Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00976:Numbl'

27930

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Numbl

Ensembl Gene

ENSMUSG00000063160

Gene Name

numb-like

Synonyms

nbl

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00976

Quality Score

Status

Chromosome

Chromosomal Location

26957884-26981570 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26968235 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 144 (V144A)

Ref Sequence

ENSEMBL: ENSMUSP00000078245 (fasta)

Gene Model

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

AlphaFold

O08919

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079258
AA Change: V144A

PolyPhen 2 Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000078245
Gene: ENSMUSG00000063160
AA Change: V144A

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: ENSMUST00000122093

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132897

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144010

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149805

Coding Region Coverage

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519F16Rik	A	G	X: 102,226,868 (GRCm39)		probably benign	Het
Aldob	C	A	4: 49,541,220 (GRCm39)	V151L	probably damaging	Het
Cacna1i	G	A	15: 80,239,846 (GRCm39)	M298I	probably benign	Het
Capn3	A	G	2: 120,322,382 (GRCm39)	N414S	possibly damaging	Het
Ccdc186	G	A	19: 56,785,932 (GRCm39)	T701M	probably damaging	Het
Ccdc190	A	T	1: 169,761,309 (GRCm39)	H137L	probably benign	Het
Clhc1	G	A	11: 29,511,389 (GRCm39)	D278N	probably benign	Het
Cntnap3	T	C	13: 64,942,166 (GRCm39)	Y188C	probably damaging	Het
Dnah1	A	C	14: 31,000,095 (GRCm39)	V2466G	probably damaging	Het
Dnah8	A	G	17: 31,070,684 (GRCm39)	T4457A	probably damaging	Het
Hectd4	A	G	5: 121,487,169 (GRCm39)	Q3388R	probably benign	Het
Hecw1	T	A	13: 14,493,557 (GRCm39)	D316V	probably damaging	Het
Il1rap	T	C	16: 26,517,589 (GRCm39)	V263A	probably benign	Het
Il6	G	A	5: 30,219,839 (GRCm39)	G72S	probably benign	Het
Katnal2	T	C	18: 77,105,189 (GRCm39)	Y86C	probably damaging	Het
Kdm7a	G	T	6: 39,121,332 (GRCm39)	S874R	possibly damaging	Het
Mybpc2	T	C	7: 44,171,741 (GRCm39)		probably null	Het
Nphs1	T	G	7: 30,160,110 (GRCm39)	S130A	possibly damaging	Het
Ntrk3	C	T	7: 78,100,701 (GRCm39)	V444I	probably benign	Het
Or8g33	T	A	9: 39,337,953 (GRCm39)	Y138F	probably benign	Het
P2rx1	T	C	11: 72,903,826 (GRCm39)		probably null	Het
Pcdhb3	G	A	18: 37,436,001 (GRCm39)	V656I	probably benign	Het
Pole	A	G	5: 110,471,438 (GRCm39)	Y1394C	probably benign	Het
Pramel24	T	A	4: 143,453,585 (GRCm39)	M231K	probably damaging	Het
Rbm47	A	G	5: 66,184,081 (GRCm39)	V174A	possibly damaging	Het
Rhox4f	T	C	X: 36,786,048 (GRCm39)		probably benign	Het
Serpina12	T	C	12: 103,998,787 (GRCm39)	Y317C	probably damaging	Het
Slc12a5	T	A	2: 164,821,224 (GRCm39)	I236N	probably damaging	Het
Slc4a4	G	A	5: 89,102,657 (GRCm39)	G32R	probably damaging	Het
Slco1a4	T	C	6: 141,752,908 (GRCm39)		probably null	Het
Sorcs3	A	T	19: 48,755,542 (GRCm39)	N894I	probably damaging	Het
Stk38l	A	G	6: 146,676,900 (GRCm39)	E393G	probably benign	Het
Synpo	A	G	18: 60,736,491 (GRCm39)	I485T	possibly damaging	Het
Tenm3	T	A	8: 48,709,876 (GRCm39)	M1687L	probably benign	Het
Ttc39c	T	C	18: 12,817,952 (GRCm39)		probably benign	Het
Unc13d	T	C	11: 115,961,293 (GRCm39)	E378G	probably damaging	Het
Vmn2r118	T	A	17: 55,900,204 (GRCm39)	N567Y	probably damaging	Het

Other mutations in Numbl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
V7583:Numbl	UTSW	7	26,979,027 (GRCm39)	missense	probably benign

Posted On

2013-04-17