Mutagenetix > Incidental Mutation

Incidental Mutation 'R1606:Numb'

176505

Institutional Source

Beutler Lab

Gene Symbol

Numb

Ensembl Gene

ENSMUSG00000021224

Gene Name

NUMB endocytic adaptor protein

Synonyms

m-numb

MMRRC Submission

039643-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1606 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83840808-83968708 bp(-) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to C at 83847784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117899 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021647] [ENSMUST00000021647] [ENSMUST00000085215] [ENSMUST00000110298] [ENSMUST00000117217] [ENSMUST00000129335] [ENSMUST00000154043] [ENSMUST00000154043] [ENSMUST00000155112]

AlphaFold

Q9QZS3

Predicted Effect

probably null
Transcript: ENSMUST00000021647

SMART Domains

Protein: ENSMUSP00000021647
Gene: ENSMUSG00000021224

Domain	Start	End	E-Value	Type
PTB	34	175	2.19e-37	SMART
low complexity region	231	253	N/A	INTRINSIC
Pfam:NumbF	257	339	4.7e-42	PFAM
low complexity region	413	434	N/A	INTRINSIC
low complexity region	445	453	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000021647

SMART Domains

Protein: ENSMUSP00000021647
Gene: ENSMUSG00000021224

Domain	Start	End	E-Value	Type
PTB	34	175	2.19e-37	SMART
low complexity region	231	253	N/A	INTRINSIC
Pfam:NumbF	257	339	4.7e-42	PFAM
low complexity region	413	434	N/A	INTRINSIC
low complexity region	445	453	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000085215

SMART Domains

Protein: ENSMUSP00000082311
Gene: ENSMUSG00000021224

Domain	Start	End	E-Value	Type
PTB	34	175	2.19e-37	SMART
low complexity region	231	253	N/A	INTRINSIC
Pfam:NumbF	257	322	5.6e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110298

SMART Domains

Protein: ENSMUSP00000105927
Gene: ENSMUSG00000021224

Domain	Start	End	E-Value	Type
Pfam:PID	39	76	2.3e-7	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000117217

SMART Domains

Protein: ENSMUSP00000113591
Gene: ENSMUSG00000021224

Domain	Start	End	E-Value	Type
PTB	34	164	3.62e-38	SMART
low complexity region	220	242	N/A	INTRINSIC
Pfam:NumbF	246	328	4.5e-42	PFAM
low complexity region	402	423	N/A	INTRINSIC
low complexity region	434	442	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000129335

SMART Domains

Protein: ENSMUSP00000119303
Gene: ENSMUSG00000021224

Domain	Start	End	E-Value	Type
PTB	34	175	2.19e-37	SMART
low complexity region	231	253	N/A	INTRINSIC
Pfam:NumbF	258	338	9.9e-32	PFAM
low complexity region	462	483	N/A	INTRINSIC
low complexity region	494	502	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000154043

SMART Domains

Protein: ENSMUSP00000117899
Gene: ENSMUSG00000021224

Domain	Start	End	E-Value	Type
PTB	34	164	3.62e-38	SMART
low complexity region	220	242	N/A	INTRINSIC
Pfam:NumbF	246	328	5.1e-42	PFAM
low complexity region	451	472	N/A	INTRINSIC
low complexity region	483	491	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000154043

SMART Domains

Protein: ENSMUSP00000117899
Gene: ENSMUSG00000021224

Domain	Start	End	E-Value	Type
PTB	34	164	3.62e-38	SMART
low complexity region	220	242	N/A	INTRINSIC
Pfam:NumbF	246	328	5.1e-42	PFAM
low complexity region	451	472	N/A	INTRINSIC
low complexity region	483	491	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155112

SMART Domains

Protein: ENSMUSP00000116863
Gene: ENSMUSG00000021224

Domain	Start	End	E-Value	Type
PTB	34	163	5.63e-26	SMART

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 91.1%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a conserved protein that is distributed asymmetrically during cell division in the developing embryo. The encoded protein participates in cell fate decisions by interacting with the Notch receptor. Loss of function of this gene results in severe defects in neural development and loss of viability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a null allele die at ~E11.5 with neural tube closure defects and precocious cortical neurogenesis. Mice homozygous for another null allele show impaired axial rotation, neural tube closure, angiogenic remodeling, placenta formation, and motor and sensory neuron differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	G	19: 43,825,091 (GRCm39)	D1459G	probably damaging	Het
Adhfe1	G	A	1: 9,623,698 (GRCm39)		probably null	Het
Adsl	C	T	15: 80,836,425 (GRCm39)	Q61*	probably null	Het
Arhgap26	T	A	18: 39,429,925 (GRCm39)	C214S	probably damaging	Het
Armc8	A	T	9: 99,419,782 (GRCm39)	N9K	probably damaging	Het
Asxl1	A	G	2: 153,242,375 (GRCm39)	D975G	probably damaging	Het
Atp8b3	T	C	10: 80,368,412 (GRCm39)	E187G	probably damaging	Het
Bltp1	G	A	3: 36,996,548 (GRCm39)	D1087N	probably damaging	Het
Cdcp2	T	C	4: 106,959,710 (GRCm39)	S42P	probably damaging	Het
Chek1	A	G	9: 36,630,820 (GRCm39)	L198P	probably damaging	Het
Dlc1	A	G	8: 37,317,406 (GRCm39)	V423A	probably benign	Het
Dpy19l2	A	G	9: 24,492,511 (GRCm39)	S696P	probably benign	Het
Echdc3	A	T	2: 6,200,438 (GRCm39)	C183S	possibly damaging	Het
Exph5	A	C	9: 53,285,595 (GRCm39)	D892A	probably benign	Het
Fam120b	T	A	17: 15,622,073 (GRCm39)	I17K	possibly damaging	Het
Fbln5	C	T	12: 101,731,457 (GRCm39)	D246N	probably benign	Het
Fbxo15	A	C	18: 84,980,745 (GRCm39)	K195T	possibly damaging	Het
Fzd1	C	A	5: 4,807,514 (GRCm39)	E23*	probably null	Het
Gas2l1	C	A	11: 5,014,434 (GRCm39)	A9S	probably damaging	Het
Gcc2	C	T	10: 58,105,270 (GRCm39)	L69F	probably damaging	Het
Ggt6	C	T	11: 72,328,559 (GRCm39)	A353V	possibly damaging	Het
Gphn	T	A	12: 78,730,657 (GRCm39)	V764E	probably damaging	Het
Grid1	A	T	14: 35,167,922 (GRCm39)	Y482F	probably damaging	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Ifit1bl1	C	T	19: 34,571,444 (GRCm39)	V338M	probably benign	Het
Klhl14	T	A	18: 21,698,589 (GRCm39)	Q408L	possibly damaging	Het
Lacc1	T	A	14: 77,267,081 (GRCm39)	Q394L	probably benign	Het
Lcor	T	G	19: 41,573,513 (GRCm39)	M756R	probably benign	Het
Lipe	A	G	7: 25,087,569 (GRCm39)	F477L	probably damaging	Het
Lrig2	A	G	3: 104,387,423 (GRCm39)		probably null	Het
Megf8	T	A	7: 25,058,120 (GRCm39)	H2131Q	probably damaging	Het
Nek1	A	G	8: 61,577,310 (GRCm39)	D1097G	possibly damaging	Het
Nhlrc3	A	T	3: 53,366,078 (GRCm39)	Y138*	probably null	Het
Nudcd2	T	A	11: 40,626,834 (GRCm39)		probably null	Het
Or7h8	T	G	9: 20,124,242 (GRCm39)	L199R	probably benign	Het
Pacrg	G	A	17: 11,058,725 (GRCm39)	Q11*	probably null	Het
Ppp1r37	A	T	7: 19,268,924 (GRCm39)	M192K	probably damaging	Het
Prmt8	T	A	6: 127,666,799 (GRCm39)	K392*	probably null	Het
Rab28	A	T	5: 41,855,795 (GRCm39)	W67R	probably damaging	Het
Rad21l	C	T	2: 151,496,606 (GRCm39)	C365Y	probably damaging	Het
Rbm17	A	T	2: 11,600,208 (GRCm39)	F147I	probably benign	Het
Rbm46	A	C	3: 82,771,848 (GRCm39)	F256V	probably damaging	Het
Rcc1	A	T	4: 132,062,087 (GRCm39)		probably null	Het
Rnf217	G	T	10: 31,410,807 (GRCm39)	T296N	possibly damaging	Het
Rnmt	A	G	18: 68,444,724 (GRCm39)	D231G	possibly damaging	Het
Rph3al	C	T	11: 75,797,367 (GRCm39)	V110I	probably damaging	Het
Rxfp2	T	C	5: 149,983,362 (GRCm39)	M289T	probably benign	Het
Sash1	T	C	10: 8,605,721 (GRCm39)	R890G	probably benign	Het
Sf3b2	A	T	19: 5,338,026 (GRCm39)	D245E	probably benign	Het
Skint9	A	T	4: 112,246,398 (GRCm39)	V238E	probably benign	Het
Slc26a8	T	A	17: 28,857,455 (GRCm39)	D896V	possibly damaging	Het
Slc35b4	T	A	6: 34,135,323 (GRCm39)	K330*	probably null	Het
Slco1a4	G	T	6: 141,785,337 (GRCm39)	H84Q	probably damaging	Het
Sptbn2	G	T	19: 4,800,270 (GRCm39)		probably null	Het
St6galnac3	A	T	3: 152,912,305 (GRCm39)	D227E	probably benign	Het
Tek	G	A	4: 94,738,004 (GRCm39)	D685N	probably damaging	Het
Trf	G	T	9: 103,102,335 (GRCm39)		probably null	Het
Trpm5	T	A	7: 142,638,908 (GRCm39)	K288*	probably null	Het
Ttn	C	T	2: 76,567,356 (GRCm39)	V27846I	probably damaging	Het
Tyr	A	T	7: 87,087,179 (GRCm39)	D444E	probably benign	Het
Ucp1	C	A	8: 84,021,933 (GRCm39)	A255E	probably damaging	Het
Ush2a	A	G	1: 188,491,963 (GRCm39)	D3084G	probably benign	Het
Yeats4	T	C	10: 117,053,344 (GRCm39)	Y139C	probably damaging	Het
Zbtb6	A	G	2: 37,319,130 (GRCm39)	V266A	probably benign	Het
Zfp784	A	T	7: 5,038,774 (GRCm39)	N261K	possibly damaging	Het

Other mutations in Numb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Numb	APN	12	83,854,906 (GRCm39)	missense	probably damaging	1.00
IGL01979:Numb	APN	12	83,889,051 (GRCm39)	missense	probably damaging	1.00
IGL02318:Numb	APN	12	83,878,692 (GRCm39)	splice site	probably null
IGL02716:Numb	APN	12	83,847,982 (GRCm39)	missense	possibly damaging	0.79
IGL03206:Numb	APN	12	83,872,070 (GRCm39)	splice site	probably benign
PIT4468001:Numb	UTSW	12	83,854,921 (GRCm39)	missense	probably damaging	0.99
R0086:Numb	UTSW	12	83,842,704 (GRCm39)	missense	probably damaging	1.00
R0626:Numb	UTSW	12	83,842,614 (GRCm39)	missense	probably damaging	0.97
R0652:Numb	UTSW	12	83,842,566 (GRCm39)	missense	probably damaging	1.00
R1201:Numb	UTSW	12	83,848,059 (GRCm39)	missense	probably damaging	0.99
R1295:Numb	UTSW	12	83,842,935 (GRCm39)	splice site	probably benign
R1433:Numb	UTSW	12	83,844,033 (GRCm39)	missense	probably damaging	0.98
R1489:Numb	UTSW	12	83,842,217 (GRCm39)	missense	probably damaging	1.00
R1980:Numb	UTSW	12	83,844,118 (GRCm39)	critical splice acceptor site	probably null
R3771:Numb	UTSW	12	83,846,350 (GRCm39)	missense	probably damaging	0.99
R5382:Numb	UTSW	12	83,854,979 (GRCm39)	missense	probably damaging	1.00
R5818:Numb	UTSW	12	83,872,028 (GRCm39)	splice site	probably null
R5846:Numb	UTSW	12	83,923,521 (GRCm39)	utr 5 prime	probably benign
R6360:Numb	UTSW	12	83,844,036 (GRCm39)	missense	probably damaging	0.99
R6384:Numb	UTSW	12	83,850,748 (GRCm39)	missense	probably damaging	1.00
R7186:Numb	UTSW	12	83,842,920 (GRCm39)	missense	probably damaging	1.00
R7469:Numb	UTSW	12	83,850,578 (GRCm39)	missense	probably benign	0.37
R7749:Numb	UTSW	12	83,848,051 (GRCm39)	missense	not run
R8342:Numb	UTSW	12	83,854,990 (GRCm39)	missense	probably benign	0.02
R8370:Numb	UTSW	12	83,854,974 (GRCm39)	nonsense	probably null
R9448:Numb	UTSW	12	83,888,990 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GAGTACACCCGTGTCAGGACAAAC -3'
(R):5'- TGGCACTGCATCTTCAGAGATGAAC -3'

Sequencing Primer
(F):5'- ACCACGGACCTTGTAGTTCAG -3'
(R):5'- TGCATCTTCAGAGATGAACAATCC -3'

Posted On

2014-04-24