Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01902:4931406B18Rik'

179560

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4931406B18Rik

Ensembl Gene

ENSMUSG00000013353

Gene Name

RIKEN cDNA 4931406B18 gene

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

IGL01902

Quality Score

Status

Chromosome

Chromosomal Location

43492044-43505940 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43497843 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 228 (S228P)

Ref Sequence

ENSEMBL: ENSMUSP00000126619 (fasta)

Gene Model

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

AlphaFold

A2RSL7

Predicted Effect

probably benign
Transcript: ENSMUST00000013497
AA Change: S322P

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000013497
Gene: ENSMUSG00000013353
AA Change: S322P

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

probably damaging
Transcript: ENSMUST00000163474
AA Change: S228P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126619
Gene: ENSMUSG00000013353
AA Change: S228P

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

probably benign
Transcript: ENSMUST00000171174
AA Change: S322P

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000129888
Gene: ENSMUSG00000013353
AA Change: S322P

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

probably benign
Transcript: ENSMUST00000191516
AA Change: S322P

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000139468
Gene: ENSMUSG00000013353
AA Change: S322P

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl2	A	T	2: 27,087,252	I242F	probably damaging	Het
Bicdl1	A	G	5: 115,651,874	L284P	probably damaging	Het
Bnc2	A	G	4: 84,390,944	I138T	probably damaging	Het
Cep350	A	G	1: 155,861,985	L2704S	probably damaging	Het
Col7a1	C	A	9: 108,977,827	P2442T	unknown	Het
Cpne6	A	T	14: 55,512,750	T113S	possibly damaging	Het
Crnkl1	T	C	2: 145,924,712		probably null	Het
Cyp2c67	T	A	19: 39,649,026	D2V	probably damaging	Het
Frzb	T	A	2: 80,413,367	S323C	probably damaging	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Gm5862	A	C	5: 26,022,771	W41G	probably benign	Het
Ins2	C	T	7: 142,679,442	C31Y	probably damaging	Het
Lipf	A	T	19: 33,970,779	N234Y	probably benign	Het
Mtf1	T	C	4: 124,804,927	F73L	probably damaging	Het
Nrxn1	A	G	17: 91,088,491		probably null	Het
Pcnx	A	G	12: 81,979,094	T1538A	probably damaging	Het
Polr1a	T	A	6: 71,963,748	V47D	probably damaging	Het
Prune2	A	G	19: 17,118,638	E502G	probably benign	Het
Ralgapa2	C	T	2: 146,315,014	V1886M	probably damaging	Het
Rapgef3	T	A	15: 97,750,300	H676L	probably benign	Het
Rbm20	A	T	19: 53,840,991	N607Y	probably damaging	Het
Smc5	G	A	19: 23,259,768	T233I	possibly damaging	Het
Snx13	A	T	12: 35,133,307		probably null	Het
Suz12	T	A	11: 80,025,950	C510S	probably benign	Het
Tab2	A	T	10: 7,919,992	M242K	probably benign	Het
Tep1	A	G	14: 50,866,091		probably benign	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het

Other mutations in 4931406B18Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01068:4931406B18Rik	APN	7	43504175	splice site	probably benign
IGL02616:4931406B18Rik	APN	7	43501013	splice site	probably null
IGL02677:4931406B18Rik	APN	7	43501095	nonsense	probably null
IGL03030:4931406B18Rik	APN	7	43495633	missense	possibly damaging	0.62
R0007:4931406B18Rik	UTSW	7	43498042	splice site	probably benign
R0788:4931406B18Rik	UTSW	7	43499199	missense	probably damaging	0.98
R1544:4931406B18Rik	UTSW	7	43498119	missense	possibly damaging	0.92
R2995:4931406B18Rik	UTSW	7	43499368	missense	probably damaging	1.00
R4656:4931406B18Rik	UTSW	7	43501141	missense	probably benign	0.20
R5595:4931406B18Rik	UTSW	7	43497872	missense	possibly damaging	0.92
R6288:4931406B18Rik	UTSW	7	43498125	missense	probably damaging	1.00
R6389:4931406B18Rik	UTSW	7	43497830	missense	possibly damaging	0.94
R6651:4931406B18Rik	UTSW	7	43498072	missense	possibly damaging	0.81
R6912:4931406B18Rik	UTSW	7	43501147	missense	possibly damaging	0.95
R7254:4931406B18Rik	UTSW	7	43498199	missense	probably damaging	0.99
R7615:4931406B18Rik	UTSW	7	43497849	missense	possibly damaging	0.64
R8167:4931406B18Rik	UTSW	7	43497864	missense	possibly damaging	0.79
R9052:4931406B18Rik	UTSW	7	43498207	nonsense	probably null
R9109:4931406B18Rik	UTSW	7	43499278	missense
R9182:4931406B18Rik	UTSW	7	43504216	missense	probably damaging	0.97
R9201:4931406B18Rik	UTSW	7	43501285	missense	possibly damaging	0.46

Posted On

2014-05-07