Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03083:Nab1'

417959

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nab1

Ensembl Gene

ENSMUSG00000002881

Gene Name

Ngfi-A binding protein 1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03083

Quality Score

Status

Chromosome

Chromosomal Location

52496453-52539838 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52529429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 156 (D156G)

Ref Sequence

ENSEMBL: ENSMUSP00000141191 (fasta)

Gene Model

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

AlphaFold

Q61122

Predicted Effect

probably benign
Transcript: ENSMUST00000069792
AA Change: D156G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000066696
Gene: ENSMUSG00000002881
AA Change: D156G

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

probably benign
Transcript: ENSMUST00000170269
AA Change: D156G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131239
Gene: ENSMUSG00000002881
AA Change: D156G

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

probably benign
Transcript: ENSMUST00000186764
AA Change: D156G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000141191
Gene: ENSMUSG00000002881
AA Change: D156G

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

Coding Region Coverage

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,932,261 (GRCm39)		probably null	Het
Acadsb	A	C	7: 131,042,922 (GRCm39)		probably benign	Het
Ankk1	A	G	9: 49,333,166 (GRCm39)	L106P	probably benign	Het
Ankrd24	G	A	10: 81,474,483 (GRCm39)	A72T	probably benign	Het
Ankrd35	A	T	3: 96,592,117 (GRCm39)	Q801L	probably damaging	Het
Avil	A	G	10: 126,852,193 (GRCm39)	I659M	probably benign	Het
Ccnc	A	G	4: 21,742,683 (GRCm39)	D170G	possibly damaging	Het
Cfap57	T	C	4: 118,441,936 (GRCm39)	K711E	probably damaging	Het
Dctn1	T	C	6: 83,174,466 (GRCm39)		probably benign	Het
Dpp6	T	C	5: 27,914,548 (GRCm39)		probably null	Het
Efhb	A	T	17: 53,706,087 (GRCm39)	W817R	probably damaging	Het
Emilin3	G	A	2: 160,750,649 (GRCm39)	Q320*	probably null	Het
Fer1l4	A	G	2: 155,881,286 (GRCm39)		probably benign	Het
Fgf8	T	C	19: 45,725,667 (GRCm39)	N137S	probably damaging	Het
Fndc3b	T	C	3: 27,521,576 (GRCm39)	D533G	probably benign	Het
Fshb	A	G	2: 106,887,812 (GRCm39)	V69A	probably benign	Het
Galnt7	A	T	8: 57,979,223 (GRCm39)	H633Q	probably damaging	Het
Gm5458	A	G	14: 19,652,451 (GRCm39)		probably null	Het
Hjv	T	A	3: 96,435,922 (GRCm39)	D393E	probably benign	Het
Hpca	A	C	4: 129,012,319 (GRCm39)	F72L	probably damaging	Het
Inpp5d	A	T	1: 87,638,863 (GRCm39)	D552V	probably damaging	Het
Lepr	C	T	4: 101,671,876 (GRCm39)	Q967*	probably null	Het
Lgr5	A	G	10: 115,288,937 (GRCm39)	V497A	probably benign	Het
Matr3	A	G	18: 35,705,471 (GRCm39)	K132R	probably damaging	Het
Mib1	T	G	18: 10,752,029 (GRCm39)		probably null	Het
Mios	T	A	6: 8,215,156 (GRCm39)	N117K	probably damaging	Het
Nfxl1	C	T	5: 72,698,005 (GRCm39)		probably benign	Het
Nutm2	G	A	13: 50,621,480 (GRCm39)	G15E	probably damaging	Het
Oca2	A	G	7: 55,945,232 (GRCm39)	H280R	probably benign	Het
Or10al2	C	A	17: 37,983,551 (GRCm39)	C212*	probably null	Het
Or4d1	T	C	11: 87,804,914 (GRCm39)	I273V	probably benign	Het
P2ry1	A	G	3: 60,911,736 (GRCm39)	T292A	probably benign	Het
Pcna	C	T	2: 132,093,673 (GRCm39)	E109K	probably benign	Het
Pidd1	A	G	7: 141,020,369 (GRCm39)		probably null	Het
Pitpnm2	T	C	5: 124,271,445 (GRCm39)	E376G	possibly damaging	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Polr2a	T	C	11: 69,635,872 (GRCm39)		probably null	Het
Sbno2	A	T	10: 79,893,368 (GRCm39)	M1311K	probably damaging	Het
Senp7	A	G	16: 55,992,228 (GRCm39)	N701S	probably benign	Het
Sirpa	T	A	2: 129,471,848 (GRCm39)	I211N	probably damaging	Het
Slc9a4	A	G	1: 40,668,562 (GRCm39)	E735G	probably benign	Het
Sorbs1	C	T	19: 40,302,820 (GRCm39)	M790I	probably damaging	Het
Sult1e1	T	A	5: 87,737,983 (GRCm39)	M33L	probably benign	Het
Tapbpl	G	A	6: 125,205,191 (GRCm39)		probably null	Het
Top1	A	G	2: 160,545,498 (GRCm39)	T289A	probably damaging	Het
Trim58	T	A	11: 58,542,216 (GRCm39)	M392K	probably benign	Het
Uaca	A	G	9: 60,770,945 (GRCm39)	I371V	probably benign	Het
Vmn1r54	T	C	6: 90,246,854 (GRCm39)	I256T	possibly damaging	Het
Wdr19	T	C	5: 65,388,319 (GRCm39)	I668T	probably benign	Het

Other mutations in Nab1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02633:Nab1	APN	1	52,529,292 (GRCm39)	missense	probably damaging	1.00
R0464:Nab1	UTSW	1	52,529,174 (GRCm39)	missense	possibly damaging	0.95
R1162:Nab1	UTSW	1	52,529,186 (GRCm39)	missense	probably damaging	1.00
R2395:Nab1	UTSW	1	52,529,741 (GRCm39)	missense	probably damaging	1.00
R4354:Nab1	UTSW	1	52,529,855 (GRCm39)	missense	probably damaging	1.00
R6369:Nab1	UTSW	1	52,529,381 (GRCm39)	missense	probably damaging	1.00
R6379:Nab1	UTSW	1	52,520,156 (GRCm39)	missense	probably damaging	1.00
R6913:Nab1	UTSW	1	52,503,995 (GRCm39)	missense	possibly damaging	0.91
R7050:Nab1	UTSW	1	52,529,894 (GRCm39)	start codon destroyed	probably null	1.00
R7233:Nab1	UTSW	1	52,498,378 (GRCm39)	makesense	probably null
R7378:Nab1	UTSW	1	52,520,154 (GRCm39)	missense	probably damaging	1.00
R7968:Nab1	UTSW	1	52,529,295 (GRCm39)	missense	probably damaging	1.00
R8197:Nab1	UTSW	1	52,529,127 (GRCm39)	nonsense	probably null
R8924:Nab1	UTSW	1	52,529,667 (GRCm39)	missense	possibly damaging	0.89
R9010:Nab1	UTSW	1	52,529,610 (GRCm39)	missense	possibly damaging	0.89
R9200:Nab1	UTSW	1	52,529,525 (GRCm39)	missense	possibly damaging	0.48
R9788:Nab1	UTSW	1	52,529,166 (GRCm39)	missense	possibly damaging	0.92
RF003:Nab1	UTSW	1	52,518,441 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02