Mutagenetix > Incidental Mutation

Incidental Mutation 'R1295:Numb'

158084

Institutional Source

Beutler Lab

Gene Symbol

Numb

Ensembl Gene

ENSMUSG00000021224

Gene Name

NUMB endocytic adaptor protein

Synonyms

m-numb

MMRRC Submission

039361-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1295 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83840808-83968708 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 83842935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117899 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021646] [ENSMUST00000021647] [ENSMUST00000085215] [ENSMUST00000110298] [ENSMUST00000117217] [ENSMUST00000121733] [ENSMUST00000129335] [ENSMUST00000154043]

AlphaFold

Q9QZS3

Predicted Effect

probably benign
Transcript: ENSMUST00000021646

SMART Domains

Protein: ENSMUSP00000021646
Gene: ENSMUSG00000021223

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
TSP1	30	81	3.36e-11	SMART
low complexity region	147	161	N/A	INTRINSIC
Pfam:ADAM_spacer1	184	299	3.3e-39	PFAM
TSP1	309	362	1.2e-7	SMART
TSP1	366	426	2.76e-7	SMART
TSP1	427	482	1.42e-9	SMART
TSP1	488	540	2.47e-9	SMART
low complexity region	604	621	N/A	INTRINSIC
KU	748	801	1.83e-22	SMART
low complexity region	822	831	N/A	INTRINSIC
IGc2	917	980	2.88e-4	SMART
IGc2	1056	1119	2.66e-17	SMART
IGc2	1145	1209	2.13e-7	SMART
Pfam:PLAC	1234	1268	2.3e-14	PFAM

Predicted Effect

probably benign
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 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

probably benign
Transcript: ENSMUST00000121733

SMART Domains

Protein: ENSMUSP00000113806
Gene: ENSMUSG00000021223

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
TSP1	30	81	3.36e-11	SMART
low complexity region	147	161	N/A	INTRINSIC
Pfam:ADAM_spacer1	184	299	2.8e-38	PFAM
TSP1	309	362	1.2e-7	SMART
TSP1	388	448	1.82e-7	SMART
TSP1	449	504	1.42e-9	SMART
TSP1	510	562	2.47e-9	SMART
low complexity region	626	643	N/A	INTRINSIC
KU	770	823	1.83e-22	SMART
Pfam:Papilin_u7	831	922	1.9e-40	PFAM
IGc2	939	1002	2.88e-4	SMART
IGc2	1078	1141	2.66e-17	SMART
IGc2	1167	1231	2.13e-7	SMART
Pfam:PLAC	1257	1289	1.1e-13	PFAM

Predicted Effect

probably benign
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 benign
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

Coding Region Coverage

1x: 98.7%
3x: 97.4%
10x: 93.1%
20x: 82.0%

Validation Efficiency

98% (81/83)

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
Ackr2	A	G	9: 121,737,783 (GRCm39)	S53G	possibly damaging	Het
Adgrb1	T	A	15: 74,421,888 (GRCm39)	L886Q	probably damaging	Het
Adprhl1	G	A	8: 13,298,624 (GRCm39)	T102M	probably damaging	Het
Akap6	A	C	12: 52,933,812 (GRCm39)	K435Q	probably damaging	Het
Aldh7a1	T	C	18: 56,680,022 (GRCm39)		probably null	Het
Amfr	T	C	8: 94,701,432 (GRCm39)	R507G	probably benign	Het
Ap1m1	T	A	8: 73,005,719 (GRCm39)		probably null	Het
Arhgap29	A	G	3: 121,786,044 (GRCm39)	H275R	probably benign	Het
Arhgef17	C	A	7: 100,530,476 (GRCm39)	E428*	probably null	Het
Atm	A	T	9: 53,367,830 (GRCm39)	V2431E	probably damaging	Het
Atn1	G	T	6: 124,724,750 (GRCm39)	P161Q	unknown	Het
Atp13a2	T	C	4: 140,721,113 (GRCm39)	S99P	probably damaging	Het
Ccar1	C	A	10: 62,619,661 (GRCm39)		probably null	Het
Cdk18	T	C	1: 132,047,698 (GRCm39)		probably benign	Het
Cep85	A	G	4: 133,894,711 (GRCm39)	W32R	probably damaging	Het
Col5a3	A	G	9: 20,719,714 (GRCm39)	F215S	unknown	Het
Decr1	T	C	4: 15,919,207 (GRCm39)	N312S	possibly damaging	Het
Diaph3	A	T	14: 87,244,835 (GRCm39)	W178R	probably damaging	Het
Dync2h1	A	G	9: 7,075,752 (GRCm39)		probably benign	Het
Ehd3	C	A	17: 74,135,181 (GRCm39)	D352E	probably damaging	Het
Enpp6	T	G	8: 47,518,535 (GRCm39)	I221S	probably benign	Het
Fam186a	T	C	15: 99,837,670 (GRCm39)		probably benign	Het
Gm5435	G	T	12: 82,542,558 (GRCm39)		noncoding transcript	Het
Gpr22	A	C	12: 31,759,513 (GRCm39)	I203S	probably benign	Het
Gpr61	A	G	3: 108,057,797 (GRCm39)	V288A	possibly damaging	Het
Grik3	G	A	4: 125,598,357 (GRCm39)		probably benign	Het
Gstcd	T	C	3: 132,711,389 (GRCm39)	N431D	probably damaging	Het
H1f5	T	C	13: 21,964,169 (GRCm39)	S186G	probably benign	Het
Haao	T	A	17: 84,146,267 (GRCm39)	Q69L	probably benign	Het
Ift140	G	T	17: 25,307,907 (GRCm39)		probably null	Het
Ikbke	A	G	1: 131,197,963 (GRCm39)	V381A	probably benign	Het
Ing1	T	A	8: 11,611,502 (GRCm39)	I38N	probably damaging	Het
Ing1	A	C	8: 11,611,501 (GRCm39)	I38L	probably benign	Het
Itga4	A	G	2: 79,153,033 (GRCm39)	M907V	possibly damaging	Het
Kcnk12	C	T	17: 88,053,801 (GRCm39)	G287D	probably damaging	Het
Kmt2e	A	C	5: 23,707,402 (GRCm39)	H1655P	probably damaging	Het
Mbtd1	A	G	11: 93,801,185 (GRCm39)	Y122C	probably damaging	Het
Mif-ps9	T	A	19: 56,743,766 (GRCm39)		noncoding transcript	Het
Mslnl	T	C	17: 25,962,214 (GRCm39)	L204P	probably damaging	Het
Muc6	T	C	7: 141,238,144 (GRCm39)	E112G	probably benign	Het
Nav3	T	A	10: 109,527,963 (GRCm39)	D2240V	probably damaging	Het
Ndufaf3	T	C	9: 108,443,892 (GRCm39)	T9A	probably damaging	Het
Prodh2	T	C	7: 30,193,514 (GRCm39)	V79A	probably damaging	Het
Psmb2	A	G	4: 126,580,825 (GRCm39)	Y73C	probably damaging	Het
Rmnd5a	G	A	6: 71,375,439 (GRCm39)	L80F	probably benign	Het
Rnf19a	G	T	15: 36,244,247 (GRCm39)	Y604*	probably null	Het
Ros1	T	A	10: 51,964,028 (GRCm39)	E1744V	possibly damaging	Het
Rpusd2	T	C	2: 118,867,408 (GRCm39)	F219L	probably benign	Het
Sall2	T	C	14: 52,551,182 (GRCm39)	N671S	probably damaging	Het
Sele	T	A	1: 163,878,379 (GRCm39)	S239R	probably damaging	Het
Serpina3b	T	C	12: 104,097,138 (GRCm39)	F140L	probably damaging	Het
Stxbp1	A	T	2: 32,684,648 (GRCm39)	S594T	probably benign	Het
Sufu	G	A	19: 46,443,159 (GRCm39)		probably benign	Het
Tbx2	A	G	11: 85,725,592 (GRCm39)	E181G	probably damaging	Het
Thumpd2	A	G	17: 81,363,317 (GRCm39)	V50A	probably damaging	Het
Tlcd4	A	G	3: 121,000,940 (GRCm39)	V231A	probably benign	Het
Ttn	C	A	2: 76,573,589 (GRCm39)	R17441L	probably damaging	Het
Usp34	A	G	11: 23,334,477 (GRCm39)	Y1157C	probably damaging	Het
Vmn1r9	T	C	6: 57,048,522 (GRCm39)	V199A	probably damaging	Het
Vmn2r6	A	G	3: 64,445,694 (GRCm39)	F677S	probably damaging	Het
Vmn2r84	C	T	10: 130,225,008 (GRCm39)	A501T	probably benign	Het
Wapl	C	T	14: 34,446,726 (GRCm39)	P605S	probably damaging	Het
Zfp598	A	G	17: 24,898,623 (GRCm39)	N474S	probably benign	Het
Zfyve26	A	G	12: 79,321,694 (GRCm39)	L975P	probably damaging	Het
Zp3r	C	T	1: 130,519,181 (GRCm39)	G255D	probably 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
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
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'- GTGATGCCCACTACAGGCACATTAG -3'
(R):5'- AGCCTCCACATGCCTTCAGATGAC -3'

Sequencing Primer
(F):5'- CTACAGGCACATTAGAGGCTG -3'
(R):5'- TGACATCGTGCTCTAACAGG -3'

Posted On

2014-02-18