Mutagenetix > Incidental Mutation

Incidental Mutation 'R6083:2810021J22Rik'

482319

Institutional Source

Beutler Lab

Gene Symbol

2810021J22Rik

Ensembl Gene

ENSMUSG00000020491

Gene Name

RIKEN cDNA 2810021J22 gene

Synonyms

MMRRC Submission

044242-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R6083 (G1)

Quality Score

194.009

Status

Validated

Chromosome

Chromosomal Location

58758042-58774114 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 58769677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 73 (P73Q)

Ref Sequence

ENSEMBL: ENSMUSP00000073579 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073924] [ENSMUST00000132570]

AlphaFold

Q8BIB6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073924
AA Change: P73Q

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000073579
Gene: ENSMUSG00000020491
AA Change: P73Q

Domain	Start	End	E-Value	Type
KRAB	8	68	2.38e-30	SMART
ZnF_C2H2	242	264	1.68e1	SMART
ZnF_C2H2	370	392	1.56e-2	SMART
ZnF_C2H2	398	420	1.03e-2	SMART
ZnF_C2H2	426	448	1.38e-3	SMART
ZnF_C2H2	454	476	3.16e-3	SMART
ZnF_C2H2	482	504	1.6e-4	SMART
ZnF_C2H2	510	532	7.78e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132570

SMART Domains

Protein: ENSMUSP00000120692
Gene: ENSMUSG00000020491

Domain	Start	End	E-Value	Type
KRAB	8	64	2.25e-17	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

96% (76/79)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	A	T	6: 86,940,978 (GRCm39)	I591F	unknown	Het
Ace	C	A	11: 105,876,093 (GRCm39)	Y816*	probably null	Het
Ahnak2	A	G	12: 112,746,715 (GRCm39)	V1205A	probably benign	Het
Ahnak2	T	G	12: 112,746,589 (GRCm39)	Q1076P	probably benign	Het
Ap2a1	G	A	7: 44,557,175 (GRCm39)	R263W	probably damaging	Het
Arhgap29	A	G	3: 121,786,397 (GRCm39)	T257A	probably benign	Het
Bora	A	T	14: 99,299,730 (GRCm39)	Q234L	possibly damaging	Het
Ccdc17	A	T	4: 116,454,123 (GRCm39)	Q47L	possibly damaging	Het
Cep170	C	T	1: 176,602,191 (GRCm39)	R305H	probably damaging	Het
Cyb5r4	C	T	9: 86,939,221 (GRCm39)	P335S	probably damaging	Het
Cyp2c54	A	G	19: 40,062,206 (GRCm39)	L17P	probably benign	Het
Cyp2c69	A	T	19: 39,837,900 (GRCm39)	V394E	probably damaging	Het
Dedd2	G	A	7: 24,910,715 (GRCm39)	P154S	probably benign	Het
Defb36	A	T	2: 152,446,408 (GRCm39)	M1L	unknown	Het
Dnaja1	A	G	4: 40,731,713 (GRCm39)	D263G	probably benign	Het
Dock10	T	C	1: 80,510,148 (GRCm39)	N1560S	probably damaging	Het
Efnb2	T	C	8: 8,672,328 (GRCm39)		probably null	Het
Eif3e	A	G	15: 43,129,540 (GRCm39)	I196T	probably damaging	Het
Ercc4	T	A	16: 12,927,903 (GRCm39)	C24*	probably null	Het
Fmn1	A	G	2: 113,194,648 (GRCm39)	E116G	unknown	Het
Gnas	A	G	2: 174,139,655 (GRCm39)	M1V	probably null	Het
Grin2a	C	A	16: 9,397,404 (GRCm39)	M894I	probably benign	Het
Herc2	G	T	7: 55,878,253 (GRCm39)	S4566I	probably benign	Het
Hmcn1	G	A	1: 150,631,044 (GRCm39)	P918L	probably damaging	Het
Hmcn1	G	T	1: 150,631,045 (GRCm39)	P918T	probably damaging	Het
Hsd3b2	T	A	3: 98,619,372 (GRCm39)	Y191F	possibly damaging	Het
Ifit1bl2	A	C	19: 34,597,217 (GRCm39)	F133C	possibly damaging	Het
Itih2	T	C	2: 10,113,705 (GRCm39)		probably benign	Het
Itsn1	T	C	16: 91,649,899 (GRCm39)	L191P	probably benign	Het
Kdr	T	C	5: 76,105,026 (GRCm39)	K1068R	probably damaging	Het
Lmtk2	T	C	5: 144,119,574 (GRCm39)	L1345P	probably damaging	Het
Man2b2	T	A	5: 36,966,385 (GRCm39)	D936V	probably damaging	Het
Mapk1ip1	G	A	7: 138,438,317 (GRCm39)	R38*	probably null	Het
Med13l	T	C	5: 118,859,551 (GRCm39)	V246A	possibly damaging	Het
Mlec	T	A	5: 115,286,108 (GRCm39)	T248S	probably benign	Het
Mslnl	T	A	17: 25,956,876 (GRCm39)	V54D	possibly damaging	Het
Muc16	G	A	9: 18,568,508 (GRCm39)	T1337I	unknown	Het
Nek7	C	T	1: 138,443,392 (GRCm39)	S187N	probably damaging	Het
Neto2	A	G	8: 86,367,214 (GRCm39)	V538A	probably benign	Het
Nktr	T	C	9: 121,579,202 (GRCm39)		probably benign	Het
Npy6r	A	G	18: 44,409,559 (GRCm39)	K327E	probably damaging	Het
Or2ag1	A	G	7: 106,472,789 (GRCm39)	I221T	probably damaging	Het
Or3a1c	A	G	11: 74,046,396 (GRCm39)	M139V	possibly damaging	Het
Or4a72	T	C	2: 89,406,016 (GRCm39)	D18G	probably benign	Het
Or4c123	T	A	2: 89,127,368 (GRCm39)	D82V	probably damaging	Het
Or5b109	A	T	19: 13,211,889 (GRCm39)	I92F	probably benign	Het
Pcdhga4	A	T	18: 37,820,478 (GRCm39)	N676Y	probably damaging	Het
Pde2a	T	C	7: 101,152,086 (GRCm39)	I331T	possibly damaging	Het
Pip5k1b	A	T	19: 24,281,399 (GRCm39)	Y486*	probably null	Het
Plch2	A	G	4: 155,085,275 (GRCm39)	M272T	probably benign	Het
Rbm12	G	A	2: 155,939,646 (GRCm39)		probably benign	Het
Rgs19	T	C	2: 181,331,300 (GRCm39)	E111G	probably damaging	Het
Rhbdf1	T	C	11: 32,160,066 (GRCm39)	N145S	probably damaging	Het
Rnf4	T	A	5: 34,508,565 (GRCm39)		probably null	Het
Rpa1	T	C	11: 75,205,737 (GRCm39)	T207A	probably damaging	Het
Rufy4	A	C	1: 74,168,556 (GRCm39)	Q113P	probably damaging	Het
Sh3pxd2b	T	G	11: 32,372,985 (GRCm39)	S717R	probably benign	Het
Sin3a	A	T	9: 57,014,824 (GRCm39)	I682F	probably damaging	Het
Sipa1l2	A	T	8: 126,195,212 (GRCm39)	V842E	possibly damaging	Het
Slc5a4a	A	G	10: 75,983,431 (GRCm39)	I23V	unknown	Het
Slitrk5	A	G	14: 111,919,157 (GRCm39)	N927S	probably benign	Het
Smc6	A	G	12: 11,326,354 (GRCm39)	K117R	possibly damaging	Het
Sod2	G	A	17: 13,226,918 (GRCm39)		probably benign	Het
Stxbp1	A	G	2: 32,686,030 (GRCm39)	I567T	possibly damaging	Het
Tbkbp1	C	A	11: 97,038,206 (GRCm39)	L209F	probably damaging	Het
Tll1	G	T	8: 64,491,620 (GRCm39)		probably null	Het
Tmem38b	T	C	4: 53,840,765 (GRCm39)	L60S	probably damaging	Het
Trib1	G	A	15: 59,526,324 (GRCm39)	R298H	probably damaging	Het
Trim30b	A	G	7: 104,015,349 (GRCm39)	V13A	probably damaging	Het
Trip11	G	A	12: 101,856,001 (GRCm39)	T425I	probably benign	Het
Ttn	C	A	2: 76,720,317 (GRCm39)		probably benign	Het
Tymp	GC	GCC	15: 89,258,567 (GRCm39)		probably null	Het
Ush2a	T	A	1: 187,999,220 (GRCm39)	S177T	probably damaging	Het
Usp40	A	T	1: 87,906,281 (GRCm39)	S651R	probably benign	Het
Vmn1r125	T	C	7: 21,006,644 (GRCm39)	S181P	probably damaging	Het
Vmn1r198	T	A	13: 22,538,928 (GRCm39)	V138D	possibly damaging	Het
Vmn1r56	A	G	7: 5,199,317 (GRCm39)	L100P	probably damaging	Het
Vmn2r32	T	A	7: 7,467,209 (GRCm39)	D773V	probably benign	Het
Vmn2r53	A	C	7: 12,315,808 (GRCm39)	H670Q	probably benign	Het
Vmn2r69	A	T	7: 85,055,711 (GRCm39)	I809N	probably damaging	Het
Wdr7	G	A	18: 63,861,540 (GRCm39)	G184D	probably damaging	Het
Wnk1	C	T	6: 120,014,562 (GRCm39)	G11D	probably damaging	Het
Zfp110	A	C	7: 12,578,602 (GRCm39)	E171A	possibly damaging	Het
Zkscan6	T	C	11: 65,706,757 (GRCm39)	V134A	probably damaging	Het

Other mutations in 2810021J22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00983:2810021J22Rik	APN	11	58,771,438 (GRCm39)	nonsense	probably null
IGL01784:2810021J22Rik	APN	11	58,771,445 (GRCm39)	missense	possibly damaging	0.89
IGL02287:2810021J22Rik	APN	11	58,771,418 (GRCm39)	missense	probably benign	0.00
IGL03281:2810021J22Rik	APN	11	58,771,601 (GRCm39)	missense	probably benign	0.01
H8562:2810021J22Rik	UTSW	11	58,771,717 (GRCm39)	missense	probably damaging	1.00
R0480:2810021J22Rik	UTSW	11	58,771,012 (GRCm39)	missense	probably damaging	0.99
R1148:2810021J22Rik	UTSW	11	58,767,544 (GRCm39)	missense	probably damaging	0.97
R1148:2810021J22Rik	UTSW	11	58,767,544 (GRCm39)	missense	probably damaging	0.97
R1493:2810021J22Rik	UTSW	11	58,767,544 (GRCm39)	missense	probably damaging	0.97
R1565:2810021J22Rik	UTSW	11	58,771,327 (GRCm39)	missense	probably benign	0.00
R1676:2810021J22Rik	UTSW	11	58,771,819 (GRCm39)	missense	possibly damaging	0.70
R2070:2810021J22Rik	UTSW	11	58,767,595 (GRCm39)	missense	probably damaging	0.98
R2071:2810021J22Rik	UTSW	11	58,767,595 (GRCm39)	missense	probably damaging	0.98
R4402:2810021J22Rik	UTSW	11	58,771,020 (GRCm39)	missense	probably benign	0.01
R4541:2810021J22Rik	UTSW	11	58,769,676 (GRCm39)	missense	probably benign	0.16
R4685:2810021J22Rik	UTSW	11	58,771,750 (GRCm39)	missense	probably damaging	0.97
R4765:2810021J22Rik	UTSW	11	58,771,987 (GRCm39)	missense	probably benign	0.09
R4968:2810021J22Rik	UTSW	11	58,769,616 (GRCm39)	nonsense	probably null
R5282:2810021J22Rik	UTSW	11	58,771,166 (GRCm39)	missense	possibly damaging	0.84
R5519:2810021J22Rik	UTSW	11	58,770,923 (GRCm39)	missense	probably benign
R6134:2810021J22Rik	UTSW	11	58,767,619 (GRCm39)	missense	probably damaging	1.00
R6334:2810021J22Rik	UTSW	11	58,770,940 (GRCm39)	missense	probably benign
R7108:2810021J22Rik	UTSW	11	58,771,750 (GRCm39)	missense	probably damaging	0.97
R7288:2810021J22Rik	UTSW	11	58,771,131 (GRCm39)	missense	probably benign	0.03
R7310:2810021J22Rik	UTSW	11	58,771,094 (GRCm39)	missense	possibly damaging	0.89
R7422:2810021J22Rik	UTSW	11	58,771,885 (GRCm39)	missense	probably damaging	1.00
R7829:2810021J22Rik	UTSW	11	58,770,823 (GRCm39)	missense	not run
R8237:2810021J22Rik	UTSW	11	58,771,373 (GRCm39)	missense	probably damaging	1.00
R8303:2810021J22Rik	UTSW	11	58,770,966 (GRCm39)	missense	probably benign	0.00
R9453:2810021J22Rik	UTSW	11	58,771,054 (GRCm39)	missense	probably benign	0.01
Z1177:2810021J22Rik	UTSW	11	58,770,929 (GRCm39)	missense	probably damaging	0.99
Z1186:2810021J22Rik	UTSW	11	58,771,361 (GRCm39)	missense	probably benign	0.00
Z1187:2810021J22Rik	UTSW	11	58,771,361 (GRCm39)	missense	probably benign	0.00
Z1188:2810021J22Rik	UTSW	11	58,771,361 (GRCm39)	missense	probably benign	0.00
Z1189:2810021J22Rik	UTSW	11	58,771,361 (GRCm39)	missense	probably benign	0.00
Z1190:2810021J22Rik	UTSW	11	58,771,361 (GRCm39)	missense	probably benign	0.00
Z1191:2810021J22Rik	UTSW	11	58,771,361 (GRCm39)	missense	probably benign	0.00
Z1192:2810021J22Rik	UTSW	11	58,771,361 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCCACGTTCTCATAGAGTG -3'
(R):5'- CAGAGTTTGCTGAGCCTGTG -3'

Posted On

2017-07-14