Mutagenetix > Incidental Mutation

Incidental Mutation 'R9670:1110002E22Rik'

727996

Institutional Source

Beutler Lab

Gene Symbol

1110002E22Rik

Ensembl Gene

ENSMUSG00000090066

Gene Name

RIKEN cDNA 1110002E22 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.545) question?

Stock #

R9670 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

137770813-137787267 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 137770894 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 28 (T28A)

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: T28A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: T28A

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	T	C	3: 89,253,270 (GRCm39)	I220V	probably benign	Het
Atf7ip2	T	A	16: 10,058,512 (GRCm39)	V317E	probably benign	Het
Bin3	T	G	14: 70,367,009 (GRCm39)		probably null	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Brd2	T	C	17: 34,334,205 (GRCm39)	T286A	possibly damaging	Het
Cers6	A	G	2: 68,833,114 (GRCm39)	Y144C	probably benign	Het
Cox4i2	C	A	2: 152,602,610 (GRCm39)	N101K	probably damaging	Het
Dguok	T	A	6: 83,463,999 (GRCm39)	L186F	probably benign	Het
Dock8	A	G	19: 25,148,926 (GRCm39)	N1468S	probably null	Het
Eral1	T	C	11: 77,965,410 (GRCm39)	H335R		Het
Gm3248	A	T	14: 5,944,993 (GRCm38)	I63K	probably benign	Het
Gm3415	A	C	5: 146,493,376 (GRCm39)	I74L	probably benign	Het
Kdm5b	A	T	1: 134,558,240 (GRCm39)	R1416*	probably null	Het
Lrit2	T	A	14: 36,790,115 (GRCm39)	C28*	probably null	Het
Mctp1	A	T	13: 76,532,840 (GRCm39)	T63S	probably benign	Het
Ncbp3	T	A	11: 72,944,323 (GRCm39)	N108K	possibly damaging	Het
Nlrp4b	A	G	7: 10,448,651 (GRCm39)	I285V	probably benign	Het
Nup85	C	T	11: 115,457,471 (GRCm39)	R58W	probably benign	Het
Pcnx4	T	C	12: 72,613,792 (GRCm39)	V579A	probably benign	Het
Pde10a	T	C	17: 9,020,272 (GRCm39)	S70P	unknown	Het
Pfpl	T	C	19: 12,407,107 (GRCm39)	F453L	probably damaging	Het
Ppp3cb	C	A	14: 20,578,314 (GRCm39)	L145F	probably damaging	Het
Prg4	T	C	1: 150,326,618 (GRCm39)	K357R	probably benign	Het
Prkcb	G	T	7: 122,233,070 (GRCm39)	E656*	probably null	Het
Prrc2b	C	A	2: 32,103,199 (GRCm39)	H892Q	probably benign	Het
Pxk	T	C	14: 8,140,748 (GRCm38)		probably null	Het
Ruvbl1	T	C	6: 88,444,558 (GRCm39)	V51A	probably benign	Het
Ryr3	C	A	2: 112,560,845 (GRCm39)	R2972L	probably benign	Het
Sec14l1	A	G	11: 117,046,058 (GRCm39)	I542V	possibly damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Sgk1	AAGA	AAGAGA	10: 21,868,290 (GRCm39)		probably null	Het
Slc26a9	C	A	1: 131,681,688 (GRCm39)	A167E	probably benign	Het
Tarbp1	A	T	8: 127,183,262 (GRCm39)	L519Q	probably null	Het
Trak2	G	A	1: 58,985,463 (GRCm39)	R12*	probably null	Het
Ush2a	A	G	1: 188,360,768 (GRCm39)	I2163V	probably benign	Het
Vmn2r114	T	A	17: 23,531,098 (GRCm39)	N64Y		Het
Wdfy4	T	C	14: 32,769,219 (GRCm39)	Y2236C		Het
Zfp316	A	T	5: 143,240,348 (GRCm39)	V557E	possibly damaging	Het

Other mutations in 1110002E22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0026:1110002E22Rik	UTSW	3	137,772,566 (GRCm39)	missense	possibly damaging	0.95
R0047:1110002E22Rik	UTSW	3	137,772,025 (GRCm39)	missense	probably damaging	0.97
R0047:1110002E22Rik	UTSW	3	137,772,025 (GRCm39)	missense	probably damaging	0.97
R0102:1110002E22Rik	UTSW	3	137,773,874 (GRCm39)	missense	probably damaging	1.00
R0102:1110002E22Rik	UTSW	3	137,773,874 (GRCm39)	missense	probably damaging	1.00
R0197:1110002E22Rik	UTSW	3	137,775,632 (GRCm39)	missense	probably damaging	1.00
R0239:1110002E22Rik	UTSW	3	137,771,595 (GRCm39)	small deletion	probably benign
R0394:1110002E22Rik	UTSW	3	137,773,065 (GRCm39)	missense	probably damaging	0.99
R0401:1110002E22Rik	UTSW	3	137,776,067 (GRCm39)	missense	possibly damaging	0.73
R0496:1110002E22Rik	UTSW	3	137,774,005 (GRCm39)	missense	probably damaging	1.00
R0591:1110002E22Rik	UTSW	3	137,774,704 (GRCm39)	nonsense	probably null
R0711:1110002E22Rik	UTSW	3	137,773,986 (GRCm39)	missense	probably damaging	0.99
R0883:1110002E22Rik	UTSW	3	137,775,632 (GRCm39)	missense	probably damaging	1.00
R0908:1110002E22Rik	UTSW	3	137,775,838 (GRCm39)	missense	probably damaging	0.99
R0968:1110002E22Rik	UTSW	3	137,772,967 (GRCm39)	missense	probably damaging	0.99
R1023:1110002E22Rik	UTSW	3	137,772,632 (GRCm39)	missense	probably damaging	1.00
R1168:1110002E22Rik	UTSW	3	137,773,661 (GRCm39)	missense	probably benign	0.20
R1472:1110002E22Rik	UTSW	3	137,773,313 (GRCm39)	missense	possibly damaging	0.95
R1538:1110002E22Rik	UTSW	3	137,771,162 (GRCm39)	missense	probably benign	0.02
R1648:1110002E22Rik	UTSW	3	137,775,181 (GRCm39)	missense	probably benign	0.18
R1800:1110002E22Rik	UTSW	3	137,772,479 (GRCm39)	missense	probably damaging	1.00
R1919:1110002E22Rik	UTSW	3	137,773,031 (GRCm39)	missense	probably damaging	0.99
R1974:1110002E22Rik	UTSW	3	137,773,028 (GRCm39)	missense	probably damaging	1.00
R1990:1110002E22Rik	UTSW	3	137,771,419 (GRCm39)	nonsense	probably null
R1991:1110002E22Rik	UTSW	3	137,771,419 (GRCm39)	nonsense	probably null
R2102:1110002E22Rik	UTSW	3	137,770,934 (GRCm39)	missense	probably damaging	0.99
R2761:1110002E22Rik	UTSW	3	137,773,541 (GRCm39)	missense	probably damaging	0.99
R2899:1110002E22Rik	UTSW	3	137,771,443 (GRCm39)	missense	probably benign	0.00
R3618:1110002E22Rik	UTSW	3	137,774,168 (GRCm39)	missense	probably damaging	1.00
R3904:1110002E22Rik	UTSW	3	137,772,400 (GRCm39)	missense	probably benign	0.15
R3955:1110002E22Rik	UTSW	3	137,773,834 (GRCm39)	missense	probably benign	0.00
R4520:1110002E22Rik	UTSW	3	137,776,027 (GRCm39)	missense	probably damaging	0.99
R4619:1110002E22Rik	UTSW	3	137,775,520 (GRCm39)	missense	probably damaging	0.99
R4736:1110002E22Rik	UTSW	3	137,774,246 (GRCm39)	missense	probably damaging	0.99
R4752:1110002E22Rik	UTSW	3	137,775,751 (GRCm39)	missense	possibly damaging	0.91
R4777:1110002E22Rik	UTSW	3	137,771,503 (GRCm39)	missense	probably benign	0.09
R4780:1110002E22Rik	UTSW	3	137,771,131 (GRCm39)	missense	probably benign	0.02
R4824:1110002E22Rik	UTSW	3	137,771,437 (GRCm39)	missense	probably benign	0.00
R4829:1110002E22Rik	UTSW	3	137,774,780 (GRCm39)	missense	probably damaging	0.99
R4965:1110002E22Rik	UTSW	3	137,775,433 (GRCm39)	missense	probably benign
R5206:1110002E22Rik	UTSW	3	137,772,272 (GRCm39)	missense	probably benign	0.00
R5212:1110002E22Rik	UTSW	3	137,771,611 (GRCm39)	missense	possibly damaging	0.85
R5373:1110002E22Rik	UTSW	3	137,773,396 (GRCm39)	missense	probably benign
R5374:1110002E22Rik	UTSW	3	137,773,396 (GRCm39)	missense	probably benign
R5506:1110002E22Rik	UTSW	3	137,773,708 (GRCm39)	missense	probably damaging	1.00
R5528:1110002E22Rik	UTSW	3	137,772,260 (GRCm39)	missense	probably benign
R5536:1110002E22Rik	UTSW	3	137,772,149 (GRCm39)	missense	possibly damaging	0.89
R5587:1110002E22Rik	UTSW	3	137,771,170 (GRCm39)	missense	probably benign
R5759:1110002E22Rik	UTSW	3	137,774,419 (GRCm39)	missense	probably benign
R5933:1110002E22Rik	UTSW	3	137,776,109 (GRCm39)	missense	probably damaging	1.00
R5957:1110002E22Rik	UTSW	3	137,775,922 (GRCm39)	missense	probably benign
R6092:1110002E22Rik	UTSW	3	137,774,701 (GRCm39)	missense	probably benign	0.02
R6305:1110002E22Rik	UTSW	3	137,773,741 (GRCm39)	missense	probably damaging	1.00
R6457:1110002E22Rik	UTSW	3	137,772,383 (GRCm39)	missense	probably damaging	1.00
R6469:1110002E22Rik	UTSW	3	137,772,736 (GRCm39)	missense	probably damaging	0.97
R6499:1110002E22Rik	UTSW	3	137,774,561 (GRCm39)	missense	probably damaging	1.00
R6527:1110002E22Rik	UTSW	3	137,773,288 (GRCm39)	missense	probably damaging	0.99
R6580:1110002E22Rik	UTSW	3	137,772,386 (GRCm39)	missense	probably benign	0.00
R6693:1110002E22Rik	UTSW	3	137,774,915 (GRCm39)	missense	probably benign	0.00
R6751:1110002E22Rik	UTSW	3	137,771,971 (GRCm39)	missense	probably damaging	1.00
R6852:1110002E22Rik	UTSW	3	137,770,930 (GRCm39)	nonsense	probably null
R6920:1110002E22Rik	UTSW	3	137,773,811 (GRCm39)	missense	probably damaging	1.00
R7001:1110002E22Rik	UTSW	3	137,771,272 (GRCm39)	missense	probably benign
R7145:1110002E22Rik	UTSW	3	137,775,820 (GRCm39)	missense	probably damaging	1.00
R7238:1110002E22Rik	UTSW	3	137,775,712 (GRCm39)	missense	probably damaging	1.00
R7278:1110002E22Rik	UTSW	3	137,771,237 (GRCm39)	missense	probably benign
R7425:1110002E22Rik	UTSW	3	137,771,456 (GRCm39)	missense	probably benign	0.00
R7487:1110002E22Rik	UTSW	3	137,772,629 (GRCm39)	missense	probably damaging	1.00
R7557:1110002E22Rik	UTSW	3	137,774,044 (GRCm39)	nonsense	probably null
R7663:1110002E22Rik	UTSW	3	137,771,887 (GRCm39)	missense	probably damaging	0.98
R7743:1110002E22Rik	UTSW	3	137,774,516 (GRCm39)	missense	probably damaging	1.00
R7799:1110002E22Rik	UTSW	3	137,775,362 (GRCm39)	missense	probably benign	0.33
R8181:1110002E22Rik	UTSW	3	137,774,156 (GRCm39)	missense	probably damaging	0.99
R8264:1110002E22Rik	UTSW	3	137,773,543 (GRCm39)	missense	probably damaging	0.99
R8273:1110002E22Rik	UTSW	3	137,772,211 (GRCm39)	missense	probably benign
R8434:1110002E22Rik	UTSW	3	137,773,021 (GRCm39)	missense	probably damaging	0.97
R8530:1110002E22Rik	UTSW	3	137,774,586 (GRCm39)	missense	probably damaging	0.99
R8754:1110002E22Rik	UTSW	3	137,771,798 (GRCm39)	missense	probably benign
R8808:1110002E22Rik	UTSW	3	137,775,874 (GRCm39)	missense	probably benign	0.01
R8891:1110002E22Rik	UTSW	3	137,772,520 (GRCm39)	nonsense	probably null
R9026:1110002E22Rik	UTSW	3	137,770,909 (GRCm39)	missense	possibly damaging	0.53
R9177:1110002E22Rik	UTSW	3	137,775,677 (GRCm39)	missense	probably damaging	1.00
R9250:1110002E22Rik	UTSW	3	137,772,389 (GRCm39)	missense	probably damaging	1.00
R9291:1110002E22Rik	UTSW	3	137,772,464 (GRCm39)	missense	probably benign	0.02
R9293:1110002E22Rik	UTSW	3	137,771,839 (GRCm39)	missense	possibly damaging	0.93
R9307:1110002E22Rik	UTSW	3	137,771,183 (GRCm39)	missense	probably benign	0.04
R9439:1110002E22Rik	UTSW	3	137,772,048 (GRCm39)	missense	probably benign	0.00
R9509:1110002E22Rik	UTSW	3	137,771,595 (GRCm39)	small deletion	probably benign
R9582:1110002E22Rik	UTSW	3	137,772,766 (GRCm39)	missense	probably damaging	0.99
R9599:1110002E22Rik	UTSW	3	137,774,267 (GRCm39)	missense	probably benign	0.16
R9613:1110002E22Rik	UTSW	3	137,771,126 (GRCm39)	missense	probably damaging	0.98
X0003:1110002E22Rik	UTSW	3	137,774,857 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCCTCAAGTGTAGTTTCGATATGAC -3'
(R):5'- AGGTACCACTGCCACAGTTG -3'

Sequencing Primer
(F):5'- TTTCGATATGACTAGGGAATGGACAC -3'
(R):5'- CTGCCACAGTTGCCACC -3'

Posted On

2022-10-06