UTSW	3	138,068,050 (GRCm38)	missense	probably damaging	1.00
R7001:1110002E22Rik	UTSW	3	138,065,511 (GRCm38)	missense	probably benign
R7145:1110002E22Rik	UTSW	3	138,070,059 (GRCm38)	missense	probably damaging	1.00
R7238:1110002E22Rik	UTSW	3	138,069,951 (GRCm38)	missense	probably damaging	1.00
R7278:1110002E22Rik	UTSW	3	138,065,476 (GRCm38)	missense	probably benign
R7425:1110002E22Rik	UTSW	3	138,065,695 (GRCm38)	missense	probably benign	0.00
R7487:1110002E22Rik	UTSW	3	138,066,868 (GRCm38)	missense	probably damaging	1.00
R7557:1110002E22Rik	UTSW	3	138,068,283 (GRCm38)	nonsense	probably null
R7663:1110002E22Rik	UTSW	3	138,066,126 (GRCm38)	missense	probably damaging	0.98
R7743:1110002E22Rik	UTSW	3	138,068,755 (GRCm38)	missense	probably damaging	1.00
R7799:1110002E22Rik	UTSW	3	138,069,601 (GRCm38)	missense	probably benign	0.33
R8181:1110002E22Rik	UTSW	3	138,068,395 (GRCm38)	missense	probably damaging	0.99
R8264:1110002E22Rik	UTSW	3	138,067,782 (GRCm38)	missense	probably damaging	0.99
R8273:1110002E22Rik	UTSW	3	138,066,450 (GRCm38)	missense	probably benign
R8434:1110002E22Rik	UTSW	3	138,067,260 (GRCm38)	missense	probably damaging	0.97
R8530:1110002E22Rik	UTSW	3	138,068,825 (GRCm38)	missense	probably damaging	0.99
R8754:1110002E22Rik	UTSW	3	138,066,037 (GRCm38)	missense	probably benign
R8808:1110002E22Rik	UTSW	3	138,070,113 (GRCm38)	missense	probably benign	0.01
R8891:1110002E22Rik	UTSW	3	138,066,759 (GRCm38)	nonsense	probably null
R9026:1110002E22Rik	UTSW	3	138,065,148 (GRCm38)	missense	possibly damaging	0.53
R9177:1110002E22Rik	UTSW	3	138,069,916 (GRCm38)	missense	probably damaging	1.00
R9250:1110002E22Rik	UTSW	3	138,066,628 (GRCm38)	missense	probably damaging	1.00
R9291:1110002E22Rik	UTSW	3	138,066,703 (GRCm38)	missense	probably benign	0.02
R9293:1110002E22Rik	UTSW	3	138,066,078 (GRCm38)	missense	possibly damaging	0.93
R9307:1110002E22Rik	UTSW	3	138,065,422 (GRCm38)	missense	probably benign	0.04
R9439:1110002E22Rik	UTSW	3	138,066,287 (GRCm38)	missense	probably benign	0.00
R9509:1110002E22Rik	UTSW	3	138,065,834 (GRCm38)	small deletion	probably benign
R9582:1110002E22Rik	UTSW	3	138,067,005 (GRCm38)	missense	probably damaging	0.99
R9599:1110002E22Rik	UTSW	3	138,068,506 (GRCm38)	missense	probably benign	0.16
R9613:1110002E22Rik	UTSW	3	138,065,365 (GRCm38)	missense	probably damaging	0.98
R9670:1110002E22Rik	UTSW	3	138,065,133 (GRCm38)	missense	probably benign
X0003:1110002E22Rik	UTSW	3	138,069,096 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGATTTCTGCCCACAGTGC -3'
(R):5'- CCAGGACATCAGATCATCAGAG -3'

Sequencing Primer
(F):5'- TGCCCACAGTGCTGCCC -3'
(R):5'- GGACATCAGATCATCAGAGTAAAAC -3'

Posted On

2015-08-18