Mutagenetix > Incidental Mutation

Incidental Mutation 'R0062:4930407I10Rik'

46652

Institutional Source

Beutler Lab

Gene Symbol

4930407I10Rik

Ensembl Gene

ENSMUSG00000075524

Gene Name

RIKEN cDNA 4930407I10 gene

Synonyms

LOC328573

MMRRC Submission

038354-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R0062 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81943352-81950739 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81950504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 1467 (V1467D)

Ref Sequence

ENSEMBL: ENSMUSP00000097965 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089178] [ENSMUST00000100396] [ENSMUST00000229119]

AlphaFold

D3Z5T8

Predicted Effect

probably benign
Transcript: ENSMUST00000089178

SMART Domains

Protein: ENSMUSP00000086582
Gene: ENSMUSG00000068117

Domain	Start	End	E-Value	Type
low complexity region	13	30	N/A	INTRINSIC
SCOP:d1gw5a_	123	498	1e-3	SMART
low complexity region	956	966	N/A	INTRINSIC
low complexity region	1025	1045	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000100396
AA Change: V1467D

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097965
Gene: ENSMUSG00000075524
AA Change: V1467D

Domain	Start	End	E-Value	Type
Pfam:DUF4727	25	234	1.1e-109	PFAM
internal_repeat_1	321	406	9.89e-8	PROSPERO
low complexity region	453	465	N/A	INTRINSIC
internal_repeat_2	593	707	6.03e-6	PROSPERO
low complexity region	735	752	N/A	INTRINSIC
low complexity region	758	773	N/A	INTRINSIC
internal_repeat_2	842	958	6.03e-6	PROSPERO
internal_repeat_1	876	962	9.89e-8	PROSPERO
low complexity region	985	996	N/A	INTRINSIC
low complexity region	1117	1133	N/A	INTRINSIC
low complexity region	1143	1156	N/A	INTRINSIC
low complexity region	1199	1208	N/A	INTRINSIC
low complexity region	1259	1270	N/A	INTRINSIC
low complexity region	1282	1296	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000229119

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.4%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513I03Rik	G	T	10: 120,614,511 (GRCm39)		probably benign	Het
Abi2	T	A	1: 60,492,884 (GRCm39)	N182K	probably benign	Het
Adam25	A	T	8: 41,207,829 (GRCm39)	H365L	probably damaging	Het
Ankfy1	T	A	11: 72,603,030 (GRCm39)	Y20N	probably damaging	Het
Aqp11	C	T	7: 97,387,068 (GRCm39)	V43M	probably benign	Het
Arhgef10l	A	T	4: 140,279,843 (GRCm39)	L503Q	probably damaging	Het
Arhgef28	A	T	13: 98,093,150 (GRCm39)	I977N	possibly damaging	Het
Cacna1b	A	G	2: 24,648,343 (GRCm39)	Y161H	probably damaging	Het
Cacna1c	T	C	6: 118,579,198 (GRCm39)	D1480G	probably damaging	Het
Clk3	A	G	9: 57,659,449 (GRCm39)	M533T	probably damaging	Het
Cnbd1	A	G	4: 18,860,504 (GRCm39)	I414T	possibly damaging	Het
Commd3	A	T	2: 18,679,514 (GRCm39)		probably null	Het
Crybg1	G	T	10: 43,873,902 (GRCm39)	Q1069K	probably damaging	Het
Dnah8	T	A	17: 30,984,685 (GRCm39)	F3128I	probably damaging	Het
Dnmt3b	C	T	2: 153,514,192 (GRCm39)	P382S	probably benign	Het
Dock1	A	G	7: 134,379,224 (GRCm39)		probably null	Het
Dpysl3	C	T	18: 43,466,941 (GRCm39)		probably null	Het
Ebf2	T	A	14: 67,475,989 (GRCm39)		probably benign	Het
F830045P16Rik	T	C	2: 129,305,624 (GRCm39)	E250G	possibly damaging	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Fetub	T	C	16: 22,747,836 (GRCm39)		probably benign	Het
Fmn2	A	T	1: 174,436,015 (GRCm39)		probably benign	Het
Fryl	T	C	5: 73,179,621 (GRCm39)	I2929V	probably benign	Het
Gm11232	T	A	4: 71,675,112 (GRCm39)	Q130L	possibly damaging	Het
Gm9637	G	T	14: 19,402,570 (GRCm38)		noncoding transcript	Het
Gna15	A	G	10: 81,348,239 (GRCm39)		probably null	Het
Gtf3c5	T	C	2: 28,462,198 (GRCm39)		probably benign	Het
Irs2	G	A	8: 11,055,723 (GRCm39)	T903I	possibly damaging	Het
Itga2	G	A	13: 115,007,032 (GRCm39)	S432L	possibly damaging	Het
Izumo1	A	G	7: 45,276,621 (GRCm39)	T395A	probably benign	Het
Kcnd2	G	A	6: 21,727,225 (GRCm39)	V593M	possibly damaging	Het
Kprp	T	C	3: 92,731,989 (GRCm39)	S354G	probably damaging	Het
Krt72	T	C	15: 101,694,443 (GRCm39)	K151E	probably damaging	Het
Letm2	A	T	8: 26,077,464 (GRCm39)		probably benign	Het
Lipe	A	G	7: 25,097,874 (GRCm39)	V23A	possibly damaging	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Mef2c	A	G	13: 83,800,992 (GRCm39)	N231D	possibly damaging	Het
Mtdh	T	A	15: 34,134,426 (GRCm39)		probably benign	Het
Mthfd1	G	A	12: 76,344,363 (GRCm39)		probably benign	Het
Nbeal1	C	A	1: 60,286,876 (GRCm39)	N899K	probably benign	Het
Noc3l	T	C	19: 38,803,253 (GRCm39)	S129G	probably benign	Het
Odad2	T	A	18: 7,129,593 (GRCm39)		probably benign	Het
Or10ak14	T	C	4: 118,611,100 (GRCm39)	I212V	probably benign	Het
Or2aj6	T	C	16: 19,443,167 (GRCm39)	M228V	probably benign	Het
Or4c118	T	C	2: 88,974,966 (GRCm39)	I134V	possibly damaging	Het
Or8b1c	T	A	9: 38,384,554 (GRCm39)	D170E	probably benign	Het
Pik3r6	T	A	11: 68,419,635 (GRCm39)	Y149N	probably damaging	Het
Pja2	C	A	17: 64,615,966 (GRCm39)	V310L	probably damaging	Het
Plcd3	G	A	11: 102,965,720 (GRCm39)	A504V	probably benign	Het
Rint1	G	A	5: 23,992,826 (GRCm39)		probably benign	Het
Ripor3	A	G	2: 167,826,358 (GRCm39)		probably benign	Het
Rpa2	C	A	4: 132,505,125 (GRCm39)	N251K	probably damaging	Het
Rttn	T	C	18: 89,029,090 (GRCm39)		probably null	Het
Ryr2	C	T	13: 11,884,002 (GRCm39)		probably null	Het
Scara3	T	C	14: 66,168,417 (GRCm39)	N400S	probably damaging	Het
Slc7a6	G	T	8: 106,916,263 (GRCm39)	V180L	possibly damaging	Het
Slc7a6	T	A	8: 106,916,264 (GRCm39)	V180E	probably damaging	Het
Slc8b1	T	A	5: 120,659,928 (GRCm39)		probably null	Het
Slco1a4	G	A	6: 141,765,205 (GRCm39)	Q346*	probably null	Het
Stk32b	A	G	5: 37,618,792 (GRCm39)	S229P	probably damaging	Het
Syde2	A	G	3: 145,704,508 (GRCm39)	R487G	probably benign	Het
Tbc1d2b	T	C	9: 90,104,355 (GRCm39)		probably benign	Het
Ticrr	T	C	7: 79,317,654 (GRCm39)	V396A	probably benign	Het
Trrap	T	C	5: 144,719,003 (GRCm39)		probably benign	Het
Vmn1r124	A	T	7: 20,993,743 (GRCm39)	I267K	probably benign	Het
Vps13a	A	T	19: 16,646,054 (GRCm39)	H1994Q	probably damaging	Het
Wdr36	T	G	18: 32,997,802 (GRCm39)	V820G	possibly damaging	Het
Wdr83	G	A	8: 85,806,456 (GRCm39)	T114I	possibly damaging	Het
Zc3h7a	T	C	16: 10,957,011 (GRCm39)	N866S	probably damaging	Het
Zfc3h1	A	G	10: 115,252,658 (GRCm39)	K1324E	probably benign	Het

Other mutations in 4930407I10Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:4930407I10Rik	APN	15	81,950,581 (GRCm39)	missense	probably benign	0.00
IGL02135:4930407I10Rik	APN	15	81,949,205 (GRCm39)	missense	possibly damaging	0.63
IGL02367:4930407I10Rik	APN	15	81,949,748 (GRCm39)	missense	probably benign	0.00
IGL02626:4930407I10Rik	APN	15	81,949,810 (GRCm39)	missense	probably damaging	0.99
IGL02885:4930407I10Rik	APN	15	81,948,152 (GRCm39)	missense	probably benign	0.36
IGL03199:4930407I10Rik	APN	15	81,946,556 (GRCm39)	missense	possibly damaging	0.65
R0062:4930407I10Rik	UTSW	15	81,947,267 (GRCm39)	missense	probably benign	0.00
R0086:4930407I10Rik	UTSW	15	81,946,802 (GRCm39)	missense	probably benign	0.11
R0578:4930407I10Rik	UTSW	15	81,943,556 (GRCm39)	missense	possibly damaging	0.49
R1130:4930407I10Rik	UTSW	15	81,943,561 (GRCm39)	missense	probably benign
R1218:4930407I10Rik	UTSW	15	81,948,353 (GRCm39)	missense	probably benign	0.04
R1942:4930407I10Rik	UTSW	15	81,949,625 (GRCm39)	missense	probably damaging	0.98
R2380:4930407I10Rik	UTSW	15	81,949,036 (GRCm39)	missense	possibly damaging	0.92
R3945:4930407I10Rik	UTSW	15	81,949,601 (GRCm39)	missense	probably damaging	1.00
R4096:4930407I10Rik	UTSW	15	81,946,406 (GRCm39)	missense	probably benign	0.07
R4259:4930407I10Rik	UTSW	15	81,947,927 (GRCm39)	missense	possibly damaging	0.89
R4261:4930407I10Rik	UTSW	15	81,947,927 (GRCm39)	missense	possibly damaging	0.89
R4805:4930407I10Rik	UTSW	15	81,950,628 (GRCm39)	nonsense	probably null
R4992:4930407I10Rik	UTSW	15	81,948,203 (GRCm39)	missense	possibly damaging	0.60
R5094:4930407I10Rik	UTSW	15	81,946,883 (GRCm39)	missense	possibly damaging	0.72
R5161:4930407I10Rik	UTSW	15	81,947,542 (GRCm39)	nonsense	probably null
R5201:4930407I10Rik	UTSW	15	81,946,745 (GRCm39)	missense	probably benign	0.26
R5305:4930407I10Rik	UTSW	15	81,943,420 (GRCm39)	missense	possibly damaging	0.52
R5588:4930407I10Rik	UTSW	15	81,949,417 (GRCm39)	missense	possibly damaging	0.83
R5844:4930407I10Rik	UTSW	15	81,950,065 (GRCm39)	missense	probably benign	0.33
R6007:4930407I10Rik	UTSW	15	81,946,940 (GRCm39)	missense	probably benign	0.13
R6157:4930407I10Rik	UTSW	15	81,947,617 (GRCm39)	missense	possibly damaging	0.67
R6188:4930407I10Rik	UTSW	15	81,943,471 (GRCm39)	missense	probably benign	0.01
R6350:4930407I10Rik	UTSW	15	81,947,764 (GRCm39)	missense	possibly damaging	0.55
R6408:4930407I10Rik	UTSW	15	81,949,307 (GRCm39)	missense	possibly damaging	0.77
R6805:4930407I10Rik	UTSW	15	81,946,744 (GRCm39)	missense	possibly damaging	0.95
R6911:4930407I10Rik	UTSW	15	81,948,068 (GRCm39)	missense	probably benign	0.01
R6962:4930407I10Rik	UTSW	15	81,949,150 (GRCm39)	missense	probably benign	0.14
R7446:4930407I10Rik	UTSW	15	81,950,441 (GRCm39)	missense	probably benign
R7492:4930407I10Rik	UTSW	15	81,948,560 (GRCm39)	missense	possibly damaging	0.63
R7699:4930407I10Rik	UTSW	15	81,948,306 (GRCm39)	missense	probably benign	0.04
R7700:4930407I10Rik	UTSW	15	81,948,306 (GRCm39)	missense	probably benign	0.04
R7963:4930407I10Rik	UTSW	15	81,948,137 (GRCm39)	missense	possibly damaging	0.79
R8215:4930407I10Rik	UTSW	15	81,949,301 (GRCm39)	missense	probably benign	0.01
R8257:4930407I10Rik	UTSW	15	81,950,153 (GRCm39)	missense	probably benign	0.22
R8311:4930407I10Rik	UTSW	15	81,947,440 (GRCm39)	missense	possibly damaging	0.77
R8436:4930407I10Rik	UTSW	15	81,949,936 (GRCm39)	missense	possibly damaging	0.48
R8530:4930407I10Rik	UTSW	15	81,949,587 (GRCm39)	missense	probably damaging	0.99
R8531:4930407I10Rik	UTSW	15	81,950,622 (GRCm39)	missense	probably benign	0.02
R8886:4930407I10Rik	UTSW	15	81,950,051 (GRCm39)	missense	probably damaging	0.99
R9109:4930407I10Rik	UTSW	15	81,947,615 (GRCm39)	missense	probably benign	0.00
R9298:4930407I10Rik	UTSW	15	81,947,615 (GRCm39)	missense	probably benign	0.00
R9424:4930407I10Rik	UTSW	15	81,947,843 (GRCm39)	missense	probably benign	0.00
R9576:4930407I10Rik	UTSW	15	81,947,843 (GRCm39)	missense	probably benign	0.00
R9654:4930407I10Rik	UTSW	15	81,948,916 (GRCm39)	missense	possibly damaging	0.95
R9696:4930407I10Rik	UTSW	15	81,949,697 (GRCm39)	missense	probably benign
R9710:4930407I10Rik	UTSW	15	81,946,852 (GRCm39)	missense	probably benign
RF004:4930407I10Rik	UTSW	15	81,943,550 (GRCm39)	missense	possibly damaging	0.82
X0011:4930407I10Rik	UTSW	15	81,943,486 (GRCm39)	missense	probably damaging	1.00
X0026:4930407I10Rik	UTSW	15	81,947,512 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCTTGAAAGGGAGTATCCACTCCG -3'
(R):5'- TGCTGTCCACAGAGGACACAAATC -3'

Sequencing Primer
(F):5'- AGACTGAGCATGACCGTCTG -3'
(R):5'- TCTGAGACTAAGCAGGTCCG -3'

Posted On

2013-06-11