Mutagenetix > Incidental Mutations

Incidental Mutation 'R9177:1110002E22Rik'

696733

Institutional Source

Beutler Lab

Gene Symbol

1110002E22Rik

Ensembl Gene

ENSMUSG00000090066

Gene Name

RIKEN cDNA 1110002E22 gene

Synonyms

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.680) question?

Stock #

R9177 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138065052-138081506 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 138069916 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 1622 (V1622D)

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: V1622D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: V1622D

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadsb	C	T	7: 131,432,034	T260I	probably damaging	Het
Acap2	A	T	16: 31,136,574	V161E	probably damaging	Het
Alk	T	C	17: 71,874,195	T1367A	probably damaging	Het
Atg2a	A	C	19: 6,241,875	H27P	probably damaging	Het
Atp2c1	C	T	9: 105,459,659		probably null	Het
C1s1	T	G	6: 124,531,403	K542N	probably damaging	Het
Camk1d	A	G	2: 5,299,090	S351P	probably benign	Het
Carf	C	A	1: 60,109,399	Q85K	possibly damaging	Het
Caskin2	T	C	11: 115,807,857	N43S	probably damaging	Het
Cd40	T	C	2: 165,063,545	C161R	probably damaging	Het
Cdh19	A	G	1: 110,949,381	F76S	probably damaging	Het
Cdkl1	T	C	12: 69,747,326	N346D	probably benign	Het
Cdon	A	G	9: 35,469,934	D540G	probably benign	Het
Cep164	T	A	9: 45,779,762	E379V	probably damaging	Het
Clock	T	C	5: 76,229,409	N681S	probably benign	Het
Col15a1	G	C	4: 47,288,200		probably benign	Het
Col6a5	T	G	9: 105,930,953	K965N	unknown	Het
Dctn4	T	A	18: 60,526,232	M1K	probably null	Het
Dhx30	T	C	9: 110,086,682	D741G	probably damaging	Het
Dhx37	A	G	5: 125,430,894	V104A	probably benign	Het
Dnah12	A	G	14: 26,849,298	K2788R	possibly damaging	Het
Egfr	T	A	11: 16,905,410	D898E	probably damaging	Het
Eif2ak4	G	C	2: 118,441,220		probably null	Het
Eif6	A	G	2: 155,823,932	L101P	probably damaging	Het
Etaa1	A	T	11: 17,946,419	V566E	probably damaging	Het
Fam126b	T	C	1: 58,552,202	D94G	probably damaging	Het
Far2	C	T	6: 148,158,920	T257I	probably benign	Het
Fuca2	G	A	10: 13,514,819	W453*	probably null	Het
Galntl6	A	T	8: 57,857,556	Y370*	probably null	Het
Gcn1l1	T	C	5: 115,581,808	V374A	probably benign	Het
Gm11238	T	C	4: 73,657,136	S351P	probably damaging	Het
Gm884	T	A	11: 103,617,437	H1235L	unknown	Het
Hfe2	T	C	3: 96,528,565	F380L	probably benign	Het
Ifi202b	A	T	1: 173,977,383	M1K	probably null	Het
Lama4	A	G	10: 39,074,692	Y997C	probably damaging	Het
Lepr	T	A	4: 101,745,601	C195*	probably null	Het
Lrrc73	T	C	17: 46,254,609	S89P	probably benign	Het
Macf1	T	C	4: 123,473,789	E2393G	probably damaging	Het
Mdga2	T	A	12: 66,470,707	T118S	possibly damaging	Het
Mtf2	A	G	5: 108,087,083	K124R	probably benign	Het
Muc5b	T	C	7: 141,845,338	Y339H	unknown	Het
Nes	G	A	3: 87,979,705	G1757E	probably damaging	Het
Nfatc4	A	T	14: 55,827,228	I391F	probably damaging	Het
Nup93	A	T	8: 94,227,743	I23F	probably benign	Het
Olfr1197	A	C	2: 88,728,830	Y256*	probably null	Het
Olfr1499	A	T	19: 13,815,024	C189S	probably damaging	Het
Olfr183	T	G	16: 58,999,720	F12V	probably damaging	Het
Olfr220	A	C	1: 174,449,357	T245P	probably damaging	Het
Olfr828	G	T	9: 18,815,446	Q283K	probably damaging	Het
Pak7	A	C	2: 136,101,206	M338R	probably benign	Het
Papola	A	G	12: 105,799,773	E44G	probably benign	Het
Pcdh15	A	T	10: 74,643,623	E522V	probably benign	Het
Peli2	A	G	14: 48,281,470	E225G	probably benign	Het
Pla2g1b	T	G	5: 115,474,536	I117S	probably damaging	Het
Plxnd1	G	T	6: 115,966,508	Q1246K	probably benign	Het
Pole	A	G	5: 110,332,422	E1953G	probably benign	Het
Pus7l	T	C	15: 94,533,564	I395V	probably benign	Het
Shisa7	T	G	7: 4,834,334	D244A	probably damaging	Het
Slco3a1	T	C	7: 74,303,198	T538A	probably benign	Het
Syk	T	A	13: 52,612,444	N188K	probably benign	Het
Tcf20	A	G	15: 82,856,504	S249P	probably benign	Het
Tmem25	T	C	9: 44,798,232	T91A	possibly damaging	Het
Trank1	T	C	9: 111,392,511	V2772A	probably benign	Het
Ttn	A	T	2: 76,766,103	Y20155*	probably null	Het
Uchl4	C	T	9: 64,235,704	H156Y	probably benign	Het
Ulbp1	A	T	10: 7,446,392	L295Q	unknown	Het
Vwf	G	A	6: 125,604,291	A631T		Het
Zfp810	C	T	9: 22,278,640	C324Y	probably damaging	Het
Zswim8	T	C	14: 20,711,840	L227P	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
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
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
R9439:1110002E22Rik	UTSW	3	138066287	missense	probably benign	0.00
X0003:1110002E22Rik	UTSW	3	138069096	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCACCGAGAAACAGTCGTTG -3'
(R):5'- CACTGTGGGCAGAAATCCAG -3'

Sequencing Primer
(F):5'- TGTCTACCACCAGCAGGCATTG -3'
(R):5'- TCCAGGATAGATCATGTAGGTGG -3'

Posted On

2022-02-07