Mutagenetix > Incidental Mutation

Incidental Mutation 'R2181:Numbl'

237185

Institutional Source

Beutler Lab

Gene Symbol

Numbl

Ensembl Gene

ENSMUSG00000063160

Gene Name

numb-like

Synonyms

nbl

MMRRC Submission

040183-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2181 (G1)

Quality Score

184

Status

Not validated

Chromosome

Chromosomal Location

26957884-26981570 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 26968346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000078245 (fasta)

Gene Model

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

AlphaFold

O08919

Predicted Effect

probably null
Transcript: ENSMUST00000079258

SMART Domains

Protein: ENSMUSP00000078245
Gene: ENSMUSG00000063160

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

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.8%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	C	T	16: 3,724,950 (GRCm39)	S43N	possibly damaging	Het
Abcb5	T	G	12: 118,831,681 (GRCm39)	I1224L	possibly damaging	Het
Adgra2	G	A	8: 27,611,701 (GRCm39)	G1002S	probably damaging	Het
Arhgap28	T	C	17: 68,203,112 (GRCm39)	T114A	probably damaging	Het
Colec12	T	A	18: 9,846,828 (GRCm39)	S75T	probably damaging	Het
Cyp2c67	A	G	19: 39,597,541 (GRCm39)	C486R	possibly damaging	Het
Ecm2	T	A	13: 49,683,765 (GRCm39)	L581Q	probably damaging	Het
Faxc	T	A	4: 21,931,591 (GRCm39)	S10T	probably benign	Het
Frem2	A	G	3: 53,482,008 (GRCm39)	I1893T	possibly damaging	Het
Gabrr3	T	A	16: 59,268,372 (GRCm39)	D328E	probably damaging	Het
Gbp7	A	G	3: 142,249,791 (GRCm39)	I421V	possibly damaging	Het
Gorasp1	A	G	9: 119,757,422 (GRCm39)	S317P	probably damaging	Het
Htr6	A	G	4: 138,801,736 (GRCm39)	S113P	probably damaging	Het
Ift74	A	G	4: 94,520,951 (GRCm39)	E168G	probably damaging	Het
Kdm6b	A	T	11: 69,291,952 (GRCm39)	Y1443*	probably null	Het
Mmp28	A	C	11: 83,333,543 (GRCm39)	V466G	possibly damaging	Het
Nbea	A	T	3: 55,937,360 (GRCm39)	S750R	possibly damaging	Het
Nbeal1	T	C	1: 60,317,939 (GRCm39)	F1959L	probably damaging	Het
Nelfa	T	C	5: 34,057,853 (GRCm39)	N314D	probably benign	Het
Or13c25	T	A	4: 52,911,524 (GRCm39)	K90M	probably damaging	Het
Or1j17	G	A	2: 36,578,346 (GRCm39)	D111N	probably damaging	Het
Or2p2	G	T	13: 21,257,394 (GRCm39)	P26T	probably damaging	Het
Or52e5	T	C	7: 104,719,418 (GRCm39)	V248A	possibly damaging	Het
Or5b113	G	T	19: 13,342,438 (GRCm39)	V149F	probably benign	Het
Penk	T	C	4: 4,134,041 (GRCm39)		probably null	Het
Pglyrp2	A	G	17: 32,637,936 (GRCm39)	S31P	probably damaging	Het
Pigg	T	C	5: 108,484,366 (GRCm39)	S538P	probably damaging	Het
Pld2	A	G	11: 70,433,815 (GRCm39)	T252A	possibly damaging	Het
Ppp2r5e	T	C	12: 75,509,098 (GRCm39)	I394V	probably benign	Het
Sh3rf1	G	T	8: 61,816,272 (GRCm39)	V510F	probably damaging	Het
Slc4a2	A	G	5: 24,640,651 (GRCm39)	H677R	possibly damaging	Het
Stam2	A	T	2: 52,593,156 (GRCm39)	H345Q	probably benign	Het
Tmtc3	T	C	10: 100,284,835 (GRCm39)	N600S	probably benign	Het
Trappc8	A	G	18: 20,952,279 (GRCm39)		probably null	Het
Vmn1r72	A	T	7: 11,403,595 (GRCm39)	C284*	probably null	Het
Vmn2r76	T	C	7: 85,874,743 (GRCm39)	I745V	probably benign	Het
Zfhx4	A	C	3: 5,468,392 (GRCm39)	D2850A	probably damaging	Het
Zfp764	A	G	7: 127,005,671 (GRCm39)	W36R	probably damaging	Het
Zfp804b	G	A	5: 6,821,674 (GRCm39)	T463I	probably damaging	Het
Zfp811	T	G	17: 33,016,695 (GRCm39)	K448N	probably damaging	Het

Other mutations in Numbl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00976:Numbl	APN	7	26,968,235 (GRCm39)	missense	possibly damaging	0.50
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
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

Predicted Primers

PCR Primer
(F):5'- TGTCTTGACTGCAGGCAAGAG -3'
(R):5'- ACAGACACTCCCTTCTTGAGATG -3'

Sequencing Primer
(F):5'- CAAGAGAGATGGTTTTTCACTGCC -3'
(R):5'- CTGGCTGCCTTCAGATCAAGATG -3'

Posted On

2014-10-02