Mutagenetix > Incidental Mutation

Incidental Mutation 'R6369:Nab1'

512827

Institutional Source

Beutler Lab

Gene Symbol

Nab1

Ensembl Gene

ENSMUSG00000002881

Gene Name

Ngfi-A binding protein 1

Synonyms

MMRRC Submission

044519-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6369 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52457294-52500679 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52490222 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 172 (L172P)

Ref Sequence

ENSEMBL: ENSMUSP00000066696 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069792] [ENSMUST00000170269] [ENSMUST00000186764]

AlphaFold

Q61122

Predicted Effect

probably damaging
Transcript: ENSMUST00000069792
AA Change: L172P

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

SMART Domains

Protein: ENSMUSP00000066696
Gene: ENSMUSG00000002881
AA Change: L172P

Domain	Start	End	E-Value	Type
Pfam:NCD1	5	83	1.6e-44	PFAM
low complexity region	113	122	N/A	INTRINSIC
Pfam:NCD2	155	317	3.2e-68	PFAM
Pfam:Nab1	321	485	4.4e-55	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168082

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170269
AA Change: L172P

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000131239
Gene: ENSMUSG00000002881
AA Change: L172P

Domain	Start	End	E-Value	Type
Pfam:NCD1	3	84	2.5e-50	PFAM
low complexity region	113	122	N/A	INTRINSIC
Pfam:NCD2	163	319	8.4e-84	PFAM
Pfam:Nab1	333	456	9e-79	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186764
AA Change: L172P

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141191
Gene: ENSMUSG00000002881
AA Change: L172P

Domain	Start	End	E-Value	Type
Pfam:NCD1	3	84	2.1e-46	PFAM
low complexity region	113	122	N/A	INTRINSIC
Pfam:NCD2	163	319	7.1e-80	PFAM
Pfam:Nab1	321	485	9.2e-101	PFAM

Meta Mutation Damage Score

0.1671

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

98% (54/55)

MGI Phenotype

PHENOTYPE: Homozygous null mice are viable and fertile with normal myelination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	C	T	17: 13,835,343	R571*	probably null	Het
Asb18	A	T	1: 90,014,471	I36N	probably damaging	Het
Ascc3	G	A	10: 50,699,985	G779S	probably damaging	Het
Atl2	T	C	17: 79,854,555	Q205R	probably damaging	Het
Axdnd1	A	G	1: 156,392,745	I235T	probably damaging	Het
Bri3bp	A	G	5: 125,454,701	N237S	probably damaging	Het
Ccdc191	A	G	16: 43,915,485	N256S	probably benign	Het
Cchcr1	T	C	17: 35,528,176	I474T	probably damaging	Het
Cd209c	T	C	8: 3,944,984	Y60C	probably damaging	Het
Cd300c	C	A	11: 114,957,555	D171Y	probably damaging	Het
Crb1	C	T	1: 139,237,462	V975M	probably damaging	Het
Csmd1	C	T	8: 17,535,004		probably benign	Het
Ctnna2	A	G	6: 76,980,695	S524P	possibly damaging	Het
Eno1	T	C	4: 150,239,568		probably null	Het
Ero1l	T	C	14: 45,299,958	I170M	probably damaging	Het
Fam186a	A	G	15: 99,947,331	M344T	unknown	Het
Frem1	A	T	4: 82,913,792		probably null	Het
Gjb5	G	T	4: 127,355,930	D140E	possibly damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Hk2	G	T	6: 82,736,753	S449R	probably damaging	Het
Hs3st3a1	A	T	11: 64,520,601	I322F	probably benign	Het
Itga1	T	C	13: 114,965,660	I1145V	probably damaging	Het
Kcp	A	G	6: 29,484,694	L1295S	probably damaging	Het
Macf1	T	C	4: 123,410,562	D49G	possibly damaging	Het
Mef2b	T	A	8: 70,165,559	D96E	probably benign	Het
Megf10	A	T	18: 57,261,187	D461V	probably benign	Het
Myom1	T	C	17: 71,101,076	S1104P	probably damaging	Het
Olfr123	T	G	17: 37,795,496	D17E	probably benign	Het
Pate1	A	G	9: 35,687,028	V18A	probably benign	Het
Pink1	T	C	4: 138,320,734		probably null	Het
Pnpla1	T	A	17: 28,878,481	I207N	probably damaging	Het
Ppp1r12b	T	C	1: 134,886,542	E341G	possibly damaging	Het
Ppp1r21	C	A	17: 88,582,412		probably null	Het
Rad52	A	G	6: 119,914,207	E76G	unknown	Het
Rad54l	A	G	4: 116,111,189		probably null	Het
Rasgrf2	T	C	13: 92,131,446	M17V	probably benign	Het
Rbm42	A	G	7: 30,641,313	M411T	unknown	Het
Reln	A	G	5: 22,051,361	I495T	probably benign	Het
Rnf224	A	G	2: 25,235,942	F133S	probably damaging	Het
Rrm1	C	A	7: 102,446,702	H87Q	probably damaging	Het
Sec14l2	T	C	11: 4,103,962	D235G	possibly damaging	Het
Serpinb3d	G	T	1: 107,080,753	N127K	probably benign	Het
Skint7	A	T	4: 111,980,293	E89D	probably benign	Het
Slc22a5	T	G	11: 53,891,370	N57T	probably damaging	Het
Smarcd3	A	T	5: 24,594,984	F263I	probably damaging	Het
Sncaip	A	G	18: 52,868,604	I66V	probably damaging	Het
Syngr1	A	C	15: 80,115,590		probably benign	Het
Tbc1d2	A	G	4: 46,614,420	Y554H	probably benign	Het
Tmem198	T	C	1: 75,479,743	V44A	probably benign	Het
Trappc11	T	C	8: 47,512,285		probably null	Het
Uox	C	T	3: 146,624,577	R163*	probably null	Het
Vmn2r111	C	T	17: 22,548,602	C638Y	probably damaging	Het
Washc4	A	G	10: 83,574,444	Y632C	probably damaging	Het
Zfp212	T	C	6: 47,930,897	V270A	probably benign	Het
Zfp92	G	A	X: 73,421,968	R189H	possibly damaging	Homo

Other mutations in Nab1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02633:Nab1	APN	1	52490133	missense	probably damaging	1.00
IGL03083:Nab1	APN	1	52490270	missense	probably benign	0.02
R0464:Nab1	UTSW	1	52490015	missense	possibly damaging	0.95
R1162:Nab1	UTSW	1	52490027	missense	probably damaging	1.00
R2395:Nab1	UTSW	1	52490582	missense	probably damaging	1.00
R4354:Nab1	UTSW	1	52490696	missense	probably damaging	1.00
R6379:Nab1	UTSW	1	52480997	missense	probably damaging	1.00
R6913:Nab1	UTSW	1	52464836	missense	possibly damaging	0.91
R7050:Nab1	UTSW	1	52490735	start codon destroyed	probably null	1.00
R7233:Nab1	UTSW	1	52459219	makesense	probably null
R7378:Nab1	UTSW	1	52480995	missense	probably damaging	1.00
R7968:Nab1	UTSW	1	52490136	missense	probably damaging	1.00
R8197:Nab1	UTSW	1	52489968	nonsense	probably null
R8924:Nab1	UTSW	1	52490508	missense	possibly damaging	0.89
R9010:Nab1	UTSW	1	52490451	missense	possibly damaging	0.89
R9200:Nab1	UTSW	1	52490366	missense	possibly damaging	0.48
R9788:Nab1	UTSW	1	52490007	missense	possibly damaging	0.92
RF003:Nab1	UTSW	1	52479282	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACCGATCATTTTGGCCAACTTC -3'
(R):5'- AATTACCAGAGGGATCGCCAAC -3'

Sequencing Primer
(F):5'- GATCATTTTGGCCAACTTCTTATTG -3'
(R):5'- CAACATGGCTGGGGATATCCTG -3'

Posted On

2018-04-27