Mutagenetix > Incidental Mutation

Incidental Mutation 'R6027:Gan'

501984

Institutional Source

Beutler Lab

Gene Symbol

Gan

Ensembl Gene

ENSMUSG00000052557

Gene Name

giant axonal neuropathy

Synonyms

gigaxonin

MMRRC Submission

044199-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R6027 (G1)

Quality Score

50.0181

Status

Validated

Chromosome

Chromosomal Location

117884720-117932573 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117885034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 54 (Y54C)

Ref Sequence

ENSEMBL: ENSMUSP00000070168 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064488]

AlphaFold

Q8CA72

Predicted Effect

probably damaging
Transcript: ENSMUST00000064488
AA Change: Y54C

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

SMART Domains

Protein: ENSMUSP00000070168
Gene: ENSMUSG00000052557
AA Change: Y54C

Domain	Start	End	E-Value	Type
BTB	30	129	7.1e-21	SMART
BACK	134	236	2.42e-27	SMART
Kelch	274	326	2.23e-1	SMART
Kelch	327	374	3.41e-11	SMART
Kelch	375	421	1.39e-2	SMART
Kelch	422	468	2.23e-6	SMART
Kelch	528	577	2.09e1	SMART
low complexity region	580	591	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000162997
AA Change: Y53C

SMART Domains

Protein: ENSMUSP00000124904
Gene: ENSMUSG00000052557
AA Change: Y53C

Domain	Start	End	E-Value	Type
BTB	30	129	7.1e-21	SMART
BACK	134	236	2.42e-27	SMART
Kelch	274	326	2.23e-1	SMART
Kelch	327	374	3.41e-11	SMART
Kelch	375	421	1.39e-2	SMART
Kelch	422	468	2.23e-6	SMART
Kelch	528	577	2.09e1	SMART
low complexity region	580	591	N/A	INTRINSIC

Meta Mutation Damage Score

0.4528

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

100% (68/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The encoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination and degradation of some proteins. Defects in this gene are a cause of giant axonal neuropathy (GAN). [provided by RefSeq, Oct 2008]
PHENOTYPE: Null homozygotes display some muscular atrophy and motor neuron degeneration with the severity of these symptoms depending on genotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,289,003 (GRCm39)	V2299A	probably benign	Het
Acacb	A	G	5: 114,303,661 (GRCm39)	D28G	probably benign	Het
Adamts6	G	A	13: 104,616,043 (GRCm39)	G1035D	probably damaging	Het
Adamts7	A	C	9: 90,073,078 (GRCm39)	Y755S	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ank2	T	C	3: 126,791,528 (GRCm39)	T763A	possibly damaging	Het
Armc9	G	C	1: 86,172,389 (GRCm39)	L105F	probably damaging	Het
Asah2	T	C	19: 32,022,351 (GRCm39)	N228D	probably benign	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Aspm	T	G	1: 139,390,794 (GRCm39)	V693G	probably damaging	Het
Bptf	T	C	11: 106,965,771 (GRCm39)	E1141G	probably damaging	Het
Col12a1	C	T	9: 79,563,860 (GRCm39)		probably null	Het
Csmd2	G	A	4: 128,453,739 (GRCm39)	D3475N	unknown	Het
Dctn5	T	C	7: 121,732,564 (GRCm39)		probably benign	Het
Dhrs4	A	G	14: 55,723,580 (GRCm39)	K18E	probably benign	Het
Eci2	A	T	13: 35,169,930 (GRCm39)		probably null	Het
Efcab6	A	G	15: 83,851,922 (GRCm39)	F319L	probably benign	Het
Elane	A	T	10: 79,722,852 (GRCm39)	H86L	probably damaging	Het
Endod1	A	T	9: 14,268,893 (GRCm39)	Y197*	probably null	Het
Eno4	A	G	19: 58,935,262 (GRCm39)	D158G	probably damaging	Het
Fam217a	T	A	13: 35,094,977 (GRCm39)	T170S	possibly damaging	Het
Fbxo7	A	G	10: 85,883,950 (GRCm39)	D517G	probably damaging	Het
Fkbp3	G	T	12: 65,120,692 (GRCm39)	A2E	possibly damaging	Het
Gdap1l1	T	A	2: 163,293,531 (GRCm39)	N194K	possibly damaging	Het
Gnptab	A	G	10: 88,269,087 (GRCm39)	T597A	probably damaging	Het
Hmcn1	A	G	1: 150,678,646 (GRCm39)	S492P	possibly damaging	Het
Hmox1	C	A	8: 75,823,499 (GRCm39)	H56N	probably damaging	Het
Kank3	C	T	17: 34,037,088 (GRCm39)	P131S	possibly damaging	Het
Kif14	T	C	1: 136,410,797 (GRCm39)		probably null	Het
Kif1a	A	T	1: 92,953,365 (GRCm39)	M1274K	probably benign	Het
Kmt2a	A	T	9: 44,730,587 (GRCm39)		probably benign	Het
Lypla1	T	C	1: 4,907,299 (GRCm39)		probably null	Het
Man2b1	C	T	8: 85,823,381 (GRCm39)	T905I	probably damaging	Het
Mmp15	C	A	8: 96,098,804 (GRCm39)	H544N	probably benign	Het
Myh7	A	T	14: 55,208,259 (GRCm39)	N1933K	probably benign	Het
Ndst4	G	T	3: 125,507,025 (GRCm39)	A730S	probably benign	Het
Nmur1	G	A	1: 86,315,053 (GRCm39)	Q238*	probably null	Het
Nwd2	C	T	5: 63,965,563 (GRCm39)	P1716S	possibly damaging	Het
Or13c7c	A	G	4: 43,835,842 (GRCm39)	V216A	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Or8k38	T	G	2: 86,488,148 (GRCm39)	Y218S	probably damaging	Het
P2ry6	T	G	7: 100,587,715 (GRCm39)	M215L	probably benign	Het
Parp4	G	A	14: 56,866,615 (GRCm39)	E1060K	probably benign	Het
Pde10a	A	G	17: 9,183,509 (GRCm39)	I822V	possibly damaging	Het
Pira13	T	C	7: 3,827,638 (GRCm39)	Y173C	possibly damaging	Het
Pkd1l1	C	A	11: 8,866,272 (GRCm39)	G528*	probably null	Het
Ptk2	T	A	15: 73,101,762 (GRCm39)	Q816L	probably damaging	Het
Ptprg	T	C	14: 12,220,613 (GRCm38)	F442L	possibly damaging	Het
Qrfpr	A	G	3: 36,276,187 (GRCm39)	Y68H	probably benign	Het
Ripk4	A	G	16: 97,545,274 (GRCm39)	W458R	probably damaging	Het
Ros1	G	T	10: 52,040,064 (GRCm39)	T309N	possibly damaging	Het
Rps27a	T	C	11: 29,497,808 (GRCm39)		probably benign	Het
Sarm1	T	A	11: 78,374,384 (GRCm39)	M577L	probably benign	Het
Scin	T	C	12: 40,127,515 (GRCm39)	Y425C	probably damaging	Het
Serpina12	T	A	12: 103,997,336 (GRCm39)	Y395F	probably benign	Het
Sfxn2	T	A	19: 46,571,291 (GRCm39)	Y69*	probably null	Het
Skint6	T	C	4: 112,953,761 (GRCm39)		probably null	Het
Slc7a1	A	C	5: 148,270,774 (GRCm39)	I564S	possibly damaging	Het
Smc6	T	A	12: 11,356,179 (GRCm39)	Y933N	probably benign	Het
Sp110	T	C	1: 85,505,039 (GRCm39)	S438G	possibly damaging	Het
St8sia4	T	A	1: 95,581,399 (GRCm39)	R114S	probably damaging	Het
Trim11	C	T	11: 58,869,289 (GRCm39)	A75V	possibly damaging	Het
Tufm	T	A	7: 126,086,920 (GRCm39)	H68Q	probably damaging	Het
Ythdc2	T	A	18: 44,993,503 (GRCm39)	D194E	probably benign	Het

Other mutations in Gan

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00581:Gan	APN	8	117,920,063 (GRCm39)	missense	probably damaging	0.98
IGL01132:Gan	APN	8	117,923,183 (GRCm39)	splice site	probably benign
IGL01622:Gan	APN	8	117,913,917 (GRCm39)	missense	probably damaging	1.00
IGL01623:Gan	APN	8	117,913,917 (GRCm39)	missense	probably damaging	1.00
IGL03093:Gan	APN	8	117,910,314 (GRCm39)	missense	probably benign
R1534:Gan	UTSW	8	117,914,168 (GRCm39)	missense	probably benign	0.04
R1795:Gan	UTSW	8	117,923,199 (GRCm39)	missense	possibly damaging	0.57
R2027:Gan	UTSW	8	117,914,238 (GRCm39)	critical splice donor site	probably null
R2967:Gan	UTSW	8	117,910,265 (GRCm39)	missense	probably damaging	0.98
R3906:Gan	UTSW	8	117,920,873 (GRCm39)	missense	probably damaging	1.00
R4735:Gan	UTSW	8	117,920,970 (GRCm39)	missense	probably damaging	0.98
R5985:Gan	UTSW	8	117,922,557 (GRCm39)	missense	possibly damaging	0.89
R7002:Gan	UTSW	8	117,922,586 (GRCm39)	missense	possibly damaging	0.89
R7133:Gan	UTSW	8	117,913,969 (GRCm39)	nonsense	probably null
R8401:Gan	UTSW	8	117,910,242 (GRCm39)	missense	possibly damaging	0.83
R8834:Gan	UTSW	8	117,885,031 (GRCm39)	missense
R9623:Gan	UTSW	8	117,914,219 (GRCm39)	missense	probably damaging	1.00
X0023:Gan	UTSW	8	117,917,123 (GRCm39)	missense	probably benign	0.01
Z31818:Gan	UTSW	8	117,922,536 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGACTCCAGAGCTTCACTC -3'
(R):5'- AGGTAAAACTTCTGCGGGG -3'

Sequencing Primer
(F):5'- AGCTTCACTCAGTCCGGG -3'
(R):5'- CGGCCTGTACACCGTGTTTG -3'

Posted On

2018-02-08