Mutagenetix > Incidental Mutation

Incidental Mutation 'R9439:1110002E22Rik'

713421

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: 0.544) question?

Stock #

R9439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138065052-138081506 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 138066287 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 412 (E412D)

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: E412D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: E412D

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,956,292	V415D	probably damaging	Het
Ache	A	C	5: 137,290,923	D297A	probably damaging	Het
Armc9	T	C	1: 86,156,965	I4T	possibly damaging	Het
Atp8b2	T	A	3: 89,944,185	Y925F		Het
Avpr1b	T	C	1: 131,600,291	L184P	probably damaging	Het
Cabin1	G	A	10: 75,745,235	P419L	probably damaging	Het
Ccdc88c	T	C	12: 100,918,338	S1578G	probably benign	Het
Ccnd2	A	T	6: 127,150,654	C40*	probably null	Het
Col6a3	A	T	1: 90,816,433	I471N	probably damaging	Het
Cp	A	G	3: 19,992,507		probably null	Het
Cyfip2	C	T	11: 46,200,841	R1084Q	probably damaging	Het
D11Wsu47e	C	T	11: 113,692,403	Q519*	probably null	Het
Diaph1	A	G	18: 37,896,359		probably null	Het
Dnah6	T	C	6: 73,035,347	N3713S	possibly damaging	Het
Dot1l	G	T	10: 80,785,604	R633L	possibly damaging	Het
Ehmt1	A	T	2: 24,825,018	M809K	probably damaging	Het
Fcgbp	C	A	7: 28,104,011	A1680E	possibly damaging	Het
Flt1	A	G	5: 147,578,397	F1072L	probably damaging	Het
Gm19410	G	T	8: 35,781,656	A549S	probably damaging	Het
Gnat1	A	T	9: 107,676,312	I249N		Het
Gp2	T	C	7: 119,454,210	Y176C	probably damaging	Het
Gpc2	G	T	5: 138,278,986	Q60K	probably benign	Het
Gpsm2	T	A	3: 108,703,081	E21V	probably damaging	Het
Igkv4-80	T	A	6: 69,016,809	M33L	probably benign	Het
Il20ra	C	A	10: 19,743,003	H66Q	probably benign	Het
Kap	C	T	6: 133,851,987	D61N	probably benign	Het
Magi3	C	T	3: 104,015,157	A1415T	probably benign	Het
Mpp7	A	T	18: 7,461,692	Y60*	probably null	Het
Neil1	T	A	9: 57,143,814	R294*	probably null	Het
Nkx6-3	A	G	8: 23,153,762	S60G	probably benign	Het
Noc2l	T	A	4: 156,241,673	S406T	possibly damaging	Het
Olfr113	A	G	17: 37,574,934	I163T	probably benign	Het
Olfr279	T	C	15: 98,498,366	V298A	possibly damaging	Het
Olfr325	T	C	11: 58,581,278	C145R	probably benign	Het
Olfr510	T	C	7: 108,667,419	M1T	probably null	Het
Olfr616	T	G	7: 103,564,842	I146L	probably benign	Het
Olfr92	A	G	17: 37,111,313	V223A	probably damaging	Het
Paqr4	A	G	17: 23,739,965	F21L	probably damaging	Het
Pcdha9	A	G	18: 36,998,474	T199A	probably benign	Het
Pcdhgb7	T	C	18: 37,751,864	L29P	probably benign	Het
Pfkl	G	A	10: 77,995,338	A323V	probably damaging	Het
Pik3r4	C	A	9: 105,650,842	P465T	probably damaging	Het
Pitpnm2	A	G	5: 124,136,126	S307P	probably damaging	Het
Pitpnm2	A	G	5: 124,140,596	Y191H	probably damaging	Het
Plod3	G	A	5: 136,994,182	V613I	probably benign	Het
Prr23a2	C	T	9: 98,856,868	T93I	probably damaging	Het
Ptk6	T	A	2: 181,198,413	M267L	possibly damaging	Het
Rabl6	C	T	2: 25,602,420		probably null	Het
Ralgapa2	T	C	2: 146,412,138	H787R	probably benign	Het
Rfx8	T	G	1: 39,685,509	M231L	probably benign	Het
Rnf126	A	T	10: 79,761,631	I149N	probably damaging	Het
Smpd4	A	G	16: 17,641,587	I625V	probably benign	Het
Tcf7l1	A	G	6: 72,788,757	S66P	probably damaging	Het
Tsc22d1	G	A	14: 76,506,459	V1007M	probably damaging	Het
Tspoap1	C	T	11: 87,774,709	R758C	probably damaging	Het
Vmn1r210	A	C	13: 22,827,227	H296Q	possibly damaging	Het
Zfp532	G	A	18: 65,685,643	V857I	probably benign	Het
Zfyve9	T	C	4: 108,644,341	T593A	probably benign	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
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
R9509:1110002E22Rik	UTSW	3	138065834	small deletion	probably benign
R9582:1110002E22Rik	UTSW	3	138067005	missense	probably damaging	0.99
R9599:1110002E22Rik	UTSW	3	138068506	missense	probably benign	0.16
R9613:1110002E22Rik	UTSW	3	138065365	missense	probably damaging	0.98
R9670:1110002E22Rik	UTSW	3	138065133	missense	probably benign
X0003:1110002E22Rik	UTSW	3	138069096	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGAGAAACGAGGATGCAC -3'
(R):5'- TGACAGGAGGATCTGGCTTG -3'

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

Posted On

2022-05-16