Mutagenetix > Incidental Mutation

Incidental Mutation 'R5846:Numb'

453643

Institutional Source

Beutler Lab

Gene Symbol

Numb

Ensembl Gene

ENSMUSG00000021224

Gene Name

NUMB endocytic adaptor protein

Synonyms

m-numb

MMRRC Submission

044064-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5846 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83840808-83968708 bp(-) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

G to T at 83923521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152499 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085215] [ENSMUST00000110298] [ENSMUST00000117217] [ENSMUST00000126943] [ENSMUST00000135962] [ENSMUST00000136848] [ENSMUST00000222439] [ENSMUST00000155112]

AlphaFold

Q9QZS3

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 benign
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

noncoding transcript
Transcript: ENSMUST00000125089

Predicted Effect

probably benign
Transcript: ENSMUST00000126943

SMART Domains

Protein: ENSMUSP00000122960
Gene: ENSMUSG00000021224

Domain	Start	End	E-Value	Type
PDB:1WJ1\|A	21	65	3e-21	PDB
SCOP:d1ddma_	23	65	6e-6	SMART
Blast:PTB	34	65	1e-8	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000135962

SMART Domains

Protein: ENSMUSP00000122977
Gene: ENSMUSG00000021224

Domain	Start	End	E-Value	Type
Pfam:PTB	38	147	9.3e-8	PFAM
Pfam:PID	39	148	4.7e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136848

SMART Domains

Protein: ENSMUSP00000122597
Gene: ENSMUSG00000021224

Domain	Start	End	E-Value	Type
Pfam:PTB	38	112	2.4e-8	PFAM
Pfam:PID	39	113	2.5e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220790

Predicted Effect

probably benign
Transcript: ENSMUST00000222439

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

Validation Efficiency

97% (67/69)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,562,377 (GRCm39)	S335P	unknown	Het
Ace3	A	T	11: 105,889,188 (GRCm39)	I473F	probably benign	Het
Adcy2	T	A	13: 68,886,707 (GRCm39)	N281Y	probably damaging	Het
Adgra1	T	A	7: 139,455,196 (GRCm39)	W275R	probably damaging	Het
Apmap	T	C	2: 150,450,341 (GRCm39)	D20G	probably damaging	Het
Arap2	T	C	5: 62,807,116 (GRCm39)	T1184A	probably damaging	Het
Atp13a2	T	C	4: 140,722,907 (GRCm39)	V303A	possibly damaging	Het
BC004004	A	T	17: 29,501,282 (GRCm39)		probably benign	Het
C1s1	G	A	6: 124,517,912 (GRCm39)	P23S	possibly damaging	Het
C1s2	T	A	6: 124,608,123 (GRCm39)	N197Y	probably damaging	Het
Camsap3	A	G	8: 3,653,980 (GRCm39)	H539R	probably damaging	Het
Catsperb	A	T	12: 101,569,025 (GRCm39)	N899I	probably damaging	Het
Cct4	T	C	11: 22,951,354 (GRCm39)		probably benign	Het
Chrm2	A	T	6: 36,500,385 (GRCm39)	T81S	probably damaging	Het
Dnaaf3	A	T	7: 4,526,686 (GRCm39)	S464T	possibly damaging	Het
Dnah10	T	A	5: 124,900,437 (GRCm39)	I3898N	possibly damaging	Het
Dnah3	TTCCTC	TTC	7: 119,550,244 (GRCm39)		probably benign	Het
Dnajc13	T	C	9: 104,067,584 (GRCm39)	K1187E	probably damaging	Het
Dock4	A	T	12: 40,867,735 (GRCm39)	D1437V	probably damaging	Het
Dst	C	T	1: 34,234,942 (GRCm39)	Q3674*	probably null	Het
Eef1a2	T	C	2: 180,794,776 (GRCm39)	Y141C	probably damaging	Het
Fads3	G	T	19: 10,030,397 (GRCm39)	Q178H	probably null	Het
Fbxw22	T	A	9: 109,215,829 (GRCm39)	M140L	probably benign	Het
Fndc7	A	G	3: 108,788,707 (GRCm39)	I178T	probably damaging	Het
Foxd1	T	C	13: 98,491,549 (GRCm39)	M141T	probably damaging	Het
H4c2	T	C	13: 23,941,215 (GRCm39)	V71A	possibly damaging	Het
Havcr2	T	C	11: 46,360,343 (GRCm39)	I141T	probably benign	Het
Hectd1	A	C	12: 51,820,618 (GRCm39)	N1190K	probably damaging	Het
Hook3	T	A	8: 26,534,355 (GRCm39)		probably benign	Het
Hpgd	T	A	8: 56,760,702 (GRCm39)	I133N	possibly damaging	Het
Itih2	T	C	2: 10,102,714 (GRCm39)	R807G	probably benign	Het
Klhl35	G	A	7: 99,122,094 (GRCm39)	G65D	probably damaging	Het
Lrch4	C	G	5: 137,631,919 (GRCm39)	C48W	probably damaging	Het
Mafa	A	G	15: 75,619,627 (GRCm39)	S49P	probably benign	Het
Magi1	A	G	6: 93,662,584 (GRCm39)	V1170A	probably damaging	Het
Mprip	A	T	11: 59,649,380 (GRCm39)	K1028M	probably damaging	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Obscn	A	G	11: 58,929,435 (GRCm39)	L6063P	probably damaging	Het
Or2y6	A	G	11: 52,103,881 (GRCm39)	*312Q	probably null	Het
Or6c6c	A	T	10: 129,540,756 (GRCm39)	N3I	probably damaging	Het
P3h3	A	T	6: 124,834,157 (GRCm39)		probably null	Het
Pi4k2a	A	G	19: 42,103,477 (GRCm39)	D329G	probably benign	Het
Ptch1	T	C	13: 63,713,268 (GRCm39)		probably benign	Het
Samd9l	A	G	6: 3,376,754 (GRCm39)	V169A	probably benign	Het
Sdk1	T	C	5: 142,100,148 (GRCm39)	Y1393H	probably damaging	Het
Slc18a3	T	A	14: 32,185,880 (GRCm39)	M168L	probably benign	Het
Smurf1	T	C	5: 144,816,190 (GRCm39)	T722A	probably damaging	Het
Ssr2	C	T	3: 88,488,379 (GRCm39)	P85L	probably damaging	Het
Syne2	G	T	12: 76,074,898 (GRCm39)	A4614S	probably benign	Het
Tgfbr3	C	A	5: 107,288,521 (GRCm39)	G380V	possibly damaging	Het
Tk1	G	T	11: 117,706,748 (GRCm39)		probably benign	Het
Tmem245	A	T	4: 56,903,241 (GRCm39)	S610T	probably benign	Het
Tmtc2	A	G	10: 105,107,302 (GRCm39)		probably benign	Het
Trim30b	A	G	7: 104,006,578 (GRCm39)	Y93H	possibly damaging	Het
Tsks	A	G	7: 44,593,412 (GRCm39)	D126G	probably damaging	Het
Ttn	T	A	2: 76,733,812 (GRCm39)		probably benign	Het
Usp15	A	G	10: 123,017,647 (GRCm39)	W50R	probably damaging	Het
Vmn2r55	A	T	7: 12,404,492 (GRCm39)	F304I	probably benign	Het
Xirp2	T	A	2: 67,339,587 (GRCm39)	D609E	probably damaging	Het
Zan	C	T	5: 137,392,638 (GRCm39)		probably null	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
R1606:Numb	UTSW	12	83,847,784 (GRCm39)	splice site	probably null
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
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'- CACTGCCTAAAATTTGGAGTGC -3'
(R):5'- TTAGTTACCGGGCATGCACG -3'

Sequencing Primer
(F):5'- ACTGAGAGCACTGACTGTTC -3'
(R):5'- ATGCACGTCTCCCACTGTG -3'

Posted On

2017-02-10