Mutagenetix > Incidental Mutation

Incidental Mutation 'R6134:Numbl'

487277

Institutional Source

Beutler Lab

Gene Symbol

Numbl

Ensembl Gene

ENSMUSG00000063160

Gene Name

numb-like

Synonyms

nbl

MMRRC Submission

044281-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26957884-26981570 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 26980739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Proline at position 574 (A574P)

Ref Sequence

ENSEMBL: ENSMUSP00000078245 (fasta)

Gene Model

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

AlphaFold

O08919

Predicted Effect

probably damaging
Transcript: ENSMUST00000079258
AA Change: A574P

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078245
Gene: ENSMUSG00000063160
AA Change: A574P

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: ENSMUST00000134215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149805

Meta Mutation Damage Score

0.1008

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

94% (51/54)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	G	A	11: 58,767,619 (GRCm39)	E39K	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Aktip	T	A	8: 91,856,388 (GRCm39)	S30C	probably damaging	Het
Anxa10	G	T	8: 62,530,977 (GRCm39)	H78N	probably damaging	Het
Aoah	C	T	13: 21,095,293 (GRCm39)	R196W	probably damaging	Het
Arl4c	A	T	1: 88,629,152 (GRCm39)	W79R	probably damaging	Het
Brd2	A	T	17: 34,332,669 (GRCm39)	D178E	probably benign	Het
Cacna1e	G	A	1: 154,577,037 (GRCm39)	P120L	probably damaging	Het
Cdh16	A	T	8: 105,342,697 (GRCm39)	M17K	probably benign	Het
Cdhr17	A	T	5: 17,029,683 (GRCm39)	D473V	probably damaging	Het
Chit1	A	G	1: 134,071,798 (GRCm39)	T103A	possibly damaging	Het
Clcn3	T	C	8: 61,387,607 (GRCm39)	Y214C	probably damaging	Het
Coch	T	A	12: 51,649,536 (GRCm39)	D282E	probably damaging	Het
Col1a2	C	A	6: 4,538,035 (GRCm39)	S1181R	unknown	Het
Col6a2	T	C	10: 76,442,978 (GRCm39)	D506G	probably damaging	Het
Crx	A	T	7: 15,602,032 (GRCm39)	Y215*	probably null	Het
Fasn	A	T	11: 120,713,012 (GRCm39)	S58T	probably benign	Het
Fhip1a	T	C	3: 85,580,651 (GRCm39)	E518G	possibly damaging	Het
Garem1	A	T	18: 21,262,881 (GRCm39)	D644E	probably benign	Het
H2-Q2	A	C	17: 35,562,217 (GRCm39)	T155P	probably damaging	Het
Insr	A	T	8: 3,242,572 (GRCm39)	I49N	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Lnpep	A	G	17: 17,773,454 (GRCm39)	M639T	probably benign	Het
Lypd11	G	A	7: 24,425,481 (GRCm39)	A3V	probably damaging	Het
Map3k20	C	T	2: 72,240,503 (GRCm39)	S333F	probably damaging	Het
Miga2	A	G	2: 30,261,229 (GRCm39)	S175G	probably benign	Het
Muc3a	A	T	5: 137,244,579 (GRCm39)	I191N	probably damaging	Het
Ncoa2	A	G	1: 13,244,595 (GRCm39)	V701A	probably damaging	Het
Nid2	T	C	14: 19,828,851 (GRCm39)	V565A	probably damaging	Het
Nova2	G	A	7: 18,691,794 (GRCm39)	A244T	unknown	Het
Oas3	A	G	5: 120,907,113 (GRCm39)	V508A	unknown	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Otx1	A	T	11: 21,949,406 (GRCm39)	L24H	probably damaging	Het
Pcdhb21	T	A	18: 37,647,461 (GRCm39)	S197T	probably benign	Het
Pck2	T	A	14: 55,781,419 (GRCm39)	M180K	probably damaging	Het
Pgr	T	C	9: 8,900,740 (GRCm39)	V91A	possibly damaging	Het
Phtf1	A	T	3: 103,911,721 (GRCm39)	M643L	probably damaging	Het
Prokr1	T	C	6: 87,565,837 (GRCm39)	T3A	possibly damaging	Het
Ptgs1	T	C	2: 36,141,190 (GRCm39)	Y546H	probably damaging	Het
Rasa1	A	G	13: 85,374,745 (GRCm39)	L742P	probably benign	Het
Rbbp6	T	C	7: 122,596,534 (GRCm39)		probably null	Het
Rgs22	A	G	15: 36,107,194 (GRCm39)	L64P	probably damaging	Het
Rnf213	A	T	11: 119,302,296 (GRCm39)	I407F	probably damaging	Het
Rp1l1	C	T	14: 64,267,545 (GRCm39)	P1044S	probably damaging	Het
Scin	G	A	12: 40,110,578 (GRCm39)	P690L	probably damaging	Het
Septin9	T	C	11: 117,242,987 (GRCm39)	L58P	probably damaging	Het
Slc1a7	A	G	4: 107,869,633 (GRCm39)	E566G	probably damaging	Het
Speer4f1	G	A	5: 17,681,140 (GRCm39)	R6Q	probably benign	Het
Tnxb	A	T	17: 34,890,986 (GRCm39)	Y443F	probably damaging	Het
Trpv1	A	G	11: 73,135,143 (GRCm39)	I79V	probably benign	Het
Ttll6	C	T	11: 96,030,568 (GRCm39)	T245I	possibly damaging	Het
Vmn2r26	T	C	6: 124,038,444 (GRCm39)	I673T	probably damaging	Het
Zfp60	T	C	7: 27,449,323 (GRCm39)	F664L	probably benign	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
R2181:Numbl	UTSW	7	26,968,346 (GRCm39)	critical splice donor site	probably null
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
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'- AGATGGTAGCCAACGCCTTC -3'
(R):5'- TGGCAAAACCTAGGCATCAC -3'

Sequencing Primer
(F):5'- TAGCCAACGCCTTCTGCTCAG -3'
(R):5'- CCTAGGCATCACAATATTGGTTCTG -3'

Posted On

2017-10-10