Mutagenetix > Incidental Mutation

Incidental Mutation 'R7519:2310022A10Rik'

582560

Institutional Source

Beutler Lab

Gene Symbol

2310022A10Rik

Ensembl Gene

ENSMUSG00000049643

Gene Name

RIKEN cDNA 2310022A10 gene

Synonyms

MMRRC Submission

045591-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R7519 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27252658-27281524 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 27274155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 132 (R132K)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067386] [ENSMUST00000187032] [ENSMUST00000187960] [ENSMUST00000191126]

AlphaFold

no structure available at present

Predicted Effect

silent
Transcript: ENSMUST00000067386

SMART Domains

Protein: ENSMUSP00000066803
Gene: ENSMUSG00000049643

Domain	Start	End	E-Value	Type
Blast:SAM	34	100	5e-20	BLAST
SCOP:d1b4fa_	54	100	7e-5	SMART
low complexity region	164	176	N/A	INTRINSIC
low complexity region	268	277	N/A	INTRINSIC
low complexity region	300	325	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000187032

SMART Domains

Protein: ENSMUSP00000139423
Gene: ENSMUSG00000049643

Domain	Start	End	E-Value	Type
Blast:SAM	28	92	4e-20	BLAST
SCOP:d1b4fa_	48	94	6e-5	SMART
low complexity region	158	170	N/A	INTRINSIC
low complexity region	262	271	N/A	INTRINSIC
low complexity region	294	319	N/A	INTRINSIC
low complexity region	378	386	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000187960

SMART Domains

Protein: ENSMUSP00000140651
Gene: ENSMUSG00000049643

Domain	Start	End	E-Value	Type
Blast:SAM	34	98	4e-20	BLAST
SCOP:d1b4fa_	54	100	6e-5	SMART
low complexity region	164	176	N/A	INTRINSIC
low complexity region	268	277	N/A	INTRINSIC
low complexity region	300	325	N/A	INTRINSIC
low complexity region	384	392	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191126

SMART Domains

Protein: ENSMUSP00000139696
Gene: ENSMUSG00000049643

Domain	Start	End	E-Value	Type
Blast:SAM	8	74	1e-22	BLAST
SCOP:d1b4fa_	28	74	4e-5	SMART
low complexity region	138	150	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,136,682 (GRCm39)	S571P	probably damaging	Het
Adamts20	T	G	15: 94,223,869 (GRCm39)	K1286N	possibly damaging	Het
Adamts7	A	G	9: 90,079,132 (GRCm39)	D1477G	probably benign	Het
Alox12b	C	T	11: 69,054,039 (GRCm39)	T207I	probably benign	Het
Arid1b	GGGCGGCGGCGGCGGCGGCGGCGG	GGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	17: 5,046,119 (GRCm39)		probably benign	Het
Arid1b	CGGCGG	CGGCGGTGGCGG	17: 5,046,128 (GRCm39)		probably benign	Het
Aspm	T	A	1: 139,418,074 (GRCm39)	N2934K	possibly damaging	Het
Axin2	T	G	11: 108,833,072 (GRCm39)	V419G	probably benign	Het
B4galnt4	A	G	7: 140,644,257 (GRCm39)	T108A	probably damaging	Het
Cacna1s	G	A	1: 135,998,494 (GRCm39)	R174Q	probably damaging	Het
Cdh18	G	T	15: 23,474,298 (GRCm39)	A723S	possibly damaging	Het
Ces4a	T	C	8: 105,871,851 (GRCm39)	M307T	probably damaging	Het
Cobl	T	A	11: 12,203,124 (GRCm39)	I1193F	probably damaging	Het
Crb2	G	T	2: 37,683,332 (GRCm39)	G945W	probably damaging	Het
Ctnna1	T	G	18: 35,307,424 (GRCm39)	I140M	probably benign	Het
Dnah5	T	C	15: 28,390,629 (GRCm39)	S3213P	probably damaging	Het
Fbln7	A	G	2: 128,735,785 (GRCm39)	S258G	probably benign	Het
Fbxo15	T	G	18: 84,982,359 (GRCm39)		probably benign	Het
Fcgbp	A	G	7: 27,785,724 (GRCm39)	Y387C	probably damaging	Het
Flt3l	G	A	7: 44,783,269 (GRCm39)	T176I	unknown	Het
Galk2	G	A	2: 125,825,172 (GRCm39)	R456H	possibly damaging	Het
Gm10840	T	C	11: 106,051,716 (GRCm39)	L14P	unknown	Het
Gm5591	T	C	7: 38,220,094 (GRCm39)	T260A	possibly damaging	Het
Gm6370	T	A	5: 146,430,638 (GRCm39)	D274E	probably damaging	Het
Grhl2	T	A	15: 37,336,556 (GRCm39)	D484E	probably damaging	Het
Hbp1	A	T	12: 31,983,374 (GRCm39)	V360D	probably damaging	Het
Heatr5b	G	T	17: 79,062,646 (GRCm39)	Q1968K	probably benign	Het
Igsf8	C	T	1: 172,143,874 (GRCm39)	T72M	probably benign	Het
Kera	A	T	10: 97,444,884 (GRCm39)	N81I	probably damaging	Het
Klhl14	C	T	18: 21,784,900 (GRCm39)	V176I	probably benign	Het
Klrb1	A	T	6: 128,689,252 (GRCm39)	V73E	probably damaging	Het
Krtap31-2	T	C	11: 99,827,501 (GRCm39)	L111P	possibly damaging	Het
Mbtd1	T	C	11: 93,799,725 (GRCm39)	S106P	probably damaging	Het
Nckap5l	T	C	15: 99,324,128 (GRCm39)	T792A	probably benign	Het
Ndufaf4	A	C	4: 24,901,847 (GRCm39)	T132P	probably damaging	Het
Neo1	A	G	9: 58,785,348 (GRCm39)	V1453A	probably benign	Het
Or5w13	T	C	2: 87,523,753 (GRCm39)	I158V	probably benign	Het
Or6c76	A	C	10: 129,612,091 (GRCm39)	I103L	probably benign	Het
Pcdha11	T	A	18: 37,139,319 (GRCm39)	L316*	probably null	Het
Pcdha7	T	C	18: 37,109,285 (GRCm39)	M770T	possibly damaging	Het
Pcsk1	T	C	13: 75,258,984 (GRCm39)	S253P	probably damaging	Het
Phtf1	T	C	3: 103,876,435 (GRCm39)	Y12H	probably damaging	Het
Pkd1l2	T	C	8: 117,792,268 (GRCm39)	N508S	probably benign	Het
Pla1a	A	G	16: 38,235,208 (GRCm39)	I162T	possibly damaging	Het
Rb1	A	T	14: 73,502,048 (GRCm39)	L446M	probably damaging	Het
Retn	A	T	8: 3,706,079 (GRCm39)	S22C	probably damaging	Het
Snx25	A	G	8: 46,569,309 (GRCm39)	L196P	probably damaging	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Spata31d1b	G	A	13: 59,864,726 (GRCm39)	D625N	probably benign	Het
Sycp2	T	C	2: 177,988,126 (GRCm39)	*1501W	probably null	Het
Tarbp1	T	G	8: 127,160,639 (GRCm39)	T1271P	possibly damaging	Het
Uba1y	T	C	Y: 821,567 (GRCm39)	F154L	probably benign	Het
Ubr1	T	A	2: 120,705,925 (GRCm39)	I1513F	possibly damaging	Het
Vmn2r110	T	A	17: 20,804,524 (GRCm39)	Q132L	probably benign	Het
Vwf	A	T	6: 125,644,506 (GRCm39)	T2454S		Het
Wdr33	C	A	18: 32,029,823 (GRCm39)	F1007L	unknown	Het
Zfp398	A	G	6: 47,836,407 (GRCm39)	H201R	probably benign	Het

Other mutations in 2310022A10Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02292:2310022A10Rik	APN	7	27,263,982 (GRCm39)	missense	probably benign	0.05
IGL03261:2310022A10Rik	APN	7	27,279,863 (GRCm39)	nonsense	probably null
R0305:2310022A10Rik	UTSW	7	27,274,061 (GRCm39)	missense	probably damaging	1.00
R1080:2310022A10Rik	UTSW	7	27,265,109 (GRCm39)	missense	probably benign
R1696:2310022A10Rik	UTSW	7	27,260,022 (GRCm39)	missense	possibly damaging	0.94
R1773:2310022A10Rik	UTSW	7	27,280,020 (GRCm39)	missense	probably damaging	0.98
R4171:2310022A10Rik	UTSW	7	27,265,109 (GRCm39)	missense	probably benign
R4583:2310022A10Rik	UTSW	7	27,274,017 (GRCm39)	missense	unknown
R4781:2310022A10Rik	UTSW	7	27,271,076 (GRCm39)	missense	probably damaging	1.00
R4806:2310022A10Rik	UTSW	7	27,265,070 (GRCm39)	critical splice acceptor site	probably null
R4998:2310022A10Rik	UTSW	7	27,271,088 (GRCm39)	missense	probably damaging	1.00
R5000:2310022A10Rik	UTSW	7	27,255,946 (GRCm39)	missense	probably benign	0.04
R5007:2310022A10Rik	UTSW	7	27,278,192 (GRCm39)	missense	probably damaging	1.00
R5008:2310022A10Rik	UTSW	7	27,278,192 (GRCm39)	missense	probably damaging	1.00
R5364:2310022A10Rik	UTSW	7	27,278,192 (GRCm39)	missense	probably damaging	1.00
R6119:2310022A10Rik	UTSW	7	27,265,138 (GRCm39)	nonsense	probably null
R6991:2310022A10Rik	UTSW	7	27,279,871 (GRCm39)	missense	probably damaging	1.00
R7014:2310022A10Rik	UTSW	7	27,278,198 (GRCm39)	nonsense	probably null
R7787:2310022A10Rik	UTSW	7	27,263,926 (GRCm39)	missense	probably damaging	1.00
R8244:2310022A10Rik	UTSW	7	27,271,004 (GRCm39)	missense	probably damaging	1.00
R8525:2310022A10Rik	UTSW	7	27,255,936 (GRCm39)	missense	possibly damaging	0.64
R9246:2310022A10Rik	UTSW	7	27,279,961 (GRCm39)	missense	probably benign	0.06
R9500:2310022A10Rik	UTSW	7	27,265,091 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- CAGAGGTAAACTGTCCTGACC -3'
(R):5'- CCAGGTACGGTCACTTACTTTTAAG -3'

Sequencing Primer
(F):5'- AACTGTCCTGACCATAGCTAGGTG -3'
(R):5'- CTTTTAAGGGCAGCCATGAC -3'

Posted On

2019-10-17