Mutagenetix > Incidental Mutation

Incidental Mutation 'R0164:4930522L14Rik'

24328

Institutional Source

Beutler Lab

Gene Symbol

4930522L14Rik

Ensembl Gene

ENSMUSG00000072762

Gene Name

RIKEN cDNA 4930522L14 gene

Synonyms

Gm42152

MMRRC Submission

038440-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R0164 (G1)

Quality Score

155

Status

Not validated

Chromosome

Chromosomal Location

109883856-109899752 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109884713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 382 (K382E)

Ref Sequence

ENSEMBL: ENSMUSP00000108166 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100937] [ENSMUST00000112547]

AlphaFold

E9QAG4

Predicted Effect

probably benign
Transcript: ENSMUST00000100937

SMART Domains

Protein: ENSMUSP00000098497
Gene: ENSMUSG00000072762

Domain	Start	End	E-Value	Type
KRAB	4	64	5.37e-15	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112547
AA Change: K382E

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108166
Gene: ENSMUSG00000072762
AA Change: K382E

Domain	Start	End	E-Value	Type
KRAB	4	66	7.19e-16	SMART
ZnF_C2H2	103	125	2.75e-3	SMART
ZnF_C2H2	131	153	1.72e-4	SMART
ZnF_C2H2	159	181	7.9e-4	SMART
ZnF_C2H2	187	209	1.04e-3	SMART
ZnF_C2H2	215	237	1.1e-2	SMART
ZnF_C2H2	243	265	3.89e-3	SMART
ZnF_C2H2	271	294	3.69e-4	SMART
ZnF_C2H2	300	322	5.9e-3	SMART
ZnF_C2H2	328	350	1.56e-2	SMART
ZnF_C2H2	356	378	1.18e-2	SMART
ZnF_C2H2	384	406	9.08e-4	SMART
ZnF_C2H2	412	434	1.98e-4	SMART
ZnF_C2H2	440	462	2.61e-4	SMART
ZnF_C2H2	468	491	1.38e-3	SMART
ZnF_C2H2	497	519	3.39e-3	SMART
ZnF_C2H2	525	547	1.4e-4	SMART
ZnF_C2H2	553	576	1.95e-3	SMART
ZnF_C2H2	582	604	5.14e-3	SMART
ZnF_C2H2	610	632	1.67e-2	SMART
ZnF_C2H2	638	660	1.72e-4	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

69% (18/26)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
Adck1	A	G	12: 88,422,280 (GRCm39)	E297G	probably damaging	Het
Aldh3a2	C	T	11: 61,139,714 (GRCm39)	V473I	probably benign	Het
Arfgef3	A	T	10: 18,523,663 (GRCm39)	I369K	possibly damaging	Het
Atp1b3	T	C	9: 96,220,762 (GRCm39)	I178V	possibly damaging	Het
Axdnd1	T	C	1: 156,205,956 (GRCm39)	E520G	possibly damaging	Het
BB019430	A	T	10: 58,540,093 (GRCm39)		noncoding transcript	Het
Btbd1	T	A	7: 81,450,751 (GRCm39)	Q343L	probably benign	Het
Catsper1	A	G	19: 5,389,503 (GRCm39)	T473A	possibly damaging	Het
Ccn4	T	C	15: 66,791,059 (GRCm39)	L287P	probably damaging	Het
Chmp6	G	A	11: 119,806,349 (GRCm39)		probably null	Het
Cstdc7	T	A	18: 42,306,608 (GRCm39)	D58E	probably damaging	Het
D130040H23Rik	T	C	8: 69,755,195 (GRCm39)	V200A	possibly damaging	Het
D830013O20Rik	C	T	12: 73,411,105 (GRCm39)		noncoding transcript	Het
Dcaf1	T	A	9: 106,721,344 (GRCm39)	S379T	possibly damaging	Het
Dhx58	T	C	11: 100,586,150 (GRCm39)	I624V	probably benign	Het
Disp3	T	C	4: 148,338,708 (GRCm39)	E821G	probably damaging	Het
Dlc1	T	A	8: 37,066,594 (GRCm39)	E464V	probably damaging	Het
Dnah10	G	A	5: 124,860,898 (GRCm39)	V2151I	probably damaging	Het
Dnah8	G	A	17: 30,967,639 (GRCm39)	G2617D	probably benign	Het
Dnah9	C	A	11: 65,809,630 (GRCm39)	E872*	probably null	Het
Dock9	T	C	14: 121,835,077 (GRCm39)	Y99C	probably damaging	Het
Dpy19l3	T	A	7: 35,416,071 (GRCm39)	I310F	probably damaging	Het
Fggy	A	T	4: 95,725,891 (GRCm39)	I137F	probably damaging	Het
Gm14012	C	T	2: 128,079,936 (GRCm39)		noncoding transcript	Het
Gm14421	A	T	2: 176,748,515 (GRCm39)		noncoding transcript	Het
Grin2a	A	G	16: 9,812,685 (GRCm39)		probably null	Het
Incenp	A	G	19: 9,872,243 (GRCm39)	S72P	probably benign	Het
Klc3	T	A	7: 19,128,851 (GRCm39)	N469Y	possibly damaging	Het
Lrrc42	A	G	4: 107,104,702 (GRCm39)	S88P	probably benign	Het
Lrrc49	G	A	9: 60,587,883 (GRCm39)	T93I	probably benign	Het
Mlycd	A	T	8: 120,134,380 (GRCm39)	Q294L	probably damaging	Het
Mrpl22	T	A	11: 58,062,647 (GRCm39)	I19N	probably benign	Het
Msh3	T	A	13: 92,485,717 (GRCm39)	K202N	probably damaging	Het
Mucl2	C	T	15: 103,929,445 (GRCm39)		probably null	Het
Ncam1	C	T	9: 49,479,709 (GRCm39)	D90N	probably damaging	Het
Nckap5	A	T	1: 125,952,144 (GRCm39)	D1405E	possibly damaging	Het
Ncoa2	A	G	1: 13,256,955 (GRCm39)		probably null	Het
Nlrp1b	A	T	11: 71,054,925 (GRCm39)	W844R	probably damaging	Het
Nmnat1	G	T	4: 149,553,607 (GRCm39)	N168K	possibly damaging	Het
Or5b96	A	G	19: 12,867,809 (GRCm39)	L44P	probably damaging	Het
Ost4	T	C	5: 31,064,803 (GRCm39)	H26R	probably damaging	Het
Otog	G	A	7: 45,953,655 (GRCm39)	V2638M	probably damaging	Het
Otogl	A	T	10: 107,710,391 (GRCm39)	I566N	probably damaging	Het
Pcyt1a	T	C	16: 32,289,004 (GRCm39)	S282P	probably damaging	Het
Prkcg	G	A	7: 3,377,635 (GRCm39)	E581K	probably damaging	Het
Ralgps2	A	G	1: 156,714,659 (GRCm39)		probably null	Het
Scmh1	T	C	4: 120,387,062 (GRCm39)		probably benign	Het
Sgo2b	T	C	8: 64,391,417 (GRCm39)	H150R	possibly damaging	Het
Sh2b3	T	G	5: 121,967,100 (GRCm39)	T5P	probably damaging	Het
Tdp2	A	G	13: 25,022,222 (GRCm39)	M214V	probably damaging	Het
Tmem204	A	G	17: 25,277,324 (GRCm39)	I187T	probably damaging	Het
Tmem208	T	G	8: 106,061,326 (GRCm39)	D117E	probably benign	Het
Tnks1bp1	C	T	2: 84,889,565 (GRCm39)	P631S	possibly damaging	Het
Tomm70a	T	C	16: 56,968,184 (GRCm39)	V517A	probably damaging	Het
Ttc7	T	C	17: 87,687,323 (GRCm39)	V801A	probably damaging	Het
Txndc5	A	T	13: 38,691,929 (GRCm39)	C146S	probably damaging	Het
Ube4b	G	T	4: 149,444,781 (GRCm39)	T493K	probably damaging	Het
Ufl1	A	T	4: 25,256,008 (GRCm39)	Y504N	probably benign	Het
Ulk3	T	A	9: 57,497,969 (GRCm39)	I90N	probably damaging	Het
Unc13c	T	C	9: 73,602,174 (GRCm39)	I1357M	probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vmn2r91	A	C	17: 18,326,399 (GRCm39)	N228T	probably benign	Het
Zbtb6	G	T	2: 37,319,600 (GRCm39)	Y109*	probably null	Het
Zfp640	G	T	13: 66,819,062 (GRCm39)		noncoding transcript	Het
Zfp640	C	A	13: 66,819,038 (GRCm39)		noncoding transcript	Het
Zfp980	A	G	4: 145,428,567 (GRCm39)	D432G	probably benign	Het

Other mutations in 4930522L14Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02622:4930522L14Rik	APN	5	109,887,101 (GRCm39)	missense	possibly damaging	0.86
R0164:4930522L14Rik	UTSW	5	109,884,713 (GRCm39)	missense	probably damaging	0.96
R0432:4930522L14Rik	UTSW	5	109,884,785 (GRCm39)	missense	probably damaging	1.00
R0463:4930522L14Rik	UTSW	5	109,884,926 (GRCm39)	unclassified	probably benign
R0891:4930522L14Rik	UTSW	5	109,884,156 (GRCm39)	missense	possibly damaging	0.47
R1289:4930522L14Rik	UTSW	5	109,884,756 (GRCm39)	nonsense	probably null
R1637:4930522L14Rik	UTSW	5	109,886,858 (GRCm39)	missense	probably benign	0.01
R1764:4930522L14Rik	UTSW	5	109,884,655 (GRCm39)	missense	probably benign	0.22
R1793:4930522L14Rik	UTSW	5	109,884,144 (GRCm39)	missense	probably damaging	1.00
R1860:4930522L14Rik	UTSW	5	109,884,098 (GRCm39)	missense	probably damaging	1.00
R1899:4930522L14Rik	UTSW	5	109,884,664 (GRCm39)	missense	probably benign	0.04
R2135:4930522L14Rik	UTSW	5	109,885,509 (GRCm39)	missense	probably benign	0.00
R2143:4930522L14Rik	UTSW	5	109,884,616 (GRCm39)	missense	probably damaging	1.00
R2877:4930522L14Rik	UTSW	5	109,886,811 (GRCm39)	splice site	probably benign
R3847:4930522L14Rik	UTSW	5	109,884,190 (GRCm39)	splice site	probably null
R4431:4930522L14Rik	UTSW	5	109,884,440 (GRCm39)	missense	possibly damaging	0.47
R4578:4930522L14Rik	UTSW	5	109,884,537 (GRCm39)	nonsense	probably null
R4611:4930522L14Rik	UTSW	5	109,885,259 (GRCm39)	missense	probably benign	0.00
R4776:4930522L14Rik	UTSW	5	109,884,739 (GRCm39)	missense	probably benign	0.22
R4921:4930522L14Rik	UTSW	5	109,885,662 (GRCm39)	missense	probably benign	0.25
R4937:4930522L14Rik	UTSW	5	109,884,067 (GRCm39)	missense	probably benign	0.12
R4952:4930522L14Rik	UTSW	5	109,887,063 (GRCm39)	critical splice donor site	probably null
R4980:4930522L14Rik	UTSW	5	109,885,292 (GRCm39)	missense	probably damaging	1.00
R5079:4930522L14Rik	UTSW	5	109,885,196 (GRCm39)	missense	probably benign
R5088:4930522L14Rik	UTSW	5	109,883,939 (GRCm39)	missense	probably damaging	1.00
R5143:4930522L14Rik	UTSW	5	109,887,064 (GRCm39)	critical splice donor site	probably null
R5183:4930522L14Rik	UTSW	5	109,887,171 (GRCm39)	missense	probably damaging	1.00
R5461:4930522L14Rik	UTSW	5	109,884,643 (GRCm39)	missense	possibly damaging	0.74
R5498:4930522L14Rik	UTSW	5	109,885,413 (GRCm39)	missense	probably benign	0.05
R5576:4930522L14Rik	UTSW	5	109,885,570 (GRCm39)	missense	probably benign	0.00
R6081:4930522L14Rik	UTSW	5	109,887,097 (GRCm39)	missense	probably damaging	1.00
R6387:4930522L14Rik	UTSW	5	109,884,881 (GRCm39)	missense	possibly damaging	0.88
R6509:4930522L14Rik	UTSW	5	109,885,250 (GRCm39)	nonsense	probably null
R6585:4930522L14Rik	UTSW	5	109,885,534 (GRCm39)	missense	probably damaging	1.00
R7309:4930522L14Rik	UTSW	5	109,884,819 (GRCm39)	missense	probably damaging	1.00
R7740:4930522L14Rik	UTSW	5	109,885,370 (GRCm39)	nonsense	probably null
R7877:4930522L14Rik	UTSW	5	109,884,230 (GRCm39)	missense	probably damaging	1.00
R8526:4930522L14Rik	UTSW	5	109,885,655 (GRCm39)	missense	possibly damaging	0.92
R8884:4930522L14Rik	UTSW	5	109,885,354 (GRCm39)	missense	probably damaging	0.98
R9047:4930522L14Rik	UTSW	5	109,885,420 (GRCm39)	missense
R9432:4930522L14Rik	UTSW	5	109,884,917 (GRCm39)	missense	unknown

Predicted Primers

Posted On

2013-04-16