Mutagenetix > Incidental Mutation

Incidental Mutation 'R6509:4930522L14Rik'

519863

Institutional Source

Beutler Lab

Gene Symbol

4930522L14Rik

Ensembl Gene

ENSMUSG00000072762

Gene Name

RIKEN cDNA 4930522L14 gene

Synonyms

Gm42152

MMRRC Submission

044422-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R6509 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

109883856-109899752 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 109885250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 203 (R203*)

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 null
Transcript: ENSMUST00000112547
AA Change: R203*

SMART Domains

Protein: ENSMUSP00000108166
Gene: ENSMUSG00000072762
AA Change: R203*

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.7%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccnc	A	G	4: 21,740,642 (GRCm39)	N133D	probably benign	Het
Cfap299	C	T	5: 98,477,256 (GRCm39)	T15I	probably benign	Het
Lbhd2	A	G	12: 111,376,747 (GRCm39)	R65G	possibly damaging	Het
Lrrc37a	A	G	11: 103,395,240 (GRCm39)	S62P	probably benign	Het
Map3k1	T	A	13: 111,890,363 (GRCm39)	M1279L	possibly damaging	Het
Ncapg2	G	A	12: 116,391,376 (GRCm39)	R475Q	probably damaging	Het
Nlrp5	A	T	7: 23,117,341 (GRCm39)	N355I	probably damaging	Het
Or7g29	A	G	9: 19,286,439 (GRCm39)	V246A	probably benign	Het
Pdzd8	A	G	19: 59,333,298 (GRCm39)	F241S	probably benign	Het
Rgl3	A	G	9: 21,883,204 (GRCm39)	S705P	probably benign	Het
Rsbn1	A	G	3: 103,867,348 (GRCm39)	Y563C	probably damaging	Het
Septin9	A	G	11: 117,181,253 (GRCm39)	I18V	probably benign	Het
Sycp2	G	A	2: 178,037,687 (GRCm39)	P153S	probably damaging	Het
Tbc1d4	C	A	14: 101,845,754 (GRCm39)	R48L	possibly damaging	Het
Vmn1r195	G	A	13: 22,463,279 (GRCm39)	G250R	probably benign	Het
Vmn2r66	G	T	7: 84,656,054 (GRCm39)	P321T	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
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
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'- TCGAAGTTGACCATGAAAAGC -3'
(R):5'- AGCCAATTACCTTTGCAGGAA -3'

Sequencing Primer
(F):5'- GACCATGAAAAGCAAAGGTTTTAC -3'
(R):5'- CAGTCAATGTGGTAAAGCCTATGC -3'

Posted On

2018-06-06