Mutagenetix > Incidental Mutation

Incidental Mutation 'R3847:4930522L14Rik'

277423

Institutional Source

Beutler Lab

Gene Symbol

4930522L14Rik

Ensembl Gene

ENSMUSG00000072762

Gene Name

RIKEN cDNA 4930522L14 gene

Synonyms

Gm42152

MMRRC Submission

040895-MU

Accession Numbers

Essential gene?

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

Stock #

R3847 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109883856-109899752 bp(-) (GRCm39)

Type of Mutation

splice site (2507 bp from exon)

DNA Base Change (assembly)

T to C at 109884190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000098497 (fasta)

Gene Model

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

AlphaFold

E9QAG4

Predicted Effect

probably null
Transcript: ENSMUST00000100937

SMART Domains

Protein: ENSMUSP00000098497
Gene: ENSMUSG00000072762

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

Predicted Effect

probably benign
Transcript: ENSMUST00000112547
AA Change: D556G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000108166
Gene: ENSMUSG00000072762
AA Change: D556G

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

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	C	T	8: 87,280,020 (GRCm39)	E338K	probably benign	Het
Abcc5	A	T	16: 20,190,906 (GRCm39)	S815T	probably benign	Het
Ankrd16	G	A	2: 11,794,619 (GRCm39)	E335K	probably benign	Het
Atm	A	G	9: 53,414,375 (GRCm39)	F905S	possibly damaging	Het
Bckdha	C	T	7: 25,331,077 (GRCm39)	R281H	probably damaging	Het
Blvra	C	T	2: 126,937,111 (GRCm39)	T188I	probably damaging	Het
Bmp8b	C	A	4: 123,009,961 (GRCm39)		probably benign	Het
Cacna2d3	A	G	14: 29,069,077 (GRCm39)		probably null	Het
Cacng8	T	C	7: 3,442,990 (GRCm39)	S84P	probably damaging	Het
Cad	T	A	5: 31,218,994 (GRCm39)	V605E	probably damaging	Het
Ccny	A	G	18: 9,449,641 (GRCm39)	S11P	probably benign	Het
Col3a1	C	A	1: 45,361,150 (GRCm39)	P112T	unknown	Het
Corin	T	C	5: 72,579,508 (GRCm39)	E155G	probably benign	Het
Cul9	T	C	17: 46,836,061 (GRCm39)	Y1195C	probably damaging	Het
Cyp27a1	A	G	1: 74,776,718 (GRCm39)	E501G	probably damaging	Het
Dennd3	T	A	15: 73,414,581 (GRCm39)	N457K	possibly damaging	Het
Dnah7a	T	G	1: 53,540,815 (GRCm39)	I2520L	probably benign	Het
Dst	C	T	1: 34,251,400 (GRCm39)	S4165F	probably damaging	Het
Fgf14	A	C	14: 124,217,801 (GRCm39)	I234R	probably benign	Het
Foxp4	A	G	17: 48,186,453 (GRCm39)	I442T	unknown	Het
Gad2	T	G	2: 22,575,000 (GRCm39)	D472E	probably benign	Het
Garnl3	G	T	2: 32,882,240 (GRCm39)	H832N	probably benign	Het
Gm13941	T	C	2: 110,935,198 (GRCm39)	M11V	unknown	Het
Gnptab	T	A	10: 88,269,439 (GRCm39)	L714*	probably null	Het
Golgb1	C	A	16: 36,719,095 (GRCm39)	Q334K	probably benign	Het
Gp9	A	G	6: 87,756,133 (GRCm39)	I49M	probably benign	Het
Guf1	A	G	5: 69,718,500 (GRCm39)	N213S	probably damaging	Het
H2-K2	T	G	17: 34,216,303 (GRCm39)	H281P	probably damaging	Het
Hhip	T	A	8: 80,724,124 (GRCm39)	M373L	probably benign	Het
Ifi203	C	T	1: 173,761,362 (GRCm39)	C229Y	possibly damaging	Het
Ighv13-2	A	G	12: 114,321,418 (GRCm39)	L88S	probably damaging	Het
Kcna3	T	C	3: 106,944,012 (GRCm39)	Y92H	possibly damaging	Het
Lmo7	A	G	14: 102,159,531 (GRCm39)		probably null	Het
Lrguk	A	G	6: 34,050,703 (GRCm39)	D387G	probably damaging	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Mknk2	C	T	10: 80,503,809 (GRCm39)	W367*	probably null	Het
Mocos	A	G	18: 24,809,719 (GRCm39)	K441E	probably damaging	Het
Mpnd	T	C	17: 56,318,692 (GRCm39)	S150P	probably damaging	Het
Naip2	G	C	13: 100,315,941 (GRCm39)	L280V	probably damaging	Het
Naip2	A	T	13: 100,315,940 (GRCm39)	L280Q	probably damaging	Het
Neurod4	C	T	10: 130,106,351 (GRCm39)	V308I	probably benign	Het
Nxf3	C	T	X: 134,974,732 (GRCm39)	V474I	probably benign	Het
Or10d5j	A	T	9: 39,867,877 (GRCm39)	M118K	probably damaging	Het
Or8u10	A	T	2: 85,915,751 (GRCm39)	Y123*	probably null	Het
Pam	T	A	1: 97,782,481 (GRCm39)		probably benign	Het
Pde5a	T	C	3: 122,596,809 (GRCm39)	Y467H	probably damaging	Het
Pibf1	T	A	14: 99,374,557 (GRCm39)	V332E	possibly damaging	Het
Plxna1	C	A	6: 89,333,501 (GRCm39)	R376L	probably damaging	Het
Proz	A	G	8: 13,123,533 (GRCm39)	E268G	probably benign	Het
Rimbp3	A	T	16: 17,028,163 (GRCm39)	H529L	probably benign	Het
Rnf103	C	G	6: 71,485,859 (GRCm39)	C163W	probably damaging	Het
Rnf17	T	C	14: 56,749,753 (GRCm39)	V1433A	probably damaging	Het
Septin11	G	T	5: 93,310,026 (GRCm39)	M276I	probably damaging	Het
Slc30a4	A	G	2: 122,544,192 (GRCm39)	V50A	probably damaging	Het
Sorbs1	A	G	19: 40,302,887 (GRCm39)	V570A	probably damaging	Het
Spout1	T	C	2: 30,067,419 (GRCm39)		probably null	Het
Syne2	T	C	12: 76,095,396 (GRCm39)	L5241P	probably damaging	Het
Tas2r110	T	A	6: 132,845,638 (GRCm39)	I223N	probably damaging	Het
Tead2	T	A	7: 44,881,752 (GRCm39)		probably null	Het
Thsd1	A	G	8: 22,749,427 (GRCm39)	H713R	probably damaging	Het
Ttc21b	A	G	2: 66,073,023 (GRCm39)	L221S	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn2r105	A	G	17: 20,428,952 (GRCm39)	I708T	possibly damaging	Het
Vmn2r117	G	T	17: 23,679,389 (GRCm39)	H612N	probably damaging	Het
Wnk1	C	T	6: 119,946,315 (GRCm39)	G613S	possibly damaging	Het
Zbtb41	T	A	1: 139,351,734 (GRCm39)	H282Q	probably benign	Het
Zfp335	C	A	2: 164,742,026 (GRCm39)		probably null	Het
Zmym2	T	A	14: 57,158,956 (GRCm39)		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
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
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

PCR Primer
(F):5'- CATCACACCTTTCAATATCACTGT -3'
(R):5'- TGTGATCAGTGTGGCAAAGC -3'

Sequencing Primer
(F):5'- GCCACATTGCTTACATTCATAGGG -3'
(R):5'- AGCCTTTGCATATCATAGTATGTTCC -3'

Posted On

2015-04-06