Mutagenetix > Incidental Mutation

Incidental Mutation 'R7034:Gdap1l1'

546505

Institutional Source

Beutler Lab

Gene Symbol

Gdap1l1

Ensembl Gene

ENSMUSG00000017943

Gene Name

ganglioside-induced differentiation-associated protein 1-like 1

Synonyms

MMRRC Submission

045135-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.257) question?

Stock #

R7034 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

163280396-163297244 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 163288065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 98 (V98F)

Ref Sequence

ENSEMBL: ENSMUSP00000119421 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018087] [ENSMUST00000109420] [ENSMUST00000109421] [ENSMUST00000137070]

AlphaFold

Q8VE33

Predicted Effect

probably damaging
Transcript: ENSMUST00000018087
AA Change: V98F

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

SMART Domains

Protein: ENSMUSP00000018087
Gene: ENSMUSG00000017943
AA Change: V98F

Domain	Start	End	E-Value	Type
Pfam:GST_N	45	120	3.1e-8	PFAM
Pfam:GST_N_3	49	126	1.1e-13	PFAM
Pfam:GST_N_2	55	121	7.1e-10	PFAM
Pfam:GST_C_2	206	304	3.1e-8	PFAM
transmembrane domain	340	362	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109420
AA Change: V98F

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

SMART Domains

Protein: ENSMUSP00000105047
Gene: ENSMUSG00000017943
AA Change: V98F

Domain	Start	End	E-Value	Type
Pfam:GST_N	45	120	3.1e-8	PFAM
Pfam:GST_N_3	49	126	1.1e-13	PFAM
Pfam:GST_N_2	55	121	7.1e-10	PFAM
Pfam:GST_C_2	206	304	3.1e-8	PFAM
transmembrane domain	340	362	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109421
AA Change: V101F

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

SMART Domains

Protein: ENSMUSP00000105048
Gene: ENSMUSG00000017943
AA Change: V101F

Domain	Start	End	E-Value	Type
Pfam:GST_N	45	123	1.2e-8	PFAM
Pfam:GST_N_3	49	129	3.3e-10	PFAM
Pfam:GST_N_2	62	124	7.6e-9	PFAM
Pfam:GST_C_2	182	307	8.2e-9	PFAM
Pfam:GST_C	201	311	3.4e-8	PFAM
transmembrane domain	343	365	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000137070
AA Change: V98F

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

SMART Domains

Protein: ENSMUSP00000119421
Gene: ENSMUSG00000017943
AA Change: V98F

Domain	Start	End	E-Value	Type
Pfam:GST_N	45	120	2.3e-8	PFAM
Pfam:GST_N_3	49	126	1.6e-13	PFAM
Pfam:GST_N_2	55	121	1.1e-9	PFAM
Pfam:GST_C_2	142	246	3.1e-8	PFAM
Pfam:GST_C	146	251	1.6e-6	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The ganglioside GD3 synthase causes cell differentiation with neurite sprouting when transfected into the mouse neuroblastoma cell line Neuro2a. After differentiation, the expression of several genes is upregulated, including one that encodes a protein termed ganglioside-induced differentiation-associated protein 1 (Gdap1). A similar gene was found in humans, and mutations in the human gene are associated with Charcot-Marie-Tooth type 4A disease. The protein encoded by this gene is similar in sequence to the human GDAP1 protein. Several transcript variants encoding different isoforms, as well as a noncoding transcript variant, have been found for this gene. [provided by RefSeq, Feb 2012]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,445,118 (GRCm39)		probably null	Het
Adamts1	T	A	16: 85,599,634 (GRCm39)		probably benign	Het
Aff4	A	G	11: 53,299,236 (GRCm39)	K979E	probably damaging	Het
Aftph	A	T	11: 20,642,498 (GRCm39)	M845K	probably damaging	Het
Akt2	T	C	7: 27,336,437 (GRCm39)		probably null	Het
Aldh1a7	A	T	19: 20,685,542 (GRCm39)	L336Q	possibly damaging	Het
Ank3	C	T	10: 69,835,209 (GRCm39)	T680M	probably damaging	Het
Apeh	T	C	9: 107,971,470 (GRCm39)	E59G	possibly damaging	Het
Armc8	C	T	9: 99,366,018 (GRCm39)		probably null	Het
Armh3	A	G	19: 45,953,688 (GRCm39)	I195T	probably damaging	Het
Atp2b1	C	T	10: 98,823,172 (GRCm39)	T244I	probably damaging	Het
Btaf1	C	A	19: 36,981,869 (GRCm39)	T1633K	probably benign	Het
Cacng8	A	G	7: 3,463,819 (GRCm39)	S324G	probably benign	Het
Calcr	T	A	6: 3,692,543 (GRCm39)	Q400L	probably damaging	Het
Caprin2	G	A	6: 148,749,703 (GRCm39)	P536S	possibly damaging	Het
Ccdc54	A	T	16: 50,410,951 (GRCm39)	M105K	probably benign	Het
Ccna1	T	C	3: 54,953,460 (GRCm39)	E381G	possibly damaging	Het
Cd2ap	A	T	17: 43,109,490 (GRCm39)	L623Q	probably damaging	Het
Cdkl3	A	G	11: 51,918,042 (GRCm39)	E415G	probably benign	Het
Chd5	C	A	4: 152,445,398 (GRCm39)	L430I	possibly damaging	Het
Clspn	G	A	4: 126,474,775 (GRCm39)	E975K	possibly damaging	Het
Cobl	C	A	11: 12,204,177 (GRCm39)	V835F	probably damaging	Het
D430041D05Rik	C	A	2: 104,022,883 (GRCm39)	R1037L	probably damaging	Het
Derl1	A	G	15: 57,742,443 (GRCm39)		probably null	Het
Dhrs9	T	G	2: 69,223,520 (GRCm39)	N89K	probably benign	Het
Erich1	A	G	8: 14,114,330 (GRCm39)	I60T	probably benign	Het
Fam184a	A	T	10: 53,570,910 (GRCm39)	S408T	possibly damaging	Het
Fcgr4	T	A	1: 170,847,657 (GRCm39)	M85K	probably benign	Het
Foxj3	A	G	4: 119,476,497 (GRCm39)	E259G	probably damaging	Het
Galnt11	T	C	5: 25,463,811 (GRCm39)	I361T	probably damaging	Het
Gck	A	G	11: 5,851,747 (GRCm39)	S441P	probably damaging	Het
Gramd1a	A	G	7: 30,832,181 (GRCm39)		probably null	Het
H2ac21	C	T	3: 96,127,304 (GRCm39)	Q25*	probably null	Het
Herc3	A	T	6: 58,853,840 (GRCm39)	M629L	probably benign	Het
Hoxc12	G	A	15: 102,846,795 (GRCm39)	G229D	probably damaging	Het
Hycc2	T	A	1: 58,574,696 (GRCm39)	M282L	probably benign	Het
Itga9	T	C	9: 118,527,433 (GRCm39)	L528P	probably benign	Het
Krt39	A	C	11: 99,412,062 (GRCm39)	V8G	probably benign	Het
Krt71	A	G	15: 101,646,772 (GRCm39)	I312T	probably benign	Het
Lrrc37	T	A	11: 103,506,638 (GRCm39)		probably benign	Het
Mllt11	A	G	3: 95,127,744 (GRCm39)	Y9H	probably damaging	Het
Mrgpra3	G	T	7: 47,239,838 (GRCm39)	N29K	possibly damaging	Het
Mug1	A	G	6: 121,850,603 (GRCm39)	T700A	probably benign	Het
Myl1	T	C	1: 66,969,395 (GRCm39)	N79S	probably damaging	Het
Myo18b	G	A	5: 112,871,770 (GRCm39)	Q2104*	probably null	Het
Nalf1	G	A	8: 9,820,589 (GRCm39)	P144S	possibly damaging	Het
Ndufs2	T	C	1: 171,065,877 (GRCm39)	D256G	probably benign	Het
Nek5	T	C	8: 22,597,739 (GRCm39)	N280S	probably benign	Het
Nwd2	A	T	5: 63,962,258 (GRCm39)	N614I	probably damaging	Het
Or6c88	G	A	10: 129,406,941 (GRCm39)	C139Y	possibly damaging	Het
Parp1	G	T	1: 180,425,817 (GRCm39)	K849N	possibly damaging	Het
Pcnx2	T	C	8: 126,512,041 (GRCm39)	T1422A	probably damaging	Het
Plce1	A	G	19: 38,727,801 (GRCm39)	N1520S	probably damaging	Het
Ppcdc	T	C	9: 57,322,453 (GRCm39)	T149A	probably damaging	Het
Ppl	A	G	16: 4,905,366 (GRCm39)	V1643A	probably benign	Het
Pramel23	A	T	4: 143,423,898 (GRCm39)	I297N	probably damaging	Het
Prrx1	T	A	1: 163,075,907 (GRCm39)	M220L	probably benign	Het
Pspc1	A	C	14: 56,996,085 (GRCm39)		probably null	Het
Ptpn20	A	G	14: 33,336,392 (GRCm39)	*44W	probably null	Het
Qars1	T	A	9: 108,391,976 (GRCm39)	V83E	probably damaging	Het
Rbm33	T	C	5: 28,599,496 (GRCm39)	M956T	unknown	Het
Sash1	C	A	10: 8,605,847 (GRCm39)	E848*	probably null	Het
Scai	T	A	2: 39,011,147 (GRCm39)	Y163F	probably damaging	Het
Serpinf2	A	T	11: 75,329,244 (GRCm39)		probably benign	Het
Sgo2b	T	A	8: 64,379,868 (GRCm39)	H988L	probably benign	Het
Sh2b2	G	A	5: 136,247,739 (GRCm39)	T604I	probably benign	Het
Skint4	A	T	4: 112,015,281 (GRCm39)	I449F	possibly damaging	Het
Slc30a2	A	G	4: 134,074,653 (GRCm39)	I88V	possibly damaging	Het
Smug1	A	G	15: 103,064,369 (GRCm39)	L184P	probably damaging	Het
Spatc1	A	G	15: 76,168,080 (GRCm39)	T180A	probably benign	Het
Ssr1	A	T	13: 38,178,001 (GRCm39)	L20Q	probably null	Het
Supt4a	A	G	11: 87,634,084 (GRCm39)	E100G	probably damaging	Het
Teddm2	T	C	1: 153,726,320 (GRCm39)	I132V	probably benign	Het
Tmem131	C	T	1: 36,832,054 (GRCm39)	G1861E	possibly damaging	Het
Tpr	A	T	1: 150,299,358 (GRCm39)	H1186L	probably benign	Het
Trim34b	A	T	7: 103,978,743 (GRCm39)		probably benign	Het
Trpm2	T	C	10: 77,748,426 (GRCm39)	M1415V	probably benign	Het
Ttll12	A	G	15: 83,471,086 (GRCm39)	F264S	probably benign	Het
Vmn2r59	T	C	7: 41,695,644 (GRCm39)	E256G	probably benign	Het
Vmn2r93	A	T	17: 18,546,672 (GRCm39)	H848L	probably benign	Het
Vps35l	T	C	7: 118,372,315 (GRCm39)	S290P	probably damaging	Het
Wdfy3	G	A	5: 102,055,384 (GRCm39)	T1562I	probably damaging	Het
Ybey	T	C	10: 76,304,197 (GRCm39)	S2G	possibly damaging	Het
Zfp346	A	T	13: 55,280,200 (GRCm39)	Q308L	probably benign	Het

Other mutations in Gdap1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02119:Gdap1l1	APN	2	163,295,588 (GRCm39)	missense	probably damaging	1.00
IGL02171:Gdap1l1	APN	2	163,289,470 (GRCm39)	missense	possibly damaging	0.78
IGL02335:Gdap1l1	APN	2	163,289,515 (GRCm39)	missense	possibly damaging	0.50
F5770:Gdap1l1	UTSW	2	163,289,406 (GRCm39)	intron	probably benign
R0091:Gdap1l1	UTSW	2	163,288,011 (GRCm39)	missense	probably damaging	1.00
R0165:Gdap1l1	UTSW	2	163,293,419 (GRCm39)	critical splice acceptor site	probably null
R0242:Gdap1l1	UTSW	2	163,289,573 (GRCm39)	nonsense	probably null
R1577:Gdap1l1	UTSW	2	163,280,524 (GRCm39)	missense	probably damaging	0.96
R2022:Gdap1l1	UTSW	2	163,289,517 (GRCm39)	missense	probably benign	0.04
R4960:Gdap1l1	UTSW	2	163,295,779 (GRCm39)	missense	probably benign	0.00
R6027:Gdap1l1	UTSW	2	163,293,531 (GRCm39)	missense	possibly damaging	0.57
R6292:Gdap1l1	UTSW	2	163,293,427 (GRCm39)	missense	probably damaging	1.00
R6678:Gdap1l1	UTSW	2	163,280,574 (GRCm39)	missense	probably benign
R7173:Gdap1l1	UTSW	2	163,280,608 (GRCm39)	missense	probably damaging	0.99
R7195:Gdap1l1	UTSW	2	163,288,050 (GRCm39)	missense	probably damaging	1.00
R9085:Gdap1l1	UTSW	2	163,280,508 (GRCm39)	missense	probably damaging	0.99
R9331:Gdap1l1	UTSW	2	163,295,664 (GRCm39)	missense	probably benign	0.00
Z1176:Gdap1l1	UTSW	2	163,289,590 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CAAGCAAGTGTCCCCTCTTG -3'
(R):5'- AGCCCTCACAGTAGCATCTG -3'

Sequencing Primer
(F):5'- AAGTGTCCCCTCTTGTGTGTGAC -3'
(R):5'- CACAGTAGCATCTGGTTTCTTTTG -3'

Posted On

2019-05-13