Mutagenetix > Incidental Mutation

Incidental Mutation 'R7689:Gdap1'

593231

Institutional Source

Beutler Lab

Gene Symbol

Gdap1

Ensembl Gene

ENSMUSG00000025777

Gene Name

ganglioside-induced differentiation-associated-protein 1

Synonyms

MMRRC Submission

045753-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7689 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17215586-17234495 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17231623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 323 (T323A)

Ref Sequence

ENSEMBL: ENSMUSP00000026879 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026879] [ENSMUST00000189736]

AlphaFold

O88741

Predicted Effect

probably damaging
Transcript: ENSMUST00000026879
AA Change: T323A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000026879
Gene: ENSMUSG00000025777
AA Change: T323A

Domain	Start	End	E-Value	Type
Pfam:GST_N	24	99	2.8e-15	PFAM
Pfam:GST_N_3	28	105	8.1e-18	PFAM
Pfam:GST_N_2	33	100	2.7e-12	PFAM
Pfam:GST_C	148	287	3.5e-10	PFAM
Pfam:GST_C_2	160	282	5.8e-13	PFAM
Pfam:GST_C_3	164	285	8.5e-10	PFAM
transmembrane domain	292	309	N/A	INTRINSIC
transmembrane domain	319	341	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189736

SMART Domains

Protein: ENSMUSP00000140406
Gene: ENSMUSG00000025777

Domain	Start	End	E-Value	Type
SCOP:d1eema2	19	55	4e-5	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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 ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a null allele develop motor deficits and a peripheral neuropathy with loss of motor neurons and abnormal neuromuscular junctions. Cultured motor neurons show large and abnormal mitochondria, reduced axon length, changes in the ER cisternae, and altered calcium ion homeostasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	A	4: 148,029,440 (GRCm39)	F470Y	probably damaging	Het
Adra1a	T	C	14: 66,875,250 (GRCm39)	L75P	probably damaging	Het
Agap1	T	C	1: 89,762,188 (GRCm39)	S560P	probably damaging	Het
Ahcyl	T	C	16: 45,974,970 (GRCm39)	T136A	probably benign	Het
Arrdc4	T	A	7: 68,391,623 (GRCm39)	I215L	probably damaging	Het
Atad3a	C	T	4: 155,840,610 (GRCm39)	A97T	probably damaging	Het
Bcas3	A	T	11: 85,386,713 (GRCm39)	T383S	probably benign	Het
C2cd5	G	A	6: 142,995,951 (GRCm39)	R379*	probably null	Het
Cacna1e	G	T	1: 154,274,549 (GRCm39)	H2138N	probably benign	Het
Card14	A	T	11: 119,216,328 (GRCm39)	D303V	possibly damaging	Het
Ccdc202	T	C	14: 96,119,252 (GRCm39)	V3A	probably benign	Het
Cfhr1	T	C	1: 139,475,478 (GRCm39)	Y331C	unknown	Het
Chp1	G	A	2: 119,415,146 (GRCm39)	D183N	probably benign	Het
Cntn2	T	C	1: 132,443,882 (GRCm39)	T966A	probably benign	Het
Cpne9	T	G	6: 113,266,965 (GRCm39)	C133G	probably damaging	Het
Cspg4b	A	G	13: 113,515,948 (GRCm39)	T121A		Het
Cul7	C	T	17: 46,963,747 (GRCm39)	Q275*	probably null	Het
Cyp11b1	T	C	15: 74,710,897 (GRCm39)	D221G	probably benign	Het
Dmxl1	T	A	18: 49,979,685 (GRCm39)	F107I	probably benign	Het
Dnhd1	A	G	7: 105,363,170 (GRCm39)	I3911V	probably benign	Het
Eif1ad16	A	G	12: 87,985,259 (GRCm39)	Y95H	probably damaging	Het
Eloa	T	C	4: 135,736,595 (GRCm39)	H551R	probably benign	Het
Fam171b	T	A	2: 83,709,732 (GRCm39)	V468D	probably benign	Het
Fat2	A	G	11: 55,200,666 (GRCm39)	W803R	probably damaging	Het
Fbxo43	T	C	15: 36,163,201 (GRCm39)	D2G	probably benign	Het
Fbxo8	A	G	8: 57,041,120 (GRCm39)	T179A	probably benign	Het
Gm136	T	C	4: 34,743,875 (GRCm39)	N323S	probably null	Het
Gm6899	A	T	11: 26,543,819 (GRCm39)	T129S	unknown	Het
Gnb3	A	T	6: 124,814,183 (GRCm39)	C166S	possibly damaging	Het
Gpr61	A	G	3: 108,057,966 (GRCm39)	F232L	probably damaging	Het
Gpx8	T	C	13: 113,179,711 (GRCm39)	M197V	probably benign	Het
Gse1	G	T	8: 121,295,217 (GRCm39)	R446L	unknown	Het
Itch	A	T	2: 155,054,987 (GRCm39)	T764S	probably benign	Het
Itch	A	G	2: 155,051,922 (GRCm39)	K614E	probably damaging	Het
Itpkb	T	G	1: 180,241,544 (GRCm39)	M738R	probably damaging	Het
Jph1	T	A	1: 17,074,192 (GRCm39)	K609*	probably null	Het
Kcns1	G	A	2: 164,010,241 (GRCm39)	R173C	probably damaging	Het
Larp4b	C	T	13: 9,186,834 (GRCm39)	S54L	probably damaging	Het
Lonrf1	G	T	8: 36,715,918 (GRCm39)	S239*	probably null	Het
Lyst	T	G	13: 13,857,808 (GRCm39)		probably null	Het
Mccc1	T	A	3: 36,015,132 (GRCm39)	R663*	probably null	Het
Mcm3	A	G	1: 20,876,997 (GRCm39)	V646A	probably benign	Het
Mdn1	T	C	4: 32,739,912 (GRCm39)	L3722P	probably damaging	Het
Mmp27	T	G	9: 7,579,002 (GRCm39)	D392E	probably damaging	Het
Ms4a14	A	G	19: 11,279,906 (GRCm39)	I884T	probably benign	Het
Muc4	C	T	16: 32,574,439 (GRCm39)	T963I	probably benign	Het
Muc6	G	C	7: 141,217,659 (GRCm39)	P2338R	probably damaging	Het
Mucl3	C	A	17: 35,948,969 (GRCm39)	S210I	possibly damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Ndrg2	C	T	14: 52,147,812 (GRCm39)	A102T	possibly damaging	Het
Nhsl3	T	C	4: 129,117,566 (GRCm39)	N411S	probably benign	Het
Nos1	A	G	5: 118,035,792 (GRCm39)	D431G	probably damaging	Het
Oog4	CAA	CA	4: 143,164,022 (GRCm39)		probably null	Het
Otog	T	C	7: 45,901,480 (GRCm39)	L393P	probably damaging	Het
Plcl1	A	G	1: 55,736,627 (GRCm39)	N656S	probably damaging	Het
Pole3	C	A	4: 62,443,060 (GRCm39)	V27F	probably damaging	Het
Prrt4	T	A	6: 29,177,140 (GRCm39)	I210F	probably damaging	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Rbpms	A	T	8: 34,354,387 (GRCm39)	S53T	possibly damaging	Het
Rgs7	C	A	1: 174,949,296 (GRCm39)	V203L	probably benign	Het
Riok1	A	T	13: 38,229,263 (GRCm39)	D150V	probably damaging	Het
Rrp1b	T	C	17: 32,274,900 (GRCm39)	L335P	probably benign	Het
Rsph6a	T	G	7: 18,801,962 (GRCm39)	I592S	possibly damaging	Het
Skor1	C	T	9: 63,052,661 (GRCm39)	G436D	probably damaging	Het
Slc17a8	T	C	10: 89,433,319 (GRCm39)	T51A	possibly damaging	Het
Slc22a8	T	C	19: 8,585,248 (GRCm39)	S266P	probably damaging	Het
Socs2	A	G	10: 95,250,845 (GRCm39)		probably benign	Het
Tas2r106	A	G	6: 131,655,668 (GRCm39)	I61T	possibly damaging	Het
Tfap2a	T	C	13: 40,882,051 (GRCm39)	N77D	probably damaging	Het
Tmem236	T	A	2: 14,197,076 (GRCm39)	L88Q	probably damaging	Het
Ttc41	A	G	10: 86,595,088 (GRCm39)	E954G	probably damaging	Het
Vmn1r34	G	T	6: 66,613,994 (GRCm39)	S248*	probably null	Het
Wipf1	T	C	2: 73,262,789 (GRCm39)	R483G	probably damaging	Het
Zfhx4	A	G	3: 5,476,946 (GRCm39)	N3187S	probably benign	Het
Zfp202	C	A	9: 40,121,829 (GRCm39)	P309T	probably benign	Het
Zfp39	T	C	11: 58,781,469 (GRCm39)	H431R	probably damaging	Het
Zfp658	T	A	7: 43,224,102 (GRCm39)	H792Q	probably benign	Het

Other mutations in Gdap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02424:Gdap1	APN	1	17,231,402 (GRCm39)	missense	probably damaging	1.00
IGL02570:Gdap1	APN	1	17,215,709 (GRCm39)	missense	probably benign	0.27
IGL03269:Gdap1	APN	1	17,231,729 (GRCm39)	missense	probably benign	0.00
R0992:Gdap1	UTSW	1	17,217,329 (GRCm39)	missense	probably damaging	1.00
R1480:Gdap1	UTSW	1	17,215,781 (GRCm39)	missense	probably damaging	1.00
R1518:Gdap1	UTSW	1	17,217,169 (GRCm39)	missense	possibly damaging	0.54
R2061:Gdap1	UTSW	1	17,215,689 (GRCm39)	unclassified	probably benign
R3983:Gdap1	UTSW	1	17,230,131 (GRCm39)	intron	probably benign
R4892:Gdap1	UTSW	1	17,230,218 (GRCm39)	missense	possibly damaging	0.61
R5765:Gdap1	UTSW	1	17,231,650 (GRCm39)	missense	probably benign
R6471:Gdap1	UTSW	1	17,230,249 (GRCm39)	missense	possibly damaging	0.50
R7574:Gdap1	UTSW	1	17,231,665 (GRCm39)	missense	possibly damaging	0.59
R7895:Gdap1	UTSW	1	17,231,368 (GRCm39)	missense	probably damaging	1.00
R7937:Gdap1	UTSW	1	17,230,177 (GRCm39)	missense	probably benign	0.15
R9335:Gdap1	UTSW	1	17,231,389 (GRCm39)	missense	probably benign	0.05
R9378:Gdap1	UTSW	1	17,227,353 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCACATTGCATCGGCTGAAG -3'
(R):5'- AAATCTTCACTGGGTCTGGAC -3'

Sequencing Primer
(F):5'- CATTGCATCGGCTGAAGTTCCTG -3'
(R):5'- AATCTTCACTGGGTCTGGACAAGTG -3'

Posted On

2019-11-12