Mutagenetix > Incidental Mutation

Incidental Mutation 'R7254:4931406B18Rik'

564135

Institutional Source

Beutler Lab

Gene Symbol

4931406B18Rik

Ensembl Gene

ENSMUSG00000013353

Gene Name

RIKEN cDNA 4931406B18 gene

Synonyms

MMRRC Submission

045315-MU

Accession Numbers

Essential gene?

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

Stock #

R7254 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43141468-43155364 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43147623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 249 (D249E)

Ref Sequence

ENSEMBL: ENSMUSP00000013497 (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: D249E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000013497
Gene: ENSMUSG00000013353
AA Change: D249E

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: D155E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126619
Gene: ENSMUSG00000013353
AA Change: D155E

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

probably benign
Transcript: ENSMUST00000168883

Predicted Effect

probably damaging
Transcript: ENSMUST00000171174
AA Change: D249E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129888
Gene: ENSMUSG00000013353
AA Change: D249E

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: D249E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139468
Gene: ENSMUSG00000013353
AA Change: D249E

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	C	5: 114,347,812 (GRCm39)		probably null	Het
Adnp	A	G	2: 168,025,918 (GRCm39)	V459A	probably damaging	Het
Arid3b	T	C	9: 57,704,037 (GRCm39)	K304E	probably damaging	Het
Ash1l	G	T	3: 88,977,816 (GRCm39)	R2713L	probably damaging	Het
Bmpr1a	A	C	14: 34,136,720 (GRCm39)	D490E	probably benign	Het
Cacna1g	A	T	11: 94,323,393 (GRCm39)	C1270*	probably null	Het
Cep295nl	G	T	11: 118,223,866 (GRCm39)	P326Q	probably damaging	Het
Cfap100	T	C	6: 90,383,043 (GRCm39)	I377V	unknown	Het
Creb1	C	T	1: 64,615,436 (GRCm39)	Q223*	probably null	Het
Ctsc	G	A	7: 87,958,767 (GRCm39)	G349D	probably damaging	Het
Ddx41	G	A	13: 55,681,769 (GRCm39)	R311*	probably null	Het
Dpcd	A	G	19: 45,565,473 (GRCm39)	Q149R	probably benign	Het
Dse	T	A	10: 34,060,144 (GRCm39)		probably benign	Het
Dync2i1	A	G	12: 116,226,205 (GRCm39)		probably benign	Het
Eef2k	C	T	7: 120,488,488 (GRCm39)	H458Y	probably benign	Het
Gipr	A	T	7: 18,897,538 (GRCm39)	V90E	probably damaging	Het
Gm14412	A	T	2: 177,009,189 (GRCm39)	D22E	probably damaging	Het
Gm21886	A	T	18: 80,132,950 (GRCm39)	C69*	probably null	Het
Gm5114	G	A	7: 39,058,390 (GRCm39)	L410F	probably benign	Het
Gmip	T	A	8: 70,269,118 (GRCm39)		probably null	Het
Gtf2f1	T	C	17: 57,314,101 (GRCm39)	T128A	possibly damaging	Het
Hnrnpr	A	G	4: 136,059,886 (GRCm39)	E330G	possibly damaging	Het
Hoxd9	T	A	2: 74,528,718 (GRCm39)	W107R	probably damaging	Het
Iars1	T	C	13: 49,876,554 (GRCm39)		probably null	Het
Idh2	TCCCAGGGCC	TCC	7: 79,748,079 (GRCm39)		probably null	Het
Ifi213	G	T	1: 173,421,529 (GRCm39)	P120Q	probably damaging	Het
Il6	A	T	5: 30,219,906 (GRCm39)	Q94L	probably benign	Het
Kcnab1	A	G	3: 65,226,908 (GRCm39)	S196G	probably benign	Het
Kcnv1	C	T	15: 44,976,604 (GRCm39)	V228I	probably benign	Het
Lars2	A	G	9: 123,284,028 (GRCm39)	T739A	possibly damaging	Het
Med13	T	C	11: 86,210,661 (GRCm39)	S494G	probably benign	Het
Mtrf1	GCCTTC	GC	14: 79,660,931 (GRCm39)		probably null	Het
Myh9	T	G	15: 77,650,024 (GRCm39)	Q1646P	probably damaging	Het
Nif3l1	T	A	1: 58,489,625 (GRCm39)	S171R	probably benign	Het
Or13n4	A	G	7: 106,422,777 (GRCm39)	*319Q	probably null	Het
Or1e1c	A	G	11: 73,266,201 (GRCm39)	I212V	probably benign	Het
Or1r1	A	G	11: 73,874,603 (GRCm39)	V277A	probably benign	Het
Or51f23	A	G	7: 102,452,765 (GRCm39)	T27A	probably benign	Het
Or5b113	A	T	19: 13,342,475 (GRCm39)	D161V	probably benign	Het
Or6c5b	T	C	10: 129,245,649 (GRCm39)	V138A	probably benign	Het
Or8c8	T	C	9: 38,164,719 (GRCm39)	M2T	probably benign	Het
Pak5	A	T	2: 135,958,684 (GRCm39)	S135T	possibly damaging	Het
Prr29	A	T	11: 106,265,684 (GRCm39)	M1L	probably damaging	Het
Ptpn13	T	A	5: 103,742,502 (GRCm39)	V2407E	probably damaging	Het
Ralgapa1	T	A	12: 55,741,978 (GRCm39)	H1310L	probably damaging	Het
Raph1	T	C	1: 60,538,767 (GRCm39)	S393G	unknown	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Ror2	A	G	13: 53,272,756 (GRCm39)	I303T	possibly damaging	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Scn10a	C	T	9: 119,447,921 (GRCm39)	D1378N	probably damaging	Het
Serpinc1	T	A	1: 160,821,188 (GRCm39)	C91S	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spata31d1e	T	C	13: 59,889,790 (GRCm39)	I677V	probably benign	Het
Tada1	T	A	1: 166,216,217 (GRCm39)	C139*	probably null	Het
Tbr1	T	A	2: 61,636,386 (GRCm39)	V254E	probably damaging	Het
Timd4	A	T	11: 46,734,016 (GRCm39)	I340F	probably benign	Het
Tubb2a	T	C	13: 34,258,515 (GRCm39)	Y425C	probably damaging	Het
Zfp292	A	T	4: 34,819,476 (GRCm39)	M287K	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
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
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'- ATGTTTGTGCTCATCCTGGC -3'
(R):5'- TGAGTGAACGTGTGGATCTC -3'

Sequencing Primer
(F):5'- AGTGCTGGCCTTCCACC -3'
(R):5'- AGTGAACGTGTGGATCTCTCTCTC -3'

Posted On

2019-06-26