Mutagenetix > Incidental Mutation

Incidental Mutation 'R6334:2810021J22Rik'

510715

Institutional Source

Beutler Lab

Gene Symbol

2810021J22Rik

Ensembl Gene

ENSMUSG00000020491

Gene Name

RIKEN cDNA 2810021J22 gene

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R6334 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58867216-58883288 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58880114 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 141 (S141T)

Ref Sequence

ENSEMBL: ENSMUSP00000073579 (fasta)

Gene Model

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

AlphaFold

Q8BIB6

Predicted Effect

probably benign
Transcript: ENSMUST00000073924
AA Change: S141T

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

SMART Domains

Protein: ENSMUSP00000073579
Gene: ENSMUSG00000020491
AA Change: S141T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l2	A	G	19: 56,917,976		probably null	Het
Aox2	C	T	1: 58,307,407	Q567*	probably null	Het
Aqp4	T	A	18: 15,393,591	M278L	probably benign	Het
Atp23	A	C	10: 126,887,669	L188R	probably benign	Het
B230359F08Rik	A	G	14: 53,795,942	T103A	probably damaging	Het
Catsperg1	C	T	7: 29,206,357	G215D	probably benign	Het
Cavin4	T	C	4: 48,663,824	V68A	possibly damaging	Het
Ccl4	T	C	11: 83,662,678	S6P	unknown	Het
Cfap46	T	C	7: 139,680,831	E117G	probably damaging	Het
Chek1	A	G	9: 36,714,492	S286P	possibly damaging	Het
Cntn4	G	A	6: 106,344,786	V35I	probably benign	Het
Cntn4	C	A	6: 106,506,192	P236Q	probably benign	Het
Cyp2d40	C	A	15: 82,761,552	G84V	probably benign	Het
Dnah12	A	T	14: 26,706,834	H205L	possibly damaging	Het
Dock1	G	A	7: 134,851,576	V845I	probably benign	Het
Drg1	T	C	11: 3,266,292	K7E	possibly damaging	Het
Eloa	G	A	4: 136,009,822	P488S	probably damaging	Het
Evi5	G	A	5: 107,820,521	R187*	probably null	Het
Fam53a	T	A	5: 33,600,875	L301F	probably damaging	Het
Fmnl3	T	C	15: 99,337,653	K63E	probably damaging	Het
Gast	C	A	11: 100,336,612	Q44K	probably benign	Het
Gm4788	A	G	1: 139,773,924		probably null	Het
Gng10	T	A	4: 59,035,257	V7E	probably benign	Het
Gtf3c5	G	A	2: 28,570,462	T375I	probably benign	Het
Haus5	C	T	7: 30,658,976	W298*	probably null	Het
Hspa14	A	T	2: 3,489,072		probably null	Het
Kcna3	T	C	3: 107,036,424	M1T	probably null	Het
Kcnj15	T	G	16: 95,296,236	L239R	probably damaging	Het
Klhl2	G	T	8: 64,759,808	D232E	probably benign	Het
Lamb3	A	T	1: 193,335,474	I888F	probably damaging	Het
Lars	C	A	18: 42,217,486	M919I	probably benign	Het
Lfng	T	C	5: 140,612,767	V247A	possibly damaging	Het
Lrp1b	C	T	2: 41,789,033	A16T	probably benign	Het
Mamdc2	A	T	19: 23,363,906	I235N	probably damaging	Het
Map9	T	A	3: 82,383,305	L492Q	probably damaging	Het
Mcpt8	A	G	14: 56,085,147	V14A	possibly damaging	Het
Myo1b	T	C	1: 51,768,651	K823R	probably null	Het
Nbea	G	T	3: 56,037,149	T598K	probably damaging	Het
Nrcam	C	A	12: 44,572,300	H877N	probably benign	Het
Nrxn2	T	C	19: 6,531,292		probably null	Het
Nwd2	A	T	5: 63,800,253	I309F	possibly damaging	Het
Phyhd1	G	A	2: 30,274,724		probably null	Het
Pkp2	C	T	16: 16,226,069	T229I	probably damaging	Het
Plagl2	G	A	2: 153,232,691	P97S	probably benign	Het
Plekhh2	C	A	17: 84,566,866	N526K	probably benign	Het
Plin4	A	G	17: 56,103,261	L1217P	probably benign	Het
Polr3e	T	C	7: 120,927,999	S67P	possibly damaging	Het
Postn	A	G	3: 54,385,282	K757E	probably benign	Het
Prpf39	T	A	12: 65,042,813		probably null	Het
Ptprg	C	T	14: 12,166,832	T745I	probably damaging	Het
Pxylp1	C	G	9: 96,825,254	A292P	probably damaging	Het
Rpl35	G	T	2: 39,001,742	D82E	possibly damaging	Het
Slc9a1	G	A	4: 133,422,208	V782I	possibly damaging	Het
Syn2	T	A	6: 115,263,914	M415K	possibly damaging	Het
Tmem117	A	C	15: 95,011,443	I246L	probably benign	Het
Tmem221	A	T	8: 71,558,784	V9E	probably damaging	Het
Ubxn7	T	A	16: 32,372,189		probably null	Het
Vmn2r101	G	T	17: 19,589,850	M299I	possibly damaging	Het
Vmn2r103	T	A	17: 19,794,082	S379T	probably damaging	Het
Vmn2r109	T	C	17: 20,541,178	N639S	probably benign	Het
Wdr26	T	C	1: 181,203,206			Het
Zfp109	T	A	7: 24,228,883	Y367F	probably damaging	Het
Zfp143	G	A	7: 110,086,131	C389Y	probably damaging	Het
Zfp553	G	T	7: 127,236,892		probably null	Het

Other mutations in 2810021J22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00983:2810021J22Rik	APN	11	58880612	nonsense	probably null
IGL01784:2810021J22Rik	APN	11	58880619	missense	possibly damaging	0.89
IGL02287:2810021J22Rik	APN	11	58880592	missense	probably benign	0.00
IGL03281:2810021J22Rik	APN	11	58880775	missense	probably benign	0.01
H8562:2810021J22Rik	UTSW	11	58880891	missense	probably damaging	1.00
R0480:2810021J22Rik	UTSW	11	58880186	missense	probably damaging	0.99
R1148:2810021J22Rik	UTSW	11	58876718	missense	probably damaging	0.97
R1148:2810021J22Rik	UTSW	11	58876718	missense	probably damaging	0.97
R1493:2810021J22Rik	UTSW	11	58876718	missense	probably damaging	0.97
R1565:2810021J22Rik	UTSW	11	58880501	missense	probably benign	0.00
R1676:2810021J22Rik	UTSW	11	58880993	missense	possibly damaging	0.70
R2070:2810021J22Rik	UTSW	11	58876769	missense	probably damaging	0.98
R2071:2810021J22Rik	UTSW	11	58876769	missense	probably damaging	0.98
R4402:2810021J22Rik	UTSW	11	58880194	missense	probably benign	0.01
R4541:2810021J22Rik	UTSW	11	58878850	missense	probably benign	0.16
R4685:2810021J22Rik	UTSW	11	58880924	missense	probably damaging	0.97
R4765:2810021J22Rik	UTSW	11	58881161	missense	probably benign	0.09
R4968:2810021J22Rik	UTSW	11	58878790	nonsense	probably null
R5282:2810021J22Rik	UTSW	11	58880340	missense	possibly damaging	0.84
R5519:2810021J22Rik	UTSW	11	58880097	missense	probably benign
R6083:2810021J22Rik	UTSW	11	58878851	missense	possibly damaging	0.73
R6134:2810021J22Rik	UTSW	11	58876793	missense	probably damaging	1.00
R7108:2810021J22Rik	UTSW	11	58880924	missense	probably damaging	0.97
R7288:2810021J22Rik	UTSW	11	58880305	missense	probably benign	0.03
R7310:2810021J22Rik	UTSW	11	58880268	missense	possibly damaging	0.89
R7422:2810021J22Rik	UTSW	11	58881059	missense	probably damaging	1.00
R7829:2810021J22Rik	UTSW	11	58879997	missense	not run
R8237:2810021J22Rik	UTSW	11	58880547	missense	probably damaging	1.00
R8303:2810021J22Rik	UTSW	11	58880140	missense	probably benign	0.00
R9453:2810021J22Rik	UTSW	11	58880228	missense	probably benign	0.01
Z1177:2810021J22Rik	UTSW	11	58880103	missense	probably damaging	0.99
Z1186:2810021J22Rik	UTSW	11	58880535	missense	probably benign	0.00
Z1187:2810021J22Rik	UTSW	11	58880535	missense	probably benign	0.00
Z1188:2810021J22Rik	UTSW	11	58880535	missense	probably benign	0.00
Z1189:2810021J22Rik	UTSW	11	58880535	missense	probably benign	0.00
Z1190:2810021J22Rik	UTSW	11	58880535	missense	probably benign	0.00
Z1191:2810021J22Rik	UTSW	11	58880535	missense	probably benign	0.00
Z1192:2810021J22Rik	UTSW	11	58880535	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGCAGCCTATGAAGAGTCTG -3'
(R):5'- CACTGTACGCGTCCATACAG -3'

Sequencing Primer
(F):5'- CCTATGAAGAGTCTGAAGGAAGCC -3'
(R):5'- GTCCATACAGTGCGCACATCG -3'

Posted On

2018-04-02