Mutagenetix > Incidental Mutation

Incidental Mutation 'R1980:Numb'

222188

Institutional Source

Beutler Lab

Gene Symbol

Numb

Ensembl Gene

ENSMUSG00000021224

Gene Name

NUMB endocytic adaptor protein

Synonyms

m-numb

MMRRC Submission

039992-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1980 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83840808-83968708 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

C to T at 83844118 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] [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 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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.1%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	C	11: 100,386,702 (GRCm39)	I620S	possibly damaging	Het
Acot8	A	G	2: 164,636,964 (GRCm39)	F262S	probably damaging	Het
Adgb	C	T	10: 10,309,242 (GRCm39)	V246I	probably benign	Het
Akap9	T	A	5: 4,022,771 (GRCm39)	M1200K	probably damaging	Het
Alg11	T	A	8: 22,551,903 (GRCm39)	F16I	possibly damaging	Het
Apol7c	A	G	15: 77,410,244 (GRCm39)	V234A	probably benign	Het
Arhgap19	T	G	19: 41,776,784 (GRCm39)	I122L	possibly damaging	Het
Arhgef37	A	G	18: 61,641,767 (GRCm39)	S201P	probably damaging	Het
Asgr1	A	T	11: 69,945,772 (GRCm39)	D16V	probably damaging	Het
Camta2	A	T	11: 70,573,308 (GRCm39)	C227S	probably benign	Het
Cd22	A	T	7: 30,572,658 (GRCm39)	L317Q	probably damaging	Het
Cenpf	A	T	1: 189,386,112 (GRCm39)	I2056K	probably benign	Het
Cenpi	T	A	X: 133,218,782 (GRCm39)	F161L	possibly damaging	Het
Ciapin1	C	T	8: 95,559,161 (GRCm39)	V43I	probably benign	Het
Cox5b-ps	T	G	13: 21,685,294 (GRCm39)	T99P	possibly damaging	Het
Dach1	A	G	14: 98,068,777 (GRCm39)	L601P	probably damaging	Het
Ddx11	T	A	17: 66,455,734 (GRCm39)	L711Q	probably damaging	Het
Dsg1a	A	T	18: 20,471,707 (GRCm39)	N653I	probably damaging	Het
Fezf2	G	T	14: 12,344,405 (GRCm38)	P261T	probably benign	Het
Galnt5	T	C	2: 57,914,735 (GRCm39)		probably null	Het
Gemin5	A	G	11: 58,027,743 (GRCm39)	L935P	probably damaging	Het
Gm9507	A	T	10: 77,647,519 (GRCm39)	C53*	probably null	Het
Irgm2	A	G	11: 58,110,902 (GRCm39)	I198V	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klf12	A	C	14: 100,387,162 (GRCm39)		probably null	Het
Lpp	C	T	16: 24,480,451 (GRCm39)	P73L	probably damaging	Het
Lrrc34	G	A	3: 30,696,890 (GRCm39)	H127Y	probably benign	Het
Lyar	T	C	5: 38,382,053 (GRCm39)	S12P	probably damaging	Het
Maml3	A	G	3: 52,011,473 (GRCm39)	I31T	unknown	Het
Mei1	A	G	15: 81,987,513 (GRCm39)	N859S	probably benign	Het
Minar2	T	A	18: 59,208,739 (GRCm39)	M129K	probably damaging	Het
Mysm1	A	T	4: 94,840,450 (GRCm39)	N655K	probably benign	Het
Npnt	T	C	3: 132,653,893 (GRCm39)	I29M	probably benign	Het
Nrxn1	A	G	17: 91,395,746 (GRCm39)	W137R	probably benign	Het
Obsl1	A	G	1: 75,482,480 (GRCm39)	F130S	probably damaging	Het
Or2h1	T	G	17: 37,404,295 (GRCm39)	Q157P	probably damaging	Het
Or4k47	T	A	2: 111,451,586 (GRCm39)	I278F	probably benign	Het
Pbx4	T	C	8: 70,322,776 (GRCm39)	V294A	probably benign	Het
Pde4dip	A	C	3: 97,664,312 (GRCm39)	L524R	possibly damaging	Het
Plppr1	G	A	4: 49,337,655 (GRCm39)	A319T	probably benign	Het
Ppid	A	T	3: 79,500,925 (GRCm39)	I32F	probably damaging	Het
Ppp4r3c1	A	T	X: 88,975,051 (GRCm39)	V382E	probably damaging	Het
Prkcsh	A	G	9: 21,924,164 (GRCm39)	D458G	probably damaging	Het
Prr27	A	G	5: 87,991,261 (GRCm39)	E291G	probably benign	Het
Psme4	A	T	11: 30,782,615 (GRCm39)	K923N	possibly damaging	Het
Rab25	T	C	3: 88,450,765 (GRCm39)	T45A	probably damaging	Het
Rapgef1	C	T	2: 29,612,239 (GRCm39)	P630S	probably benign	Het
Rasa2	T	C	9: 96,452,821 (GRCm39)	D355G	probably damaging	Het
Rel	C	T	11: 23,692,761 (GRCm39)	G424D	probably benign	Het
Rtn4	A	T	11: 29,658,634 (GRCm39)	E929D	probably benign	Het
Samt3	A	C	X: 85,090,740 (GRCm39)	M211L	probably benign	Het
Slk	T	G	19: 47,600,428 (GRCm39)	I151S	probably damaging	Het
Spin1	T	A	13: 51,298,506 (GRCm39)	V175D	probably damaging	Het
Ssxb10	A	G	X: 8,197,258 (GRCm39)	D77G	probably benign	Het
Ticam1	C	T	17: 56,578,555 (GRCm39)	R180H	probably damaging	Het
Tmem151b	G	C	17: 45,856,387 (GRCm39)	P351R	possibly damaging	Het
Tmod1	A	C	4: 46,061,043 (GRCm39)	Y10S	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpm1	T	C	7: 63,858,182 (GRCm39)	Y225H	possibly damaging	Het
Ttc17	T	C	2: 94,157,049 (GRCm39)	N411S	probably benign	Het
Tyro3	A	G	2: 119,639,298 (GRCm39)	D335G	probably benign	Het
Unc79	C	A	12: 102,977,538 (GRCm39)	Y180*	probably null	Het
Upp1	A	T	11: 9,084,872 (GRCm39)	D197V	possibly damaging	Het
Vmn1r226	T	A	17: 20,908,308 (GRCm39)	M180K	possibly damaging	Het
Vtn	T	A	11: 78,392,724 (GRCm39)	I434N	probably damaging	Het
Zfp329	T	A	7: 12,545,395 (GRCm39)	N43I	probably benign	Het
Zfp819	A	G	7: 43,265,885 (GRCm39)	T47A	probably benign	Het
Zyg11b	G	A	4: 108,123,127 (GRCm39)	T280I	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
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
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'- AGTCCTCATTCAGGTAGCTGG -3'
(R):5'- GTACAGTTATTTGATACGGTCTCTG -3'

Sequencing Primer
(F):5'- CCAAAATCTATTTCAACATCTCTGGC -3'
(R):5'- ATACGGTCTCTGTTTTTGTGAAAAG -3'

Posted On

2014-08-25