Mutagenetix > Incidental Mutation

Incidental Mutation 'R0788:4931406B18Rik'

76349

Institutional Source

Beutler Lab

Gene Symbol

4931406B18Rik

Ensembl Gene

ENSMUSG00000013353

Gene Name

RIKEN cDNA 4931406B18 gene

Synonyms

MMRRC Submission

038968-MU

Accession Numbers

Essential gene?

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

Stock #

R0788 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43141468-43155364 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 43148623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 196 (S196I)

Ref Sequence

ENSEMBL: ENSMUSP00000139468 (fasta)

Gene Model

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

AlphaFold

A2RSL7

Predicted Effect

probably damaging
Transcript: ENSMUST00000013497
AA Change: S196I

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000013497
Gene: ENSMUSG00000013353
AA Change: S196I

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 benign
Transcript: ENSMUST00000163474

SMART Domains

Protein: ENSMUSP00000126619
Gene: ENSMUSG00000013353

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

possibly damaging
Transcript: ENSMUST00000163619
AA Change: S99I

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131071
Gene: ENSMUSG00000013353
AA Change: S99I

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 damaging
Transcript: ENSMUST00000171174
AA Change: S196I

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129888
Gene: ENSMUSG00000013353
AA Change: S196I

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 damaging
Transcript: ENSMUST00000191516
AA Change: S196I

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139468
Gene: ENSMUSG00000013353
AA Change: S196I

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 96.9%
20x: 93.0%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,610,468 (GRCm39)	Y380*	probably null	Het
Ablim2	T	C	5: 36,015,245 (GRCm39)	S519P	probably benign	Het
Adnp2	A	C	18: 80,173,219 (GRCm39)	C397G	probably benign	Het
Aldh1l2	A	G	10: 83,352,028 (GRCm39)	S156P	probably damaging	Het
Bcl2l15	G	T	3: 103,740,794 (GRCm39)		probably null	Het
Brd9	T	A	13: 74,092,986 (GRCm39)		probably benign	Het
Cars2	A	C	8: 11,579,672 (GRCm39)	I262R	possibly damaging	Het
Ccdc106	T	C	7: 5,060,533 (GRCm39)		probably benign	Het
Cdh3	G	A	8: 107,268,047 (GRCm39)	V361M	probably benign	Het
Cdhr1	A	C	14: 36,809,332 (GRCm39)		probably null	Het
Cdk5rap2	A	G	4: 70,225,468 (GRCm39)	I559T	possibly damaging	Het
Cdkn2aip	T	A	8: 48,166,798 (GRCm39)	Q3L	possibly damaging	Het
Chd1	G	T	17: 15,927,376 (GRCm39)	V10F	possibly damaging	Het
Col4a4	G	A	1: 82,502,717 (GRCm39)	P356S	unknown	Het
Col6a4	T	C	9: 105,949,197 (GRCm39)	K813E	probably benign	Het
Cttnbp2	G	A	6: 18,423,834 (GRCm39)	T830I	probably damaging	Het
Cyp2t4	A	G	7: 26,854,588 (GRCm39)	M23V	probably null	Het
Cyp3a16	T	C	5: 145,401,886 (GRCm39)	K59E	probably benign	Het
Dpysl5	G	A	5: 30,946,185 (GRCm39)		probably null	Het
E130308A19Rik	T	A	4: 59,719,847 (GRCm39)	Y460N	possibly damaging	Het
Ear6	T	A	14: 52,091,487 (GRCm39)	C11*	probably null	Het
Fat1	C	T	8: 45,477,020 (GRCm39)	T1999M	probably benign	Het
Gsdmd	T	A	15: 75,736,103 (GRCm39)	C77*	probably null	Het
Hsp90ab1	ACTTCTT	ACTT	17: 45,880,425 (GRCm39)		probably benign	Het
Kif28	A	T	1: 179,532,788 (GRCm39)		probably benign	Het
Krt6b	A	G	15: 101,585,954 (GRCm39)	I373T	probably damaging	Het
Lgr5	T	C	10: 115,288,902 (GRCm39)	T509A	probably damaging	Het
Mapkbp1	C	T	2: 119,854,482 (GRCm39)	P1354S	probably benign	Het
Nat10	A	G	2: 103,573,460 (GRCm39)	S346P	probably damaging	Het
Ncoa2	T	C	1: 13,237,113 (GRCm39)		probably benign	Het
Necap1	C	T	6: 122,858,495 (GRCm39)	R113W	probably damaging	Het
Or1l4	T	A	2: 37,092,035 (GRCm39)	Y261N	possibly damaging	Het
Orc4	A	T	2: 48,827,479 (GRCm39)	V38E	possibly damaging	Het
Per1	G	A	11: 68,992,185 (GRCm39)		probably benign	Het
Polb	T	C	8: 23,132,354 (GRCm39)	D130G	probably null	Het
Ppcs	T	C	4: 119,279,375 (GRCm39)	N59S	probably damaging	Het
Ppp2ca	A	G	11: 52,003,969 (GRCm39)	E42G	possibly damaging	Het
Ptprf	T	C	4: 118,083,663 (GRCm39)	T807A	probably damaging	Het
Rapgef2	A	C	3: 79,006,502 (GRCm39)	F284V	possibly damaging	Het
Sestd1	A	T	2: 77,022,060 (GRCm39)	F544I	probably damaging	Het
Slfn3	G	A	11: 83,103,662 (GRCm39)	G178S	possibly damaging	Het
Supt6	G	A	11: 78,098,598 (GRCm39)		probably benign	Het
Tas2r109	T	A	6: 132,957,264 (GRCm39)	Q222L	probably benign	Het
Tekt4	A	C	17: 25,691,021 (GRCm39)	D109A	probably damaging	Het
Tob2	C	A	15: 81,735,903 (GRCm39)	R22L	probably damaging	Het
Ttn	T	G	2: 76,653,282 (GRCm39)	E178D	possibly damaging	Het
Ube2u	C	A	4: 100,371,937 (GRCm39)		probably benign	Het
Uggt2	A	G	14: 119,332,812 (GRCm39)		probably benign	Het
Vstm2a	T	C	11: 16,209,968 (GRCm39)	F65L	probably damaging	Het
Zfp57	A	G	17: 37,317,092 (GRCm39)		probably benign	Het
Znrf3	G	T	11: 5,231,320 (GRCm39)	P731Q	probably benign	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
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
R6651:4931406B18Rik	UTSW	7	43,147,496 (GRCm39)	missense	possibly damaging	0.81
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'- ACTTTGAGATCCAGAGGGCTTCTCC -3'
(R):5'- CCTGTGACTTTGAGCTGTACCATCC -3'

Sequencing Primer
(F):5'- TGGTGCTTGAAGTCCACAC -3'
(R):5'- TTTGAGCTGTACCATCCAAAGC -3'

Posted On

2013-10-16