Mutagenetix > Incidental Mutation

Incidental Mutation 'R6651:4931406B18Rik'

527786

Institutional Source

Beutler Lab

Gene Symbol

4931406B18Rik

Ensembl Gene

ENSMUSG00000013353

Gene Name

RIKEN cDNA 4931406B18 gene

Synonyms

MMRRC Submission

044772-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R6651 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43141468-43155364 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 43147496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 198 (S198A)

Ref Sequence

ENSEMBL: ENSMUSP00000126619 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013497] [ENSMUST00000163474] [ENSMUST00000163619] [ENSMUST00000168213] [ENSMUST00000168883] [ENSMUST00000171174] [ENSMUST00000191516]

AlphaFold

A2RSL7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000013497
AA Change: S292A

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000013497
Gene: ENSMUSG00000013353
AA Change: S292A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
PDB:2ZG3\|A	24	185	9e-7	PDB
Blast:IG_like	119	185	3e-19	BLAST
low complexity region	186	205	N/A	INTRINSIC
SCOP:d1iray3	219	297	6e-3	SMART
transmembrane domain	311	333	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163474
AA Change: S198A

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126619
Gene: ENSMUSG00000013353
AA Change: S198A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Blast:IG_like	23	111	3e-12	BLAST
SCOP:d1he7a_	111	203	1e-3	SMART
Blast:IG_like	125	194	1e-5	BLAST
transmembrane domain	217	239	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163619

SMART Domains

Protein: ENSMUSP00000131071
Gene: ENSMUSG00000013353

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
PDB:2ZG3\|A	17	88	1e-5	PDB
Blast:IG_like	22	88	2e-21	BLAST
low complexity region	89	104	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168213

SMART Domains

Protein: ENSMUSP00000129928
Gene: ENSMUSG00000013353

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Blast:IG_like	23	119	2e-13	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168636

Predicted Effect

probably benign
Transcript: ENSMUST00000168883

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171174
AA Change: S292A

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129888
Gene: ENSMUSG00000013353
AA Change: S292A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Ig_2	113	216	5.6e-3	PFAM
Pfam:Ig_2	200	297	7.7e-3	PFAM
transmembrane domain	311	333	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000191516
AA Change: S292A

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000139468
Gene: ENSMUSG00000013353
AA Change: S292A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Ig_2	113	216	5.6e-3	PFAM
Pfam:Ig_2	200	297	7.7e-3	PFAM
transmembrane domain	311	333	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.7%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	A	T	9: 30,833,448 (GRCm39)	I29N	probably damaging	Het
Ankrd61	A	T	5: 143,830,438 (GRCm39)	I33N	probably damaging	Het
Arl6ip1	C	T	7: 117,728,708 (GRCm39)	R7H	probably benign	Het
Atp8a2	A	T	14: 60,011,470 (GRCm39)	D946E	probably benign	Het
Cc2d2b	A	T	19: 40,766,573 (GRCm39)	Q114L	probably damaging	Het
Ccdc163	T	A	4: 116,566,261 (GRCm39)	S16R	possibly damaging	Het
Chil6	C	T	3: 106,311,576 (GRCm39)	C68Y	probably damaging	Het
Cngb3	G	T	4: 19,375,231 (GRCm39)	R287L	probably benign	Het
Crem	C	T	18: 3,325,428 (GRCm39)	R16H	probably benign	Het
Cyp4f16	C	T	17: 32,763,118 (GRCm39)	R188C	probably benign	Het
Dap	A	G	15: 31,273,353 (GRCm39)	D46G	probably damaging	Het
Dnah7c	C	A	1: 46,688,500 (GRCm39)	T1890K	probably benign	Het
Dnah7c	A	G	1: 46,688,511 (GRCm39)	S1894G	probably benign	Het
Enam	T	C	5: 88,650,776 (GRCm39)	Y687H	probably damaging	Het
Fzd4	A	T	7: 89,054,010 (GRCm39)	D39V	possibly damaging	Het
Ggta1	G	T	2: 35,292,306 (GRCm39)	H334N	probably benign	Het
Golga3	C	T	5: 110,365,996 (GRCm39)	R1254*	probably null	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Helz2	C	T	2: 180,881,350 (GRCm39)	W377*	probably null	Het
Hfm1	T	C	5: 106,995,553 (GRCm39)	D1286G	probably benign	Het
Hhatl	T	C	9: 121,613,768 (GRCm39)	R425G	probably damaging	Het
Hivep3	G	A	4: 119,980,146 (GRCm39)	R1728H	probably damaging	Het
Hyal1	A	G	9: 107,456,570 (GRCm39)	Y419C	probably damaging	Het
Ighv8-12	A	T	12: 115,611,644 (GRCm39)	D84E	possibly damaging	Het
Itln1	A	G	1: 171,345,940 (GRCm39)	F271L	possibly damaging	Het
Klra7	C	A	6: 130,206,908 (GRCm39)	L64F	probably benign	Het
Kmt2a	A	T	9: 44,740,108 (GRCm39)	C1878*	probably null	Het
Mia2	C	A	12: 59,201,148 (GRCm39)	Q825K	possibly damaging	Het
Mmp12	C	A	9: 7,355,345 (GRCm39)	P294Q	possibly damaging	Het
Nedd4	A	G	9: 72,638,553 (GRCm39)	N480S	possibly damaging	Het
Or4c12b	A	T	2: 89,647,240 (GRCm39)	E190V	probably benign	Het
Or4e5	C	T	14: 52,728,250 (GRCm39)	R57Q	probably benign	Het
Pax6	T	A	2: 105,516,175 (GRCm39)	M151K	probably benign	Het
Pgm2	A	G	5: 64,269,437 (GRCm39)	Y508C	probably benign	Het
Ptpn20	T	C	14: 33,354,897 (GRCm39)	F324S	probably damaging	Het
Recql	A	G	6: 142,310,160 (GRCm39)		probably null	Het
Rerg	A	G	6: 137,033,384 (GRCm39)	V97A	probably damaging	Het
Rffl	C	A	11: 82,703,605 (GRCm39)	C106F	probably damaging	Het
Scaper	T	G	9: 55,765,788 (GRCm39)	N499T	probably benign	Het
Sfxn3	G	A	19: 45,038,354 (GRCm39)		probably null	Het
Slc36a4	A	G	9: 15,634,874 (GRCm39)	S139G	probably benign	Het
Slco2b1	T	A	7: 99,316,376 (GRCm39)	M385L	probably benign	Het
Smg8	T	C	11: 86,977,372 (GRCm39)	T70A	probably benign	Het
Spats2l	A	T	1: 57,985,336 (GRCm39)	K463M	probably damaging	Het
Thbs4	T	C	13: 92,893,044 (GRCm39)	I715V	probably benign	Het
Tmem234	T	A	4: 129,501,264 (GRCm39)	M113K	possibly damaging	Het
Vmn2r10	T	C	5: 109,143,488 (GRCm39)	I821V	probably null	Het
Vmn2r116	A	T	17: 23,607,805 (GRCm39)	K458*	probably null	Het
Vmn2r76	T	A	7: 85,878,059 (GRCm39)	N446I	possibly damaging	Het
Vmn2r95	T	A	17: 18,660,622 (GRCm39)	Y345N	probably damaging	Het

Other mutations in 4931406B18Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01068:4931406B18Rik	APN	7	43,153,599 (GRCm39)	splice site	probably benign
IGL01902:4931406B18Rik	APN	7	43,147,267 (GRCm39)	missense	probably damaging	0.96
IGL02616:4931406B18Rik	APN	7	43,150,437 (GRCm39)	splice site	probably null
IGL02677:4931406B18Rik	APN	7	43,150,519 (GRCm39)	nonsense	probably null
IGL03030:4931406B18Rik	APN	7	43,145,057 (GRCm39)	missense	possibly damaging	0.62
R0007:4931406B18Rik	UTSW	7	43,147,466 (GRCm39)	splice site	probably benign
R0788:4931406B18Rik	UTSW	7	43,148,623 (GRCm39)	missense	probably damaging	0.98
R1544:4931406B18Rik	UTSW	7	43,147,543 (GRCm39)	missense	possibly damaging	0.92
R2995:4931406B18Rik	UTSW	7	43,148,792 (GRCm39)	missense	probably damaging	1.00
R4656:4931406B18Rik	UTSW	7	43,150,565 (GRCm39)	missense	probably benign	0.20
R5595:4931406B18Rik	UTSW	7	43,147,296 (GRCm39)	missense	possibly damaging	0.92
R6288:4931406B18Rik	UTSW	7	43,147,549 (GRCm39)	missense	probably damaging	1.00
R6389:4931406B18Rik	UTSW	7	43,147,254 (GRCm39)	missense	possibly damaging	0.94
R6912:4931406B18Rik	UTSW	7	43,150,571 (GRCm39)	missense	possibly damaging	0.95
R7254:4931406B18Rik	UTSW	7	43,147,623 (GRCm39)	missense	probably damaging	0.99
R7615:4931406B18Rik	UTSW	7	43,147,273 (GRCm39)	missense	possibly damaging	0.64
R8167:4931406B18Rik	UTSW	7	43,147,288 (GRCm39)	missense	possibly damaging	0.79
R9052:4931406B18Rik	UTSW	7	43,147,631 (GRCm39)	nonsense	probably null
R9109:4931406B18Rik	UTSW	7	43,148,702 (GRCm39)	missense
R9182:4931406B18Rik	UTSW	7	43,153,640 (GRCm39)	missense	probably damaging	0.97
R9201:4931406B18Rik	UTSW	7	43,150,709 (GRCm39)	missense	possibly damaging	0.46
R9787:4931406B18Rik	UTSW	7	43,150,695 (GRCm39)	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- TGGATTAGACCTCTCAGGAACAC -3'
(R):5'- ATGTAGCTGTTCCTTCCATGGG -3'

Sequencing Primer
(F):5'- CACACTAGAAACGGAGCTTTTATCTG -3'
(R):5'- GGGATCCCCACACCTTTG -3'

Posted On

2018-07-23