Mutagenetix > Incidental Mutation

Incidental Mutation 'R7050:Nab1'

547509

Institutional Source

Beutler Lab

Gene Symbol

Nab1

Ensembl Gene

ENSMUSG00000002881

Gene Name

Ngfi-A binding protein 1

Synonyms

MMRRC Submission

045241-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7050 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52496453-52539838 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 52529894 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000131239 (fasta)

Gene Model

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

AlphaFold

Q61122

Predicted Effect

probably null
Transcript: ENSMUST00000069792
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000066696
Gene: ENSMUSG00000002881
AA Change: M1K

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

probably null
Transcript: ENSMUST00000170269
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131239
Gene: ENSMUSG00000002881
AA Change: M1K

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 null
Transcript: ENSMUST00000186764
AA Change: M1K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141191
Gene: ENSMUSG00000002881
AA Change: M1K

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

0.9722

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

96% (47/49)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	A	11: 109,864,544 (GRCm39)	A346V	possibly damaging	Het
Adcy5	A	T	16: 35,124,070 (GRCm39)	M1250L	possibly damaging	Het
Arhgef38	T	C	3: 132,839,388 (GRCm39)		probably benign	Het
Ascc3	T	A	10: 50,716,446 (GRCm39)	I1944N	probably benign	Het
Cabin1	G	T	10: 75,549,376 (GRCm39)	P1343Q	probably damaging	Het
Cbr3	A	T	16: 93,487,282 (GRCm39)	Q155L	possibly damaging	Het
Cd44	A	G	2: 102,644,482 (GRCm39)	V577A	probably damaging	Het
Coil	C	T	11: 88,872,014 (GRCm39)	T125I	possibly damaging	Het
Fmo3	T	C	1: 162,791,473 (GRCm39)	N268S	probably damaging	Het
Fnip2	T	C	3: 79,413,577 (GRCm39)	T248A	probably damaging	Het
Ggt7	G	A	2: 155,348,295 (GRCm39)	T43I	probably benign	Het
Gm3250	C	A	10: 77,617,814 (GRCm39)	C188F	possibly damaging	Het
Iqce	G	A	5: 140,651,846 (GRCm39)	S375F	possibly damaging	Het
Iqgap3	A	G	3: 88,006,220 (GRCm39)	T544A	probably damaging	Het
Islr	A	G	9: 58,065,000 (GRCm39)	L169P	probably damaging	Het
Kdr	G	T	5: 76,110,780 (GRCm39)	T904N	probably damaging	Het
Mink1	A	G	11: 70,503,158 (GRCm39)	T974A	possibly damaging	Het
Mms19	A	G	19: 41,939,185 (GRCm39)		probably null	Het
Mycl	T	C	4: 122,890,813 (GRCm39)		probably null	Het
Naip6	C	T	13: 100,452,007 (GRCm39)	G202R	probably damaging	Het
Nbeal2	G	A	9: 110,457,788 (GRCm39)	S2159L	probably damaging	Het
Neb	A	T	2: 52,112,888 (GRCm39)	M4302K	possibly damaging	Het
Npy1r	A	G	8: 67,157,192 (GRCm39)	D204G	probably benign	Het
Or2q1	T	A	6: 42,794,504 (GRCm39)	V33D	possibly damaging	Het
Pkdcc	T	A	17: 83,523,073 (GRCm39)	I60N	possibly damaging	Het
Plcxd3	T	C	15: 4,546,200 (GRCm39)	V68A	probably damaging	Het
Prss36	G	T	7: 127,543,937 (GRCm39)	R145S	possibly damaging	Het
Pygl	C	A	12: 70,266,396 (GRCm39)	G40C	probably damaging	Het
Rev1	A	G	1: 38,093,352 (GRCm39)	L1064P	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Serpina3k	T	C	12: 104,307,403 (GRCm39)	F212L	possibly damaging	Het
Slc16a4	A	T	3: 107,208,148 (GRCm39)	E219D	probably benign	Het
Slc6a20b	A	T	9: 123,427,608 (GRCm39)	W434R	probably damaging	Het
Slco1c1	T	A	6: 141,493,652 (GRCm39)	F278Y	probably damaging	Het
Tbx21	T	G	11: 97,005,596 (GRCm39)	D123A	probably benign	Het
Trp73	A	G	4: 154,165,899 (GRCm39)	F35L	probably damaging	Het
Tspan17	T	C	13: 54,943,876 (GRCm39)	V135A	probably benign	Het
Uba2	G	A	7: 33,845,687 (GRCm39)	Q479*	probably null	Het
Ubr2	A	G	17: 47,272,528 (GRCm39)	V889A	probably benign	Het
Unc80	A	G	1: 66,590,067 (GRCm39)		probably null	Het
Vinac1	T	C	2: 128,869,891 (GRCm39)		probably null	Het
Vmn1r45	A	T	6: 89,910,703 (GRCm39)	I89N	probably damaging	Het
Vmn2r11	A	G	5: 109,202,657 (GRCm39)	I140T	probably benign	Het
Yipf2	A	T	9: 21,503,474 (GRCm39)	D24E	probably benign	Het
Zfp251	T	G	15: 76,738,496 (GRCm39)	Q199P	possibly damaging	Het
Zfp37	A	T	4: 62,109,908 (GRCm39)	N385K	possibly damaging	Het
Zfp655	G	A	5: 145,181,545 (GRCm39)	E468K	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
IGL03083:Nab1	APN	1	52,529,429 (GRCm39)	missense	probably benign	0.02
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
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

Predicted Primers

PCR Primer
(F):5'- TCTCTCAAAGCCTTCTGAAGCC -3'
(R):5'- GGGTGCATCTTGAACTACCAG -3'

Sequencing Primer
(F):5'- CTTCTGAAGCCTTCTAACGTGAAG -3'
(R):5'- GAACTACCAGTTGCTTTGCAG -3'

Posted On

2019-05-13