Mutagenetix > Incidental Mutation

Incidental Mutation 'R0709:Numbl'

62654

Institutional Source

Beutler Lab

Gene Symbol

Numbl

Ensembl Gene

ENSMUSG00000063160

Gene Name

numb-like

Synonyms

nbl

MMRRC Submission

038892-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0709 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

27258433-27282144 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 27273990 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 192 (F192L)

Ref Sequence

ENSEMBL: ENSMUSP00000078245 (fasta)

Gene Model

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

AlphaFold

O08919

Predicted Effect

probably damaging
Transcript: ENSMUST00000079258
AA Change: F192L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000078245
Gene: ENSMUSG00000063160
AA Change: F192L

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: ENSMUST00000134215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149805

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (83/85)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	T	16: 14,618,494	D137V	probably damaging	Het
Aar2	C	T	2: 156,567,010	P378L	probably damaging	Het
Abcc5	A	T	16: 20,376,592	H718Q	possibly damaging	Het
Ace	G	T	11: 105,981,538	L319F	probably damaging	Het
Angpt4	C	A	2: 151,934,514	P321T	possibly damaging	Het
Atrip	T	C	9: 109,067,103	N282S	probably benign	Het
AW554918	A	C	18: 25,463,654	S525R	probably damaging	Het
Casc4	T	A	2: 121,867,425	V74E	probably damaging	Het
Ccdc136	T	A	6: 29,414,970	I644N	possibly damaging	Het
Ccdc178	A	G	18: 22,067,662	Y413H	probably damaging	Het
Ccdc7b	A	G	8: 129,136,646	H223R	probably benign	Het
Cd109	T	C	9: 78,671,978	V634A	possibly damaging	Het
Col7a1	T	A	9: 108,961,548		probably benign	Het
Copb2	A	T	9: 98,563,167		probably benign	Het
Csrnp3	C	T	2: 66,022,563	S445L	probably damaging	Het
Cxcl13	G	T	5: 95,958,671	C34F	probably damaging	Het
Dars2	T	C	1: 161,046,928	E397G	probably benign	Het
Dlg5	C	T	14: 24,146,255	V1625M	probably damaging	Het
Dnah12	T	G	14: 26,884,265		probably benign	Het
Eif4a1	C	A	11: 69,670,252	A76S	probably damaging	Het
Fam162b	T	A	10: 51,587,251	I107L	probably damaging	Het
Fbxo30	G	T	10: 11,291,313	C593F	possibly damaging	Het
Fut9	A	G	4: 25,620,359	F152L	probably damaging	Het
Galnt2	G	A	8: 124,343,346	G534D	probably benign	Het
Gm973	C	T	1: 59,558,234		probably benign	Het
Gprc5a	T	A	6: 135,078,950	S132T	probably damaging	Het
Hk3	G	A	13: 55,014,730	R47C	probably damaging	Het
Hrnr	A	T	3: 93,332,508	Q3351L	unknown	Het
Icam1	T	A	9: 21,019,127	F92L	probably damaging	Het
Ifi213	C	T	1: 173,589,800	V349I	possibly damaging	Het
Il12rb2	T	C	6: 67,298,904		probably benign	Het
Irx3	A	G	8: 91,799,420	V487A	possibly damaging	Het
Kalrn	A	G	16: 34,035,554	V204A	probably damaging	Het
Krt16	T	C	11: 100,246,454		probably benign	Het
Loxhd1	G	A	18: 77,404,969	V1369I	probably benign	Het
Med13	T	A	11: 86,319,596	K573N	possibly damaging	Het
Mnat1	A	G	12: 73,188,188	R204G	possibly damaging	Het
Myt1l	A	T	12: 29,827,733	D461V	unknown	Het
Nek6	T	A	2: 38,557,846	S41T	probably damaging	Het
Nudt22	T	C	19: 6,993,506	E232G	probably damaging	Het
Olfr1202	C	T	2: 88,817,882	T237I	probably benign	Het
Olfr834	T	A	9: 18,988,126	I46K	probably damaging	Het
P2rx4	T	C	5: 122,714,404	V47A	probably damaging	Het
Phka1	T	A	X: 102,586,104	I478F	probably damaging	Het
Pkn2	G	A	3: 142,830,520	T200I	probably damaging	Het
Plcg1	T	A	2: 160,751,778		probably null	Het
Polg2	C	T	11: 106,768,413	G425R	probably damaging	Het
Ptprm	G	T	17: 66,944,332		probably null	Het
Reg1	G	A	6: 78,428,118	R108H	possibly damaging	Het
Slc19a2	T	A	1: 164,256,798	F86I	probably damaging	Het
Slc26a11	T	C	11: 119,374,777	L372P	probably damaging	Het
Slc2a4	C	T	11: 69,946,159	V28M	possibly damaging	Het
Snap29	A	G	16: 17,406,148	N9S	probably damaging	Het
Snd1	C	G	6: 28,545,470		probably benign	Het
Sorcs3	G	A	19: 48,487,406	A235T	probably benign	Het
Sp100	T	A	1: 85,694,281	N362K	probably damaging	Het
Sqor	A	T	2: 122,799,855	I32F	probably benign	Het
Stx6	C	T	1: 155,193,294	R189C	probably damaging	Het
Tchp	T	C	5: 114,717,453	I298T	probably damaging	Het
Themis	A	G	10: 28,761,574	I225V	probably benign	Het
Timm50	A	T	7: 28,306,941	V245E	probably damaging	Het
Tnxb	A	G	17: 34,689,354	E1327G	probably damaging	Het
Tpp1	C	T	7: 105,749,607	R205H	probably benign	Het
Tradd	T	C	8: 105,260,644	E10G	possibly damaging	Het
Trim43a	G	A	9: 88,582,146	E37K	probably benign	Het
Ttn	T	C	2: 76,899,403		probably benign	Het
Ttr	A	T	18: 20,669,977		probably null	Het
Ubp1	A	G	9: 113,944,931	Y66C	probably damaging	Het
Vmn2r102	A	T	17: 19,677,619	M299L	probably benign	Het
Vmn2r104	A	T	17: 20,042,904	N98K	probably damaging	Het
Yipf5	A	G	18: 40,207,772	S176P	probably benign	Het
Zpbp2	C	T	11: 98,553,937	T97I	probably damaging	Het

Other mutations in Numbl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00976:Numbl	APN	7	27268810	missense	possibly damaging	0.50
IGL01389:Numbl	APN	7	27281047	missense	possibly damaging	0.94
IGL02671:Numbl	APN	7	27264902	missense	probably damaging	1.00
F5770:Numbl	UTSW	7	27279602	missense	probably benign
R0212:Numbl	UTSW	7	27280759	missense	probably damaging	1.00
R1768:Numbl	UTSW	7	27280954	missense	probably benign
R2181:Numbl	UTSW	7	27268921	critical splice donor site	probably null
R5071:Numbl	UTSW	7	27280990	missense	probably damaging	1.00
R5072:Numbl	UTSW	7	27280990	missense	probably damaging	1.00
R5074:Numbl	UTSW	7	27280990	missense	probably damaging	1.00
R6134:Numbl	UTSW	7	27281314	missense	probably damaging	0.98
R6387:Numbl	UTSW	7	27276690	missense	probably damaging	0.99
R6989:Numbl	UTSW	7	27280840	missense	probably damaging	1.00
R7510:Numbl	UTSW	7	27271987	splice site	probably null
R8093:Numbl	UTSW	7	27281036	missense	possibly damaging	0.52
R8518:Numbl	UTSW	7	27264936	missense	probably benign	0.12
R9449:Numbl	UTSW	7	27276902	missense
V7580:Numbl	UTSW	7	27279602	missense	probably benign
V7583:Numbl	UTSW	7	27279602	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGGTCAGCTAAGAGTCTTATCACTTTACA -3'
(R):5'- gggacagcacatcATCTGCTTCAC -3'

Sequencing Primer
(F):5'- ttttttggtttggcttttgttttg -3'
(R):5'- cacatcATCTGCTTCACTGACTTC -3'

Posted On

2013-07-30