Mutagenetix > Incidental Mutation

Incidental Mutation 'R0091:Gdap1l1'

20191

Institutional Source

Beutler Lab

Gene Symbol

Gdap1l1

Ensembl Gene

ENSMUSG00000017943

Gene Name

ganglioside-induced differentiation-associated protein 1-like 1

Synonyms

MMRRC Submission

038378-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.237) question?

Stock #

R0091 (G1)

Quality Score

110

Status

Validated (trace)

Chromosome

Chromosomal Location

163280396-163297244 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 163288011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 80 (P80S)

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: P80S

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

SMART Domains

Protein: ENSMUSP00000018087
Gene: ENSMUSG00000017943
AA Change: P80S

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: P80S

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

SMART Domains

Protein: ENSMUSP00000105047
Gene: ENSMUSG00000017943
AA Change: P80S

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: P83S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105048
Gene: ENSMUSG00000017943
AA Change: P83S

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: P80S

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

SMART Domains

Protein: ENSMUSP00000119421
Gene: ENSMUSG00000017943
AA Change: P80S

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

Meta Mutation Damage Score

0.1743

Coding Region Coverage

1x: 99.1%
3x: 97.9%
10x: 94.4%
20x: 84.5%

Validation Efficiency

98% (86/88)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,932,179 (GRCm39)	S278P	possibly damaging	Het
Adam11	A	G	11: 102,663,665 (GRCm39)	Y281C	probably damaging	Het
Adam6a	G	T	12: 113,507,849 (GRCm39)	R74L	possibly damaging	Het
Adcy5	T	C	16: 35,091,368 (GRCm39)		probably null	Het
Adrb2	A	G	18: 62,312,090 (GRCm39)	L245P	probably benign	Het
Aebp2	T	C	6: 140,589,800 (GRCm39)		probably null	Het
Arhgap23	A	G	11: 97,343,070 (GRCm39)	T240A	probably benign	Het
Atp10a	T	C	7: 58,423,794 (GRCm39)		probably benign	Het
Atp13a4	T	A	16: 29,274,213 (GRCm39)	Y416F	probably damaging	Het
Atp5mc2	A	C	15: 102,571,492 (GRCm39)	L133R	probably damaging	Het
Bicral	A	T	17: 47,136,233 (GRCm39)	Y326N	probably damaging	Het
Chst4	T	C	8: 110,757,297 (GRCm39)	S189G	probably damaging	Het
Cnot1	A	T	8: 96,489,772 (GRCm39)	I477N	probably damaging	Het
Col7a1	G	T	9: 108,796,574 (GRCm39)		probably benign	Het
Dchs1	A	G	7: 105,415,301 (GRCm39)		probably benign	Het
Dcn	A	G	10: 97,342,551 (GRCm39)	N169S	probably benign	Het
Dnajc6	T	C	4: 101,473,974 (GRCm39)		probably benign	Het
Egln3	A	G	12: 54,228,432 (GRCm39)	F225L	probably benign	Het
Erap1	G	A	13: 74,816,171 (GRCm39)	R100Q	possibly damaging	Het
Erc2	A	T	14: 27,498,781 (GRCm39)		probably null	Het
Fto	G	A	8: 92,168,435 (GRCm39)		probably null	Het
Gm1123	T	C	9: 98,905,405 (GRCm39)	E35G	possibly damaging	Het
Hhipl1	A	G	12: 108,288,156 (GRCm39)		probably benign	Het
Ift80	A	T	3: 68,822,008 (GRCm39)	L679Q	probably damaging	Het
Il18	A	G	9: 50,488,013 (GRCm39)		probably benign	Het
Inhbb	T	C	1: 119,345,125 (GRCm39)	Y388C	probably damaging	Het
Kmt2d	G	T	15: 98,742,360 (GRCm39)		probably benign	Het
Krt20	A	G	11: 99,328,640 (GRCm39)	V95A	probably damaging	Het
Lck	A	T	4: 129,449,474 (GRCm39)	S274R	possibly damaging	Het
Lrp1	T	A	10: 127,376,848 (GRCm39)	N4243I	probably damaging	Het
Lrrfip2	G	A	9: 111,043,311 (GRCm39)	V506I	probably damaging	Het
Ltbp2	A	G	12: 84,840,507 (GRCm39)	C1000R	probably damaging	Het
Matn3	G	A	12: 9,002,105 (GRCm39)	D106N	probably damaging	Het
Mical2	A	G	7: 111,980,503 (GRCm39)	E49G	probably benign	Het
Mmadhc	A	G	2: 50,182,869 (GRCm39)	S36P	probably damaging	Het
Morn1	T	C	4: 155,229,629 (GRCm39)	Y433H	probably damaging	Het
Mpo	A	G	11: 87,692,436 (GRCm39)	M525V	probably benign	Het
Myo5a	C	T	9: 75,068,774 (GRCm39)	R659C	probably damaging	Het
Obox6	T	C	7: 15,568,364 (GRCm39)	S171G	probably benign	Het
Or1j18	A	G	2: 36,624,917 (GRCm39)	N195D	probably damaging	Het
Or4k36	T	A	2: 111,146,518 (GRCm39)	D231E	probably benign	Het
Or5g29	A	T	2: 85,421,696 (GRCm39)	N271Y	probably benign	Het
P2ry14	A	G	3: 59,023,314 (GRCm39)	Y49H	probably benign	Het
Papss2	C	T	19: 32,611,302 (GRCm39)	T17I	possibly damaging	Het
Pcid2	T	C	8: 13,135,392 (GRCm39)	T206A	probably benign	Het
Pex6	A	G	17: 47,022,844 (GRCm39)	E140G	probably damaging	Het
Ppp1r3b	A	G	8: 35,851,821 (GRCm39)	Y220C	probably damaging	Het
Prdx2	T	G	8: 85,698,330 (GRCm39)		probably benign	Het
Ptbp2	A	T	3: 119,514,310 (GRCm39)	L471Q	probably damaging	Het
Rbm33	T	A	5: 28,557,604 (GRCm39)	D232E	possibly damaging	Het
Rnf214	T	A	9: 45,809,791 (GRCm39)		probably null	Het
Rora	G	A	9: 69,281,330 (GRCm39)	R314H	probably damaging	Het
Rufy4	T	C	1: 74,168,095 (GRCm39)		probably benign	Het
Sag	T	C	1: 87,742,402 (GRCm39)	V58A	probably damaging	Het
Serpina3i	C	T	12: 104,231,423 (GRCm39)	T20M	probably damaging	Het
Slc4a5	A	G	6: 83,254,537 (GRCm39)	N578S	probably benign	Het
Soat2	A	G	15: 102,066,574 (GRCm39)	Y285C	probably damaging	Het
Syk	A	G	13: 52,794,769 (GRCm39)	Y478C	probably damaging	Het
Syne4	G	A	7: 30,018,344 (GRCm39)	G362E	probably damaging	Het
Tas2r126	A	T	6: 42,412,036 (GRCm39)	M190L	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Ttc19	A	G	11: 62,199,910 (GRCm39)	D218G	probably damaging	Het
Tut1	T	C	19: 8,942,800 (GRCm39)	V629A	probably damaging	Het
Txndc11	T	C	16: 10,905,968 (GRCm39)	N521D	probably benign	Het
Ushbp1	T	C	8: 71,841,614 (GRCm39)	E405G	possibly damaging	Het
Usp46	C	T	5: 74,163,918 (GRCm39)	R246Q	probably benign	Het
Utrn	T	C	10: 12,610,948 (GRCm39)	D469G	probably damaging	Het
Vmn2r104	T	A	17: 20,262,075 (GRCm39)	I352F	possibly damaging	Het
Wdr4	G	A	17: 31,715,890 (GRCm39)	T398I	probably benign	Het
Ythdc1	T	A	5: 86,968,560 (GRCm39)		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
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
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'- GCATTCTTCTCCAATCCGAAAGCAC -3'
(R):5'- GGTCAATGGCTCGCTTAGGTTCAG -3'

Sequencing Primer
(F):5'- TGCAAGCAAGTGTCCCCTC -3'
(R):5'- GCTTAGGTTCAGCCCGTG -3'

Posted On

2013-04-11