Mutagenetix > Incidental Mutation

Incidental Mutation 'R2041:2610021A01Rik'

224921

Institutional Source

Beutler Lab

Gene Symbol

2610021A01Rik

Ensembl Gene

ENSMUSG00000091474

Gene Name

RIKEN cDNA 2610021A01 gene

Synonyms

MMRRC Submission

040048-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R2041 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41248654-41277957 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41275403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 369 (R369G)

Ref Sequence

ENSEMBL: ENSMUSP00000127760 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163475]

AlphaFold

E9Q0Q3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163475
AA Change: R369G

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000127760
Gene: ENSMUSG00000091474
AA Change: R369G

Domain	Start	End	E-Value	Type
KRAB	18	78	1.32e-32	SMART
ZnF_C2H2	415	437	4.54e-4	SMART
ZnF_C2H2	443	465	3.69e-4	SMART
ZnF_C2H2	471	493	5.14e-3	SMART
ZnF_C2H2	499	521	4.94e-5	SMART
ZnF_C2H2	527	549	3.16e-3	SMART
ZnF_C2H2	555	577	3.16e-3	SMART
ZnF_C2H2	583	605	8.6e-5	SMART
ZnF_C2H2	611	633	1.79e-2	SMART
ZnF_C2H2	639	661	2.43e-4	SMART
ZnF_C2H2	667	689	1.72e-4	SMART
ZnF_C2H2	695	717	9.73e-4	SMART
ZnF_C2H2	723	745	2.02e-1	SMART
ZnF_C2H2	751	773	1.69e-3	SMART
ZnF_C2H2	779	801	3.69e-4	SMART
ZnF_C2H2	807	829	7.37e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206757

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	A	5: 144,982,211 (GRCm39)	D265E	probably damaging	Het
Actr3b	T	C	5: 25,965,128 (GRCm39)		probably null	Het
Adamts12	A	T	15: 11,215,821 (GRCm39)	M281L	probably damaging	Het
Aipl1	T	A	11: 71,922,332 (GRCm39)	M126L	possibly damaging	Het
Akap12	C	T	10: 4,306,489 (GRCm39)	P1100S	probably benign	Het
Alox8	T	A	11: 69,088,517 (GRCm39)	H40L	possibly damaging	Het
Anks1	T	A	17: 28,227,388 (GRCm39)	F659L	probably damaging	Het
Asxl3	G	T	18: 22,656,508 (GRCm39)	R1506L	probably benign	Het
Bicd2	A	G	13: 49,495,252 (GRCm39)	T36A	probably benign	Het
Ccar1	A	T	10: 62,601,827 (GRCm39)	L448Q	probably damaging	Het
Ccdc17	T	G	4: 116,456,789 (GRCm39)	N497K	probably damaging	Het
Chek2	T	C	5: 110,996,530 (GRCm39)	I164T	probably damaging	Het
Cntnap5c	T	C	17: 58,411,765 (GRCm39)		probably null	Het
Cntnap5c	T	A	17: 58,505,984 (GRCm39)	D669E	probably benign	Het
Cpsf6	A	G	10: 117,195,033 (GRCm39)	I482T	probably damaging	Het
Csf3	C	T	11: 98,592,483 (GRCm39)	S65L	possibly damaging	Het
Dlc1	A	G	8: 37,049,922 (GRCm39)	Y1049H	probably damaging	Het
Dnah6	T	C	6: 73,050,422 (GRCm39)	D3048G	probably damaging	Het
Eif4g3	T	A	4: 137,832,617 (GRCm39)		probably benign	Het
Epb41l4b	T	C	4: 57,084,070 (GRCm39)	K195R	probably damaging	Het
Epn1	T	C	7: 5,086,874 (GRCm39)	S41P	probably damaging	Het
Fam120a	C	A	13: 49,051,243 (GRCm39)	V721L	probably benign	Het
Fchsd1	T	A	18: 38,100,729 (GRCm39)		probably null	Het
Fer1l6	G	A	15: 58,430,155 (GRCm39)	G194D	probably damaging	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Fyb1	A	C	15: 6,674,268 (GRCm39)	T635P	possibly damaging	Het
Gpr153	A	G	4: 152,367,810 (GRCm39)	S554G	probably benign	Het
Grm1	A	G	10: 10,622,347 (GRCm39)	F459L	probably damaging	Het
H60c	C	T	10: 3,209,972 (GRCm39)	G105D	probably damaging	Het
Ifnlr1	T	A	4: 135,433,148 (GRCm39)	M528K	possibly damaging	Het
Lama4	A	T	10: 38,945,987 (GRCm39)	D790V	probably damaging	Het
Mfsd13b	T	C	7: 120,591,139 (GRCm39)		probably benign	Het
Mis12	T	A	11: 70,916,132 (GRCm39)	I55N	probably damaging	Het
Morn1	T	C	4: 155,175,399 (GRCm39)	Y103H	probably damaging	Het
Mrgpra2b	C	T	7: 47,113,908 (GRCm39)	V249I	probably benign	Het
Ndst3	C	A	3: 123,465,864 (GRCm39)	G36V	probably benign	Het
Nlrp4a	T	A	7: 26,149,611 (GRCm39)	M406K	probably damaging	Het
Or4p18	T	C	2: 88,232,568 (GRCm39)	T237A	probably damaging	Het
Or51t4	T	A	7: 102,598,170 (GRCm39)	V156E	probably damaging	Het
Or5b106	A	T	19: 13,124,041 (GRCm39)		probably benign	Het
Or7g32	A	T	9: 19,408,131 (GRCm39)	D29V	probably benign	Het
Or9m1	T	C	2: 87,733,141 (GRCm39)	N293S	probably damaging	Het
Pars2	A	G	4: 106,510,814 (GRCm39)	T199A	probably damaging	Het
Plcb4	C	T	2: 135,780,191 (GRCm39)	T172I	probably damaging	Het
Pomgnt2	A	T	9: 121,811,354 (GRCm39)	W476R	probably benign	Het
Psg23	T	A	7: 18,348,703 (GRCm39)	S35C	possibly damaging	Het
Pycr3	T	A	15: 75,791,144 (GRCm39)		probably null	Het
Rab3gap1	T	C	1: 127,865,727 (GRCm39)	V764A	possibly damaging	Het
Rgs2	A	G	1: 143,877,960 (GRCm39)	F80S	probably damaging	Het
Sall1	A	G	8: 89,759,429 (GRCm39)	L225P	probably benign	Het
Setd3	A	G	12: 108,079,651 (GRCm39)	I284T	possibly damaging	Het
Slc4a9	C	T	18: 36,663,846 (GRCm39)	T290I	possibly damaging	Het
Tmem87b	T	C	2: 128,673,509 (GRCm39)	V251A	probably damaging	Het
Ube3b	T	C	5: 114,525,294 (GRCm39)	L39P	probably damaging	Het
Ubr2	C	A	17: 47,296,973 (GRCm39)	R269L	probably damaging	Het
Vrk2	A	T	11: 26,497,914 (GRCm39)	I90K	probably benign	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp984	A	T	4: 147,839,796 (GRCm39)	C352S	probably damaging	Het

Other mutations in 2610021A01Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:2610021A01Rik	APN	7	41,274,996 (GRCm39)	missense	possibly damaging	0.61
IGL00566:2610021A01Rik	APN	7	41,274,815 (GRCm39)	missense	possibly damaging	0.53
R0940:2610021A01Rik	UTSW	7	41,275,858 (GRCm39)	missense	probably damaging	1.00
R1101:2610021A01Rik	UTSW	7	41,276,783 (GRCm39)	missense	probably damaging	1.00
R1180:2610021A01Rik	UTSW	7	41,275,141 (GRCm39)	missense	probably benign	0.41
R1560:2610021A01Rik	UTSW	7	41,275,466 (GRCm39)	missense	probably benign	0.09
R1740:2610021A01Rik	UTSW	7	41,275,549 (GRCm39)	nonsense	probably null
R1988:2610021A01Rik	UTSW	7	41,276,081 (GRCm39)	nonsense	probably null
R2964:2610021A01Rik	UTSW	7	41,275,829 (GRCm39)	nonsense	probably null
R2965:2610021A01Rik	UTSW	7	41,275,829 (GRCm39)	nonsense	probably null
R2966:2610021A01Rik	UTSW	7	41,275,829 (GRCm39)	nonsense	probably null
R4002:2610021A01Rik	UTSW	7	41,274,964 (GRCm39)	missense	possibly damaging	0.83
R4569:2610021A01Rik	UTSW	7	41,275,262 (GRCm39)	missense	probably benign	0.04
R4708:2610021A01Rik	UTSW	7	41,261,309 (GRCm39)	missense	probably damaging	1.00
R4880:2610021A01Rik	UTSW	7	41,276,529 (GRCm39)	missense	possibly damaging	0.47
R4933:2610021A01Rik	UTSW	7	41,276,226 (GRCm39)	missense	probably damaging	0.98
R5036:2610021A01Rik	UTSW	7	41,275,578 (GRCm39)	missense	possibly damaging	0.92
R5206:2610021A01Rik	UTSW	7	41,276,009 (GRCm39)	nonsense	probably null
R5235:2610021A01Rik	UTSW	7	41,274,256 (GRCm39)	missense	possibly damaging	0.53
R6449:2610021A01Rik	UTSW	7	41,275,298 (GRCm39)	nonsense	probably null
R6488:2610021A01Rik	UTSW	7	41,275,298 (GRCm39)	nonsense	probably null
R6904:2610021A01Rik	UTSW	7	41,275,516 (GRCm39)	nonsense	probably null
R7058:2610021A01Rik	UTSW	7	41,275,554 (GRCm39)	missense	possibly damaging	0.61
R7157:2610021A01Rik	UTSW	7	41,276,400 (GRCm39)	missense	probably damaging	1.00
R7392:2610021A01Rik	UTSW	7	41,275,990 (GRCm39)	missense	probably damaging	1.00
R7589:2610021A01Rik	UTSW	7	41,276,396 (GRCm39)	missense	probably damaging	1.00
R7648:2610021A01Rik	UTSW	7	41,261,886 (GRCm39)	missense	possibly damaging	0.51
R7785:2610021A01Rik	UTSW	7	41,262,617 (GRCm39)	missense	probably benign
R8153:2610021A01Rik	UTSW	7	41,275,157 (GRCm39)	missense	probably benign	0.00
R8199:2610021A01Rik	UTSW	7	41,275,304 (GRCm39)	missense	probably damaging	0.98
R8943:2610021A01Rik	UTSW	7	41,275,667 (GRCm39)	missense	probably damaging	0.98
R9052:2610021A01Rik	UTSW	7	41,275,449 (GRCm39)	missense	probably benign	0.29
R9071:2610021A01Rik	UTSW	7	41,274,783 (GRCm39)	missense	probably benign
R9169:2610021A01Rik	UTSW	7	41,261,109 (GRCm39)	start gained	probably benign
R9209:2610021A01Rik	UTSW	7	41,275,837 (GRCm39)	missense	possibly damaging	0.79
R9281:2610021A01Rik	UTSW	7	41,274,184 (GRCm39)	missense	possibly damaging	0.73
R9530:2610021A01Rik	UTSW	7	41,274,165 (GRCm39)	missense	possibly damaging	0.53
R9612:2610021A01Rik	UTSW	7	41,276,327 (GRCm39)	missense	possibly damaging	0.73
X0067:2610021A01Rik	UTSW	7	41,276,741 (GRCm39)	missense	probably benign	0.09
Z1176:2610021A01Rik	UTSW	7	41,274,766 (GRCm39)	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- TGCCTGTTTATGGGAAGTGATAAATCC -3'
(R):5'- TCTCACCAGTGTGGATTCTCTG -3'

Sequencing Primer
(F):5'- TGGGAAGTGATAAATCCTTCAATTTC -3'
(R):5'- CTCTGATGAGCTTGCAGATATGAACC -3'

Posted On

2014-08-25