Mutagenetix > Incidental Mutations

Incidental Mutation 'R9026:1110002E22Rik'

686715

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 non essential (E-score: 0.401) question?

Stock #

R9026 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138065052-138081506 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 138065148 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 33 (Q33K)

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

possibly damaging
Transcript: ENSMUST00000163080
AA Change: Q33K

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: Q33K

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: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	G	16: 31,107,088	L550P	probably damaging	Het
Acsm3	A	T	7: 119,774,622	S244C	probably benign	Het
Adam28	T	A	14: 68,609,144	D740V	probably benign	Het
Adcy4	C	A	14: 55,778,969	V342L	probably damaging	Het
Adcyap1r1	A	G	6: 55,481,122	T303A	probably benign	Het
Agr2	T	C	12: 35,996,092	V74A	probably benign	Het
Akp3	A	T	1: 87,127,064	T374S	possibly damaging	Het
Ankrd36	A	T	11: 5,660,696	I1181L	probably benign	Het
Arhgap11a	A	T	2: 113,834,066	V624E	probably benign	Het
Arhgap30	A	T	1: 171,400,690	D112V	probably damaging	Het
Atp8b4	A	G	2: 126,342,963	F927L	probably benign	Het
Bend4	C	A	5: 67,427,132	G150C	unknown	Het
Cd300lg	T	A	11: 102,054,172	S403T	probably damaging	Het
Cep57l1	T	A	10: 41,731,090	Q159L	probably damaging	Het
Cipc	C	T	12: 86,952,860	T57M	probably damaging	Het
D3Ertd254e	A	G	3: 36,164,917	Y363C	possibly damaging	Het
Def8	T	C	8: 123,459,652	C377R	probably damaging	Het
Dock1	A	G	7: 135,119,017	D1285G	probably damaging	Het
Efcab10	A	G	12: 33,398,399	D77G	probably damaging	Het
Eml4	C	T	17: 83,457,050	T663M	probably damaging	Het
Ercc8	A	G	13: 108,183,855	E325G	possibly damaging	Het
Ermap	C	A	4: 119,178,043	A583S	probably damaging	Het
F13a1	C	T	13: 36,918,532	G406S	probably null	Het
Faap20	T	A	4: 155,250,969	C141S	probably benign	Het
Fam193a	A	G	5: 34,459,192	T904A	possibly damaging	Het
Fam71d	T	C	12: 78,710,323	F18S	probably benign	Het
Gas8	A	G	8: 123,533,395	D455G	probably benign	Het
Gm10334	A	G	6: 41,446,056	F4L	probably benign	Het
Gm21863	T	C	12: 19,954,520	S6P	probably damaging	Het
Gm4841	A	T	18: 60,270,916	I35N	probably damaging	Het
Grk4	T	A	5: 34,719,740	C260S	probably damaging	Het
Huwe1	G	A	X: 151,933,088	R4331Q	unknown	Het
Ighv5-6	A	G	12: 113,625,627	Y78H	probably benign	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kl	T	A	5: 150,953,026	S104T	probably benign	Het
Lyve1	C	A	7: 110,853,975	C138F	probably damaging	Het
Med27	G	A	2: 29,509,434	W92*	probably null	Het
Mrgpra4	C	A	7: 47,981,460	R131L	possibly damaging	Het
Myf5	T	C	10: 107,485,447	N162S	probably benign	Het
Myh15	G	A	16: 49,187,070	E1835K	probably damaging	Het
Myo9a	T	A	9: 59,809,474	Y486N	probably damaging	Het
Ncapg	T	A	5: 45,695,773	N860K	probably benign	Het
Nr4a3	T	C	4: 48,052,194	F316S	possibly damaging	Het
Nsd3	T	A	8: 25,682,560	S778R	probably benign	Het
Olfr1132	A	T	2: 87,635,025	C241S	probably damaging	Het
Olfr1158	A	G	2: 87,990,224	T38A	probably damaging	Het
Olfr1183	A	G	2: 88,461,852	I190V	probably damaging	Het
Olfr1224-ps1	A	T	2: 89,156,644	V177E	probably benign	Het
Olfr456	A	G	6: 42,486,861	F111L	probably damaging	Het
Olfr478	A	G	7: 108,032,079	F88S	probably damaging	Het
Olfr866	T	C	9: 20,027,048	N297D		Het
Olfr884	T	A	9: 38,047,589	Y122*	probably null	Het
Pdlim4	C	T	11: 54,055,454	G231S	probably benign	Het
Pknox2	C	T	9: 36,909,748	V273I	possibly damaging	Het
Pm20d1	A	G	1: 131,812,084	H390R	probably benign	Het
Prkg2	A	T	5: 98,966,527	D587E	probably benign	Het
Prps1l1	T	A	12: 34,985,547	D220E	possibly damaging	Het
Ptchd3	T	C	11: 121,830,856	V185A	possibly damaging	Het
Rag2	A	T	2: 101,630,149	N268I	possibly damaging	Het
Rarres2	A	G	6: 48,572,086		probably null	Het
Rrp12	T	C	19: 41,871,784	H1000R	probably benign	Het
S100a2	A	T	3: 90,591,504	Y104F	unknown	Het
Sell	A	G	1: 164,065,473	Y86C	probably damaging	Het
Serpinb6d	A	T	13: 33,667,673	T138S	possibly damaging	Het
Slamf7	T	A	1: 171,638,744	I228F	probably benign	Het
Slc11a1	G	A	1: 74,377,166	V92M	probably damaging	Het
Spi1	A	G	2: 91,082,517	N5S	unknown	Het
Stard9	G	T	2: 120,705,802	D4151Y	probably damaging	Het
Stmnd1	A	G	13: 46,299,507	T220A	probably benign	Het
Tacc2	G	T	7: 130,623,536	W650C	probably damaging	Het
Tmc5	A	G	7: 118,642,371	N429S	possibly damaging	Het
Tmem201	A	C	4: 149,728,170	L230V	probably benign	Het
Tmem222	T	C	4: 133,269,808	E94G	possibly damaging	Het
Trappc4	A	G	9: 44,404,358	F186S	probably damaging	Het
Trim17	A	G	11: 58,971,447	N435S	probably benign	Het
Trim68	A	T	7: 102,680,240	L227Q	probably damaging	Het
Tuba3b	T	G	6: 145,618,270	V14G	possibly damaging	Het
Ubr2	G	T	17: 46,934,115	H1662N	probably damaging	Het
Vps13c	T	A	9: 67,954,581	V2915E	probably damaging	Het
Vsig10	C	T	5: 117,338,258	T259I	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
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
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'- CCCTCAAGTGTAGTTTCGATATGAC -3'
(R):5'- GTAGGTACCACTGCCACAGTTG -3'

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

Posted On

2021-11-19