Mutagenetix > Incidental Mutation

Incidental Mutation 'R5461:4930522L14Rik'

433013

Institutional Source

Beutler Lab

Gene Symbol

4930522L14Rik

Ensembl Gene

ENSMUSG00000072762

Gene Name

RIKEN cDNA 4930522L14 gene

Synonyms

Gm42152

MMRRC Submission

043023-MU

Accession Numbers

Essential gene?

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

Stock #

R5461 (G1)

Quality Score

130

Status

Validated

Chromosome

Chromosomal Location

109883856-109899752 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 109884643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 405 (I405K)

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

possibly damaging
Transcript: ENSMUST00000112547
AA Change: I405K

PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108166
Gene: ENSMUSG00000072762
AA Change: I405K

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

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	A	16: 4,682,227 (GRCm39)	G180E	probably damaging	Het
Adgrg6	A	T	10: 14,296,248 (GRCm39)	W1079R	probably damaging	Het
Arsa	T	C	15: 89,357,478 (GRCm39)	H495R	probably benign	Het
Bptf	T	C	11: 106,952,590 (GRCm39)	T2088A	probably damaging	Het
Brsk2	T	C	7: 141,541,643 (GRCm39)	L152P	probably damaging	Het
C8a	T	C	4: 104,673,042 (GRCm39)		probably benign	Het
Ccdc177	G	A	12: 80,804,816 (GRCm39)	A486V	unknown	Het
Cpa2	A	G	6: 30,544,180 (GRCm39)	T38A	probably benign	Het
Crim1	T	G	17: 78,545,236 (GRCm39)	C133G	probably damaging	Het
Dnah2	C	T	11: 69,364,177 (GRCm39)		probably null	Het
Ep400	G	A	5: 110,824,550 (GRCm39)	Q2392*	probably null	Het
Exoc2	C	T	13: 31,109,738 (GRCm39)	S210N	possibly damaging	Het
Gm7003	A	G	12: 113,766,847 (GRCm39)		probably benign	Het
Hydin	A	G	8: 111,245,863 (GRCm39)	K2192R	probably damaging	Het
Ica1l	T	C	1: 60,053,010 (GRCm39)	D176G	probably damaging	Het
Ints10	G	A	8: 69,246,693 (GRCm39)	E8K	possibly damaging	Het
Itgb8	T	C	12: 119,131,740 (GRCm39)	E635G	probably benign	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Kng1	A	G	16: 22,897,887 (GRCm39)	H429R	probably benign	Het
Mcm3	T	C	1: 20,884,661 (GRCm39)	I281V	probably benign	Het
Msi1	T	C	5: 115,579,450 (GRCm39)	S200P	possibly damaging	Het
Nat3	T	C	8: 68,000,514 (GRCm39)	L131P	probably damaging	Het
Ncor2	T	C	5: 125,104,177 (GRCm39)	E1752G	probably damaging	Het
Nnt	C	T	13: 119,505,131 (GRCm39)	A414T	possibly damaging	Het
Nrp2	C	T	1: 62,786,370 (GRCm39)	Q292*	probably null	Het
Or51ah3	T	A	7: 103,209,780 (GRCm39)	L32Q	probably damaging	Het
Or52k2	G	A	7: 102,253,615 (GRCm39)	G18D	probably damaging	Het
Otop1	A	T	5: 38,457,059 (GRCm39)	I273F	probably damaging	Het
Phactr3	T	A	2: 177,920,694 (GRCm39)	N177K	probably benign	Het
Pik3c2b	C	T	1: 133,027,440 (GRCm39)	T1313I	possibly damaging	Het
Pikfyve	C	A	1: 65,274,192 (GRCm39)	D677E	probably damaging	Het
Poc1a	T	C	9: 106,165,209 (GRCm39)	F157L	probably damaging	Het
Prodh2	G	T	7: 30,193,948 (GRCm39)	R185L	possibly damaging	Het
Rcc1	T	C	4: 132,061,497 (GRCm39)	I350M	probably benign	Het
Rhd	G	A	4: 134,611,928 (GRCm39)	A249T	probably damaging	Het
Rtf2	A	G	2: 172,287,252 (GRCm39)	Y57C	probably damaging	Het
Shmt1	A	G	11: 60,685,725 (GRCm39)	S284P	possibly damaging	Het
Shpk	T	C	11: 73,090,361 (GRCm39)	V6A	probably benign	Het
Slc4a5	T	C	6: 83,262,836 (GRCm39)	V661A	probably benign	Het
Spesp1	A	T	9: 62,180,014 (GRCm39)	L298Q	probably damaging	Het
Tas1r2	C	A	4: 139,387,320 (GRCm39)	Q231K	probably benign	Het
Tcp11l1	T	C	2: 104,518,856 (GRCm39)	Y280C	probably benign	Het
Tnip1	T	C	11: 54,801,625 (GRCm39)		probably benign	Het
Topbp1	T	A	9: 103,192,395 (GRCm39)	D295E	probably benign	Het
Unc79	C	T	12: 103,078,397 (GRCm39)	L1521F	probably damaging	Het
Usp10	T	C	8: 120,683,406 (GRCm39)	I759T	probably benign	Het
Vmn1r30	A	T	6: 58,412,759 (GRCm39)	C24*	probably null	Het
Vmn2r104	T	A	17: 20,250,343 (GRCm39)	I643F	probably damaging	Het
Wwc1	T	A	11: 35,758,199 (GRCm39)	T716S	probably damaging	Het
Zfp949	C	T	9: 88,451,537 (GRCm39)	T369M	probably benign	Het
Zhx3	A	G	2: 160,621,938 (GRCm39)	V743A	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
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
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'- AGGGCTTCTCTCCAGTATGG -3'
(R):5'- AGAAGCCCTATGAATGTAAGCA -3'

Sequencing Primer
(F):5'- CACACTGATCACACTTGTAAGGTGTC -3'
(R):5'- CCCTATGAATGTAAGCAATGTGGC -3'

Posted On

2016-10-06