Mutagenetix > Incidental Mutation

Incidental Mutation 'R9788:Nab1'

734420

Institutional Source

Beutler Lab

Gene Symbol

Nab1

Ensembl Gene

ENSMUSG00000002881

Gene Name

Ngfi-A binding protein 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9788 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52496453-52539838 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52529166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 244 (K244E)

Ref Sequence

ENSEMBL: ENSMUSP00000066696 (fasta)

Gene Model

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

AlphaFold

Q61122

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069792
AA Change: K244E

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000066696
Gene: ENSMUSG00000002881
AA Change: K244E

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

possibly damaging
Transcript: ENSMUST00000170269
AA Change: K244E

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131239
Gene: ENSMUSG00000002881
AA Change: K244E

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: K244E

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141191
Gene: ENSMUSG00000002881
AA Change: K244E

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

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,192,253 (GRCm39)	M753K	probably damaging	Het
Adcy7	A	G	8: 89,045,733 (GRCm39)	T572A	probably benign	Het
Bmp8b	A	G	4: 122,999,369 (GRCm39)	M76V	probably damaging	Het
C2cd2	A	G	16: 97,723,473 (GRCm39)	S15P	possibly damaging	Het
Cfh	T	C	1: 140,036,499 (GRCm39)	I702V	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Cntln	G	A	4: 84,968,093 (GRCm39)	V771M	probably damaging	Het
Ear2	A	G	14: 44,340,705 (GRCm39)	Y121C	probably damaging	Het
Ect2l	C	T	10: 18,041,347 (GRCm39)	C369Y	possibly damaging	Het
Elapor1	G	A	3: 108,377,297 (GRCm39)	T387I	possibly damaging	Het
Ephb4	T	G	5: 137,363,743 (GRCm39)	Y583D	probably damaging	Het
Gabra2	T	C	5: 71,192,140 (GRCm39)	D63G	probably benign	Het
Gfra1	A	G	19: 58,441,652 (GRCm39)	M93T	probably damaging	Het
Gm3604	A	T	13: 62,519,724 (GRCm39)	H10Q	possibly damaging	Het
Gtf2b	AATCATC	AATC	3: 142,477,178 (GRCm39)		probably benign	Het
Herc1	A	C	9: 66,307,185 (GRCm39)	I1002L	probably benign	Het
Hmcn1	T	C	1: 150,528,333 (GRCm39)	I3272V	probably benign	Het
Izumo3	A	G	4: 92,035,037 (GRCm39)	I60T	probably benign	Het
Jakmip2	T	A	18: 43,704,927 (GRCm39)	N358I	probably damaging	Het
Klra9	T	A	6: 130,159,385 (GRCm39)	K209N	possibly damaging	Het
Ldah	A	T	12: 8,333,946 (GRCm39)	Y279F	possibly damaging	Het
Lrrcc1	T	A	3: 14,602,286 (GRCm39)	H126Q	probably damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mipep	A	G	14: 61,083,893 (GRCm39)	T595A	probably damaging	Het
Mms22l	A	G	4: 24,586,204 (GRCm39)	T859A	probably benign	Het
Mogat1	A	G	1: 78,499,342 (GRCm39)	M39V	probably benign	Het
Muc6	T	C	7: 141,232,100 (GRCm39)	D968G	probably damaging	Het
Nr1h4	A	G	10: 89,314,638 (GRCm39)		probably null	Het
Nxph1	A	G	6: 9,247,418 (GRCm39)	T130A	probably damaging	Het
Obscn	A	G	11: 58,969,678 (GRCm39)	V2426A	possibly damaging	Het
Or10j7	C	T	1: 173,011,458 (GRCm39)	R181H	probably benign	Het
Or11l3	T	A	11: 58,516,692 (GRCm39)	Y60F	probably benign	Het
Or1e31	T	C	11: 73,689,768 (GRCm39)	T272A	probably benign	Het
Or4m1	A	G	14: 50,558,181 (GRCm39)	F37S	probably benign	Het
Or5p4	T	C	7: 107,680,745 (GRCm39)	V248A	probably damaging	Het
Or8g21	A	G	9: 38,906,296 (GRCm39)	V145A	possibly damaging	Het
Osbpl3	A	G	6: 50,324,344 (GRCm39)		probably null	Het
Otop3	T	A	11: 115,235,087 (GRCm39)	C259S	unknown	Het
Pcsk5	A	G	19: 17,455,245 (GRCm39)	Y1062H	probably benign	Het
Phf21a	T	C	2: 92,181,978 (GRCm39)		probably null	Het
Plch1	T	C	3: 63,681,136 (GRCm39)	I164V	probably benign	Het
Plekhh2	T	A	17: 84,854,892 (GRCm39)	M42K	possibly damaging	Het
Plekhm3	T	C	1: 64,961,422 (GRCm39)	D278G	possibly damaging	Het
Plod3	A	G	5: 137,019,911 (GRCm39)	Y447C	probably damaging	Het
Psg16	T	C	7: 16,824,524 (GRCm39)	S12P	possibly damaging	Het
Ptprq	A	T	10: 107,401,751 (GRCm39)	C1914S	probably benign	Het
Rai1	A	G	11: 60,078,080 (GRCm39)	T715A	possibly damaging	Het
Rsad2	G	A	12: 26,500,577 (GRCm39)	H237Y	probably benign	Het
Sarm1	A	G	11: 78,378,863 (GRCm39)	L394P	probably damaging	Het
Scube1	A	G	15: 83,535,901 (GRCm39)	S258P	possibly damaging	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc22a26	G	A	19: 7,763,798 (GRCm39)	P412S	probably benign	Het
Son	TATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGTTCCATGGACTCCCAGATGTTAGCA	TATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGTTCCATGGACTCCCAGATGTTAGCA	16: 91,453,699 (GRCm39)		probably benign	Het
Synrg	A	T	11: 83,877,781 (GRCm39)	H342L	probably benign	Het
Tenm3	T	C	8: 48,788,596 (GRCm39)	Y478C	probably benign	Het
Tlr9	C	T	9: 106,101,006 (GRCm39)	P99L	probably damaging	Het
Trip4	T	C	9: 65,740,702 (GRCm39)	E535G	probably benign	Het
Utp20	A	G	10: 88,653,171 (GRCm39)	L303P	probably damaging	Het
Vmn2r2	T	C	3: 64,041,942 (GRCm39)	N258D	possibly damaging	Het
Zfp616	G	A	11: 73,975,276 (GRCm39)	G515D	probably damaging	Het
Zfp786	A	G	6: 47,797,816 (GRCm39)	L374P	probably benign	Het
Zfp82	C	T	7: 29,755,963 (GRCm39)	R373H	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
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
RF003:Nab1	UTSW	1	52,518,441 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCAGTGGACAGCAGCAAAC -3'
(R):5'- GCCTCTCCAAAGGAAAGCAG -3'

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

Posted On

2022-11-14