Mutagenetix > Incidental Mutations

Incidental Mutation 'R6585:4930522L14Rik'

524333

Institutional Source

Beutler Lab

Gene Symbol

4930522L14Rik

Ensembl Gene

ENSMUSG00000072762

Gene Name

RIKEN cDNA 4930522L14 gene

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R6585 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109735990-109751886 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 109737668 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 108 (C108Y)

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: C108Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108166
Gene: ENSMUSG00000072762
AA Change: C108Y

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

97% (30/31)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA792892	C	T	5: 94,381,556	P62S	probably benign	Het
Adam1b	G	T	5: 121,501,187	D598E	probably benign	Het
Agr2	G	A	12: 35,995,626	R37Q	probably benign	Het
Ascc3	A	G	10: 50,842,177	K1989E	probably benign	Het
Chd1l	A	G	3: 97,597,772	F160L	probably damaging	Het
Ciita	T	A	16: 10,511,745	V628E	probably benign	Het
Dis3l2	T	A	1: 86,745,494	I69N	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Elp2	T	C	18: 24,625,549	L503S	probably damaging	Het
Fcgbp	A	T	7: 28,113,979	Q2313L	possibly damaging	Het
Gm14851	A	G	8: 21,095,232	C65R	possibly damaging	Het
Gpr155	A	T	2: 73,349,645	I157N	probably damaging	Het
Hist2h2bb	A	T	3: 96,270,097	T116S	probably benign	Het
Kcnj1	T	C	9: 32,397,261	V307A	probably benign	Het
Lama3	G	A	18: 12,419,257		probably null	Het
Lrp6	A	T	6: 134,507,558	Y367*	probably null	Het
Ms4a14	T	A	19: 11,303,645	Q516H	unknown	Het
Nprl3	C	T	11: 32,234,812	R399Q	probably benign	Het
Olfr273	A	T	4: 52,856,192	M107K	possibly damaging	Het
Olfr290	A	T	7: 84,916,462	I228F	probably damaging	Het
Park7	G	T	4: 150,905,264	Q80K	probably benign	Het
Pramef20	C	A	4: 144,377,030	L175F	possibly damaging	Het
Ptgs2	T	C	1: 150,103,987	V281A	possibly damaging	Het
Rprd1a	T	C	18: 24,506,663		probably null	Het
Speer4f2	A	G	5: 17,374,422	E73G	probably damaging	Het
Spta1	T	C	1: 174,178,685	W138R	probably damaging	Het
U2surp	T	C	9: 95,472,071	E838G	probably damaging	Het
Urb2	G	T	8: 124,031,125	E1190D	probably damaging	Het
Usp19	G	T	9: 108,499,727	L1165F	probably damaging	Het
Zfp27	G	A	7: 29,896,393	T49I	possibly damaging	Het

Other mutations in 4930522L14Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02622:4930522L14Rik	APN	5	109739235	missense	possibly damaging	0.86
R0164:4930522L14Rik	UTSW	5	109736847	missense	probably damaging	0.96
R0164:4930522L14Rik	UTSW	5	109736847	missense	probably damaging	0.96
R0432:4930522L14Rik	UTSW	5	109736919	missense	probably damaging	1.00
R0463:4930522L14Rik	UTSW	5	109737060	unclassified	probably benign
R0891:4930522L14Rik	UTSW	5	109736290	missense	possibly damaging	0.47
R1289:4930522L14Rik	UTSW	5	109736890	nonsense	probably null
R1637:4930522L14Rik	UTSW	5	109738992	missense	probably benign	0.01
R1764:4930522L14Rik	UTSW	5	109736789	missense	probably benign	0.22
R1793:4930522L14Rik	UTSW	5	109736278	missense	probably damaging	1.00
R1860:4930522L14Rik	UTSW	5	109736232	missense	probably damaging	1.00
R1899:4930522L14Rik	UTSW	5	109736798	missense	probably benign	0.04
R2135:4930522L14Rik	UTSW	5	109737643	missense	probably benign	0.00
R2143:4930522L14Rik	UTSW	5	109736750	missense	probably damaging	1.00
R2877:4930522L14Rik	UTSW	5	109738945	splice site	probably benign
R3847:4930522L14Rik	UTSW	5	109736324	splice site	probably null
R4431:4930522L14Rik	UTSW	5	109736574	missense	possibly damaging	0.47
R4578:4930522L14Rik	UTSW	5	109736671	nonsense	probably null
R4611:4930522L14Rik	UTSW	5	109737393	missense	probably benign	0.00
R4776:4930522L14Rik	UTSW	5	109736873	missense	probably benign	0.22
R4921:4930522L14Rik	UTSW	5	109737796	missense	probably benign	0.25
R4937:4930522L14Rik	UTSW	5	109736201	missense	probably benign	0.12
R4952:4930522L14Rik	UTSW	5	109739197	critical splice donor site	probably null
R4980:4930522L14Rik	UTSW	5	109737426	missense	probably damaging	1.00
R5079:4930522L14Rik	UTSW	5	109737330	missense	probably benign
R5088:4930522L14Rik	UTSW	5	109736073	missense	probably damaging	1.00
R5143:4930522L14Rik	UTSW	5	109739198	critical splice donor site	probably null
R5183:4930522L14Rik	UTSW	5	109739305	missense	probably damaging	1.00
R5461:4930522L14Rik	UTSW	5	109736777	missense	possibly damaging	0.74
R5498:4930522L14Rik	UTSW	5	109737547	missense	probably benign	0.05
R5576:4930522L14Rik	UTSW	5	109737704	missense	probably benign	0.00
R6081:4930522L14Rik	UTSW	5	109739231	missense	probably damaging	1.00
R6387:4930522L14Rik	UTSW	5	109737015	missense	possibly damaging	0.88
R6509:4930522L14Rik	UTSW	5	109737384	nonsense	probably null
R7309:4930522L14Rik	UTSW	5	109736953	missense	probably damaging	1.00
R7740:4930522L14Rik	UTSW	5	109737504	nonsense	probably null
R7877:4930522L14Rik	UTSW	5	109736364	missense	probably damaging	1.00
R8526:4930522L14Rik	UTSW	5	109737789	missense	possibly damaging	0.92
R8884:4930522L14Rik	UTSW	5	109737488	missense	probably damaging	0.98
R9047:4930522L14Rik	UTSW	5	109737554	missense
R9432:4930522L14Rik	UTSW	5	109737051	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CATAGGGTTTGTGTTCAGTATGCA -3'
(R):5'- AGAAGGATTCTATAAATGTGAGCCAT -3'

Sequencing Primer
(F):5'- GCATTCGAAGATTACCAGGGTATAC -3'
(R):5'- GTGAGCCATGTAATAACACTCTTACC -3'

Posted On

2018-06-22