Mutagenetix > Incidental Mutation

Incidental Mutation 'R8197:Nab1'

635472

Institutional Source

Beutler Lab

Gene Symbol

Nab1

Ensembl Gene

ENSMUSG00000002881

Gene Name

Ngfi-A binding protein 1

Synonyms

MMRRC Submission

067620-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8197 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52496453-52539838 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 52529127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 257 (R257*)

Ref Sequence

ENSEMBL: ENSMUSP00000066696 (fasta)

Gene Model

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

AlphaFold

Q61122

Predicted Effect

probably null
Transcript: ENSMUST00000069792
AA Change: R257*

SMART Domains

Protein: ENSMUSP00000066696
Gene: ENSMUSG00000002881
AA Change: R257*

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: R257*

SMART Domains

Protein: ENSMUSP00000131239
Gene: ENSMUSG00000002881
AA Change: R257*

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: R257*

SMART Domains

Protein: ENSMUSP00000141191
Gene: ENSMUSG00000002881
AA Change: R257*

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

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.7%

Validation Efficiency

96% (46/48)

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
Aars1	T	A	8: 111,780,628 (GRCm39)	D836E	probably benign	Het
Abca6	A	C	11: 110,102,641 (GRCm39)	L861R	probably damaging	Het
Adamts18	G	T	8: 114,481,227 (GRCm39)	A560E	probably damaging	Het
Adra2b	A	T	2: 127,206,578 (GRCm39)	Q365L	possibly damaging	Het
Anxa3	A	G	5: 96,982,651 (GRCm39)	T250A	probably benign	Het
B4galt5	T	A	2: 167,144,023 (GRCm39)	N309I	probably benign	Het
Bub1	G	T	2: 127,643,177 (GRCm39)	R1056S	probably damaging	Het
Ccdc185	G	T	1: 182,576,324 (GRCm39)	P122T	possibly damaging	Het
Cdk5rap3	A	G	11: 96,806,975 (GRCm39)		probably null	Het
Cntnap4	T	A	8: 113,296,857 (GRCm39)	Y31N	probably benign	Het
Crygc	T	C	1: 65,112,365 (GRCm39)	M70V	probably benign	Het
Dnah14	A	G	1: 181,517,666 (GRCm39)	E2000G	possibly damaging	Het
Dpp4	T	C	2: 62,203,171 (GRCm39)	N266S	probably benign	Het
Edrf1	T	A	7: 133,249,088 (GRCm39)	D304E	probably benign	Het
Fabp9	T	G	3: 10,259,887 (GRCm39)	K42T	probably benign	Het
Fhl4	T	A	10: 84,934,101 (GRCm39)	I227F	probably damaging	Het
Gm13941	T	C	2: 110,926,921 (GRCm39)		probably null	Het
Gsdmd	T	C	15: 75,736,186 (GRCm39)	I105T	possibly damaging	Het
Gys1	A	G	7: 45,092,348 (GRCm39)	D317G	possibly damaging	Het
Hrh4	A	G	18: 13,154,986 (GRCm39)	Y175C	probably damaging	Het
Igfals	A	G	17: 25,099,278 (GRCm39)	N123S	probably benign	Het
Igkv5-37	A	G	6: 69,940,841 (GRCm39)	V2A	possibly damaging	Het
Iqsec3	A	G	6: 121,389,971 (GRCm39)	L500P	unknown	Het
Itgae	G	A	11: 73,011,210 (GRCm39)	R660Q	probably benign	Het
Kcnip2	T	C	19: 45,782,730 (GRCm39)	I204V	possibly damaging	Het
Kndc1	A	G	7: 139,493,447 (GRCm39)	E471G	probably damaging	Het
Lrrtm3	T	A	10: 63,924,295 (GRCm39)	T291S	possibly damaging	Het
Mast1	T	A	8: 85,639,450 (GRCm39)	H1293L	possibly damaging	Het
Mrnip	A	G	11: 50,090,607 (GRCm39)	E257G	probably benign	Het
Myo9b	T	C	8: 71,743,607 (GRCm39)	Y223H	probably damaging	Het
Ncapd3	C	A	9: 26,997,329 (GRCm39)	L1217I	probably damaging	Het
Or5h18	T	A	16: 58,847,448 (GRCm39)	D274V	probably benign	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Pde4d	T	A	13: 110,084,870 (GRCm39)	I489N	probably damaging	Het
Pdyn	C	T	2: 129,530,277 (GRCm39)	G131R	probably benign	Het
Qrich2	CACCTGCTTGCAACACACCAGGCTGAACTGGACCT	CACCT	11: 116,347,861 (GRCm39)		probably benign	Het
Rps6ka1	T	C	4: 133,592,673 (GRCm39)	K276E	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,121 (GRCm39)		probably benign	Het
Scube2	T	A	7: 109,407,684 (GRCm39)	N752I	possibly damaging	Het
Scyl2	T	C	10: 89,498,228 (GRCm39)	I194V	probably benign	Het
Sec31b	T	G	19: 44,512,955 (GRCm39)	R511S	probably benign	Het
Serpinb6d	T	C	13: 33,851,588 (GRCm39)	F115S	probably damaging	Het
Skint6	T	G	4: 112,752,040 (GRCm39)		probably null	Het
Supt16	G	A	14: 52,411,542 (GRCm39)	P614S	possibly damaging	Het
Tmem114	T	C	16: 8,227,516 (GRCm39)	I182M	probably damaging	Het
Vmn1r125	G	A	7: 21,006,851 (GRCm39)	V250I	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Zfp1005	A	T	2: 150,109,577 (GRCm39)	H89L	possibly damaging	Het
Zfp959	A	T	17: 56,204,677 (GRCm39)	D238V	probably damaging	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
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
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'- TGCAGTGGACAGCAGCAAAC -3'
(R):5'- AAAGCGAGCATAGTCTCTCCC -3'

Sequencing Primer
(F):5'- TGGACAGCAGCAAACACAAGTATG -3'
(R):5'- GAGCATAGTCTCTCCCCAGCAG -3'

Posted On

2020-07-13