Mutagenetix > Incidental Mutation

Incidental Mutation 'R1577:Gdap1l1'

171202

Institutional Source

Beutler Lab

Gene Symbol

Gdap1l1

Ensembl Gene

ENSMUSG00000017943

Gene Name

ganglioside-induced differentiation-associated protein 1-like 1

Synonyms

MMRRC Submission

039615-MU

Accession Numbers

Essential gene?

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

Stock #

R1577 (G1)

Quality Score

172

Status

Not validated

Chromosome

Chromosomal Location

163280396-163297244 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 163280524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 20 (L20R)

Ref Sequence

ENSEMBL: ENSMUSP00000119421 (fasta)

Gene Model

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

AlphaFold

Q8VE33

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018087
AA Change: L20R

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000018087
Gene: ENSMUSG00000017943
AA Change: L20R

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

possibly damaging
Transcript: ENSMUST00000109420
AA Change: L20R

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105047
Gene: ENSMUSG00000017943
AA Change: L20R

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

possibly damaging
Transcript: ENSMUST00000109421
AA Change: L20R

PolyPhen 2 Score 0.749 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105048
Gene: ENSMUSG00000017943
AA Change: L20R

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: L20R

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119421
Gene: ENSMUSG00000017943
AA Change: L20R

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: 98.9%
3x: 97.8%
10x: 94.6%
20x: 87.3%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	C	1: 25,133,264 (GRCm39)	N404S	possibly damaging	Het
Cep85	T	C	4: 133,879,599 (GRCm39)	E383G	probably damaging	Het
Chst4	A	T	8: 110,756,476 (GRCm39)	H379Q	probably benign	Het
Clca3b	A	T	3: 144,529,280 (GRCm39)	I798N	probably damaging	Het
Cldnd1	T	G	16: 58,553,016 (GRCm39)	L159R	possibly damaging	Het
Cntnap3	T	C	13: 64,906,104 (GRCm39)	E834G	probably damaging	Het
Col2a1	C	T	15: 97,877,083 (GRCm39)	R1065Q	probably damaging	Het
Dchs1	T	C	7: 105,415,162 (GRCm39)	D674G	probably damaging	Het
Dntt	A	G	19: 41,044,224 (GRCm39)	Y463C	probably damaging	Het
Egfr	A	G	11: 16,819,241 (GRCm39)	E257G	probably benign	Het
Eif4b	C	T	15: 101,998,336 (GRCm39)	R339*	probably null	Het
Fat1	C	T	8: 45,476,420 (GRCm39)	T1822M	probably benign	Het
Fgd3	T	C	13: 49,435,413 (GRCm39)	N282D	probably damaging	Het
Fmo4	T	C	1: 162,631,269 (GRCm39)	M233V	possibly damaging	Het
Gabbr2	T	A	4: 46,684,319 (GRCm39)	M652L	probably benign	Het
Gal3st2c	G	A	1: 93,934,650 (GRCm39)	V13M	probably damaging	Het
Gapvd1	C	T	2: 34,599,240 (GRCm39)	G686D	probably damaging	Het
Gm5800	A	T	14: 51,952,016 (GRCm39)	M82K	probably benign	Het
Grm6	T	A	11: 50,753,972 (GRCm39)	C759S	probably damaging	Het
Hs3st1	A	T	5: 39,772,393 (GRCm39)	D83E	probably benign	Het
Il12rb1	A	G	8: 71,263,250 (GRCm39)	D39G	probably damaging	Het
Ldhb	C	A	6: 142,438,324 (GRCm39)	K244N	possibly damaging	Het
Lypd6	C	T	2: 50,080,710 (GRCm39)	R133*	probably null	Het
Med13l	G	A	5: 118,859,457 (GRCm39)	G215S	probably damaging	Het
Ncoa1	T	C	12: 4,345,196 (GRCm39)	D606G	probably damaging	Het
Noc2l	C	T	4: 156,325,079 (GRCm39)	T151M	probably damaging	Het
Or10q3	T	C	19: 11,847,741 (GRCm39)	T280A	probably damaging	Het
Or2ag2	T	C	7: 106,485,217 (GRCm39)	K269R	probably benign	Het
Or2at4	T	C	7: 99,384,563 (GRCm39)	L71P	probably damaging	Het
Or2t26	T	A	11: 49,040,016 (GRCm39)	C311S	probably benign	Het
Or5aq1b	T	C	2: 86,901,741 (GRCm39)	T246A	probably benign	Het
Ppm1l	G	A	3: 69,460,403 (GRCm39)	G327R	probably damaging	Het
Rapgef5	C	T	12: 117,558,911 (GRCm39)	A282V	probably benign	Het
Rnf139	T	C	15: 58,771,367 (GRCm39)	V464A	probably damaging	Het
Rprd2	C	T	3: 95,672,047 (GRCm39)	E1119K	probably damaging	Het
Sipa1l2	G	A	8: 126,219,001 (GRCm39)	T112I	probably benign	Het
Skint6	T	C	4: 113,005,720 (GRCm39)	T363A	possibly damaging	Het
Slc22a16	G	T	10: 40,479,811 (GRCm39)	E607*	probably null	Het
Slc24a2	T	C	4: 86,909,648 (GRCm39)	Y690C	probably damaging	Het
Slc25a23	T	C	17: 57,354,306 (GRCm39)	S115G	probably benign	Het
Slc4a3	T	C	1: 75,527,535 (GRCm39)	L168P	probably damaging	Het
Spats2	T	A	15: 99,076,333 (GRCm39)	I137N	possibly damaging	Het
Stard4	A	T	18: 33,338,151 (GRCm39)	V133D	probably damaging	Het
Syn3	A	G	10: 86,284,728 (GRCm39)		probably null	Het
Tfpi	A	G	2: 84,263,447 (GRCm39)	I305T	probably damaging	Het
Tmtc1	T	A	6: 148,314,318 (GRCm39)		probably null	Het
Tpcn1	A	C	5: 120,682,485 (GRCm39)	W508G	probably damaging	Het
Ubr5	A	T	15: 38,030,974 (GRCm39)	N406K	possibly damaging	Het
Xrcc1	T	A	7: 24,265,052 (GRCm39)	L118*	probably null	Het
Zbtb5	T	C	4: 44,995,129 (GRCm39)	Y85C	probably damaging	Het
Zfand4	C	A	6: 116,306,373 (GRCm39)	Y735*	probably null	Het
Zfp180	G	T	7: 23,805,333 (GRCm39)	C584F	probably damaging	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
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
R7034:Gdap1l1	UTSW	2	163,288,065 (GRCm39)	missense	probably damaging	1.00
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'- CCTGCACCCAGTGAGTAATGACATC -3'
(R):5'- TGAAGAAGACCCCTGCTAGAACGAG -3'

Sequencing Primer
(F):5'- TGAGTAATGACATCGCGGG -3'
(R):5'- AAGGAGATGCTCCTGGCATTG -3'

Posted On

2014-04-13