Mutagenetix > Incidental Mutation

Incidental Mutation 'R8237:2810021J22Rik'

637426

Institutional Source

Beutler Lab

Gene Symbol

2810021J22Rik

Ensembl Gene

ENSMUSG00000020491

Gene Name

RIKEN cDNA 2810021J22 gene

Synonyms

MMRRC Submission

067669-MU

Accession Numbers

Essential gene?

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

Stock #

R8237 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58758042-58774114 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58771373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 285 (L285P)

Ref Sequence

ENSEMBL: ENSMUSP00000073579 (fasta)

Gene Model

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

AlphaFold

Q8BIB6

Predicted Effect

probably damaging
Transcript: ENSMUST00000073924
AA Change: L285P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073579
Gene: ENSMUSG00000020491
AA Change: L285P

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: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.2%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,955,952 (GRCm39)	I1905T	probably benign	Het
Abca5	A	T	11: 110,200,981 (GRCm39)	I473K	probably benign	Het
Adgrl3	CAA	CA	5: 81,935,408 (GRCm39)		probably null	Het
Ap2a1	C	A	7: 44,550,220 (GRCm39)	R959L	probably damaging	Het
Birc6	G	C	17: 74,918,126 (GRCm39)	L1845F	probably damaging	Het
Cbs	T	C	17: 31,834,454 (GRCm39)	I512V	probably benign	Het
Ccn4	C	A	15: 66,791,083 (GRCm39)	T295N	probably benign	Het
Ceacam3	T	C	7: 16,897,082 (GRCm39)	Y683H		Het
Chd8	C	T	14: 52,450,809 (GRCm39)	S1426N	probably damaging	Het
Cog8	T	C	8: 107,782,923 (GRCm39)	D122G	probably benign	Het
Crybg1	G	A	10: 43,842,376 (GRCm39)	Q1772*	probably null	Het
Cspg4	T	C	9: 56,799,964 (GRCm39)	F1576S	probably damaging	Het
Ctse	T	A	1: 131,590,467 (GRCm39)	V63E	probably benign	Het
Dnah3	G	T	7: 119,525,636 (GRCm39)	T3917N	probably benign	Het
Dst	C	T	1: 34,208,874 (GRCm39)	T1124M	possibly damaging	Het
Fkbp10	A	G	11: 100,306,785 (GRCm39)	Q59R	probably damaging	Het
Fsip1	A	G	2: 118,063,483 (GRCm39)	S329P	probably damaging	Het
Ginm1	G	T	10: 7,668,419 (GRCm39)	S56R	unknown	Het
Gm10110	C	T	14: 90,135,677 (GRCm39)	V76M	noncoding transcript	Het
Gm6401	T	A	14: 41,787,452 (GRCm39)	I125F	probably damaging	Het
Helz2	T	C	2: 180,871,124 (GRCm39)	D2815G	possibly damaging	Het
Hes1	T	C	16: 29,886,047 (GRCm39)	V217A	probably damaging	Het
Hsd3b1	C	T	3: 98,760,426 (GRCm39)	M188I	possibly damaging	Het
Ighv1-75	T	C	12: 115,797,876 (GRCm39)		probably benign	Het
Itprid2	T	C	2: 79,487,614 (GRCm39)	S566P	probably benign	Het
Kif1b	T	A	4: 149,275,642 (GRCm39)	N1423I	probably benign	Het
Lmntd1	G	A	6: 145,373,146 (GRCm39)	T129M	probably damaging	Het
Lonrf2	T	A	1: 38,839,854 (GRCm39)	T414S	probably benign	Het
Lrp1b	T	C	2: 40,741,786 (GRCm39)	D3161G		Het
Lyst	T	C	13: 13,826,317 (GRCm39)	I1608T	probably benign	Het
Map9	C	T	3: 82,284,467 (GRCm39)	P347L	probably damaging	Het
Mixl1	G	A	1: 180,524,322 (GRCm39)	Q86*	probably null	Het
Muc5b	T	C	7: 141,411,697 (GRCm39)	S1548P	unknown	Het
Myo15b	A	G	11: 115,767,827 (GRCm39)	K1376E		Het
Nlrc5	A	G	8: 95,252,753 (GRCm39)	T105A	unknown	Het
Npepps	A	G	11: 97,139,026 (GRCm39)		probably null	Het
Nup205	T	A	6: 35,204,438 (GRCm39)	F1441L	possibly damaging	Het
Or5p69	A	C	7: 107,967,234 (GRCm39)	H179P	probably damaging	Het
Pbx4	A	G	8: 70,317,093 (GRCm39)	T117A	probably benign	Het
Phf2	T	A	13: 48,976,514 (GRCm39)	T234S	unknown	Het
Pik3r2	G	A	8: 71,224,794 (GRCm39)	A194V	probably benign	Het
Plaat1	C	A	16: 29,039,106 (GRCm39)	T62K	probably benign	Het
Plbd2	T	C	5: 120,637,114 (GRCm39)	D116G	probably damaging	Het
Plpp2	G	A	10: 79,363,294 (GRCm39)	A235V	possibly damaging	Het
Prkce	G	T	17: 86,866,646 (GRCm39)	R502L	probably damaging	Het
Psrc1	C	T	3: 108,293,930 (GRCm39)	A249V	probably damaging	Het
Ptdss1	T	C	13: 67,124,841 (GRCm39)	C347R	probably damaging	Het
Serpina1b	C	A	12: 103,785,063 (GRCm39)		probably null	Het
Spcs1	C	G	14: 30,722,658 (GRCm39)	A113P	noncoding transcript	Het
Stxbp2	C	T	8: 3,685,695 (GRCm39)	T247M		Het
Tex15	A	G	8: 34,067,427 (GRCm39)	T2286A	possibly damaging	Het
Usp45	T	G	4: 21,834,274 (GRCm39)	V736G	probably damaging	Het
Vmn2r69	A	G	7: 85,060,340 (GRCm39)	S415P	probably benign	Het
Zfp407	T	C	18: 84,578,269 (GRCm39)	E948G	possibly damaging	Het
Zfp942	A	T	17: 22,147,226 (GRCm39)	C468S	possibly damaging	Het
Zmym6	A	G	4: 127,016,544 (GRCm39)	E775G	probably damaging	Het
Zranb2	A	G	3: 157,250,677 (GRCm39)	R283G	probably null	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
R6083:2810021J22Rik	UTSW	11	58,769,677 (GRCm39)	missense	possibly damaging	0.73
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
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'- TGGACGCGTACAGTGTTTCC -3'
(R):5'- ATGTGGCCTCTGCTGTACAC -3'

Sequencing Primer
(F):5'- CAGCTCGACGAATGCCTTTGATAAG -3'
(R):5'- GGCCTCTGCTGTACACTCAAAG -3'

Posted On

2020-07-13