Mutagenetix > Incidental Mutation

Incidental Mutation 'V7583:Numbl'

152650

Institutional Source

Beutler Lab

Gene Symbol

Numbl

Ensembl Gene

ENSMUSG00000063160

Gene Name

numb-like

Synonyms

nbl

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

V7583 () of strain stinger

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26957884-26981570 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26979027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 379 (S379P)

Ref Sequence

ENSEMBL: ENSMUSP00000078245 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079258]

AlphaFold

O08919

Predicted Effect

probably benign
Transcript: ENSMUST00000079258
AA Change: S379P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000078245
Gene: ENSMUSG00000063160
AA Change: S379P

Domain	Start	End	E-Value	Type
PTB	75	205	1.11e-38	SMART
low complexity region	234	260	N/A	INTRINSIC
Pfam:NumbF	287	371	3.5e-32	PFAM
coiled coil region	417	444	N/A	INTRINSIC
low complexity region	532	574	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149805

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable and exhibit no overt phenotypes except for a reduction in female fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	A	T	4: 122,595,050 (GRCm39)	H102L	possibly damaging	Het
Atp6v1h	A	G	1: 5,194,666 (GRCm39)	T282A	possibly damaging	Het
Cdc42bpb	C	T	12: 111,262,825 (GRCm39)	G1501S	probably benign	Het
D630003M21Rik	T	C	2: 158,042,931 (GRCm39)	T870A	probably benign	Het
Dcaf4	C	A	12: 83,584,475 (GRCm39)		probably null	Het
Dnajc22	T	A	15: 98,999,363 (GRCm39)	Y183N	probably damaging	Het
Dpyd	C	T	3: 118,690,775 (GRCm39)	Q295*	probably null	Het
Dync2i1	A	C	12: 116,175,460 (GRCm39)	S906A	possibly damaging	Het
Erv3	T	C	2: 131,697,846 (GRCm39)	H171R	possibly damaging	Het
Fam221b	T	C	4: 43,665,865 (GRCm39)	T249A	probably benign	Het
Fcgr1	T	C	3: 96,191,592 (GRCm39)	*405W	probably null	Het
Gm10770	T	A	2: 150,021,404 (GRCm39)	K38*	probably null	Het
Golga4	A	G	9: 118,385,143 (GRCm39)	E727G	possibly damaging	Het
Hnrnpab	A	T	11: 51,493,451 (GRCm39)	N252K	probably benign	Het
Ing1	T	C	8: 11,611,934 (GRCm39)	V124A	probably damaging	Het
Izumo4	A	T	10: 80,539,725 (GRCm39)	T155S	probably benign	Het
Kcnb2	A	G	1: 15,780,315 (GRCm39)	I396V	probably benign	Het
Lrp4	C	T	2: 91,318,863 (GRCm39)	S900L	possibly damaging	Het
Mbd5	A	G	2: 49,206,422 (GRCm39)	D1713G	probably damaging	Het
Muc6	T	G	7: 141,233,880 (GRCm39)	E808A	probably benign	Het
Mylk	G	T	16: 34,815,574 (GRCm39)		probably null	Het
Nbeal2	A	G	9: 110,467,005 (GRCm39)	V670A	possibly damaging	Het
Nphp3	T	C	9: 103,913,093 (GRCm39)		probably null	Het
Otop3	T	A	11: 115,235,664 (GRCm39)	L432Q	probably damaging	Het
Pelp1	T	A	11: 70,288,976 (GRCm39)	T257S	probably damaging	Het
Pigx	T	C	16: 31,906,240 (GRCm39)	D129G	probably damaging	Het
Pik3cd	A	C	4: 149,741,776 (GRCm39)	L390R	probably damaging	Het
Plekhb1	T	C	7: 100,303,825 (GRCm39)	T112A	probably benign	Het
Recql4	T	C	15: 76,590,369 (GRCm39)	D705G	possibly damaging	Het
Ror1	A	G	4: 100,298,130 (GRCm39)	Q501R	probably damaging	Het
Sirpb1b	A	G	3: 15,568,243 (GRCm39)	V366A	probably benign	Het
Slc30a4	T	A	2: 122,531,458 (GRCm39)	M136L	probably benign	Het
Spaca1	T	C	4: 34,039,311 (GRCm39)	E192G	probably damaging	Het
Spata31	C	A	13: 65,069,462 (GRCm39)	P537T	probably benign	Het
Tnrc6c	G	A	11: 117,614,152 (GRCm39)	R770H	probably damaging	Het
Toe1	A	T	4: 116,663,308 (GRCm39)	N56K	probably damaging	Het
Tprkb	A	G	6: 85,905,764 (GRCm39)	K150E	probably damaging	Het
Trps1	T	C	15: 50,694,973 (GRCm39)	K150E	probably damaging	Het
Tspyl3	A	G	2: 153,066,980 (GRCm39)	V86A	probably benign	Het
Vps18	A	G	2: 119,127,709 (GRCm39)	Y844C	probably benign	Het
Wdr72	T	A	9: 74,064,552 (GRCm39)	I528N	probably damaging	Het
Zfp292	C	T	4: 34,806,783 (GRCm39)	C2087Y	possibly damaging	Het
Zfp933	G	A	4: 147,910,927 (GRCm39)	A223V	probably damaging	Het
Zmynd8	G	A	2: 165,654,314 (GRCm39)	R724*	probably null	Het

Other mutations in Numbl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00976:Numbl	APN	7	26,968,235 (GRCm39)	missense	possibly damaging	0.50
IGL01389:Numbl	APN	7	26,980,472 (GRCm39)	missense	possibly damaging	0.94
IGL02671:Numbl	APN	7	26,964,327 (GRCm39)	missense	probably damaging	1.00
F5770:Numbl	UTSW	7	26,979,027 (GRCm39)	missense	probably benign
R0212:Numbl	UTSW	7	26,980,184 (GRCm39)	missense	probably damaging	1.00
R0709:Numbl	UTSW	7	26,973,415 (GRCm39)	missense	probably damaging	1.00
R1768:Numbl	UTSW	7	26,980,379 (GRCm39)	missense	probably benign
R2181:Numbl	UTSW	7	26,968,346 (GRCm39)	critical splice donor site	probably null
R5071:Numbl	UTSW	7	26,980,415 (GRCm39)	missense	probably damaging	1.00
R5072:Numbl	UTSW	7	26,980,415 (GRCm39)	missense	probably damaging	1.00
R5074:Numbl	UTSW	7	26,980,415 (GRCm39)	missense	probably damaging	1.00
R6134:Numbl	UTSW	7	26,980,739 (GRCm39)	missense	probably damaging	0.98
R6387:Numbl	UTSW	7	26,976,115 (GRCm39)	missense	probably damaging	0.99
R6989:Numbl	UTSW	7	26,980,265 (GRCm39)	missense	probably damaging	1.00
R7510:Numbl	UTSW	7	26,971,412 (GRCm39)	splice site	probably null
R8093:Numbl	UTSW	7	26,980,461 (GRCm39)	missense	possibly damaging	0.52
R8518:Numbl	UTSW	7	26,964,361 (GRCm39)	missense	probably benign	0.12
R9449:Numbl	UTSW	7	26,976,327 (GRCm39)	missense
V7580:Numbl	UTSW	7	26,979,027 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCATCGGTTATCAGATGCCACCTAC -3'
(R):5'- TGGTCCCACAGTCCTAAGGCAATAC -3'

Sequencing Primer
(F):5'- GTGACCTATGTACCTCTGGAAGAC -3'
(R):5'- GTCCTAAGGCAATACAGTGGTTC -3'

Posted On

2014-01-29