Mutagenetix > Incidental Mutation

Incidental Mutation 'R6027:Gdap1l1'

480094

Institutional Source

Beutler Lab

Gene Symbol

Gdap1l1

Ensembl Gene

ENSMUSG00000017943

Gene Name

ganglioside-induced differentiation-associated protein 1-like 1

Synonyms

MMRRC Submission

044199-MU

Accession Numbers

Essential gene?

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

Stock #

R6027 (G1)

Quality Score

89.0077

Status

Validated

Chromosome

Chromosomal Location

163280396-163297244 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 163293531 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 194 (N194K)

Ref Sequence

ENSEMBL: ENSMUSP00000119421 (fasta)

Gene Model

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

AlphaFold

Q8VE33

Predicted Effect

probably benign
Transcript: ENSMUST00000018087
AA Change: N252K

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000018087
Gene: ENSMUSG00000017943
AA Change: N252K

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 benign
Transcript: ENSMUST00000109420
AA Change: N252K

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000105047
Gene: ENSMUSG00000017943
AA Change: N252K

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 benign
Transcript: ENSMUST00000109421
AA Change: N255K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000105048
Gene: ENSMUSG00000017943
AA Change: N255K

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

possibly damaging
Transcript: ENSMUST00000137070
AA Change: N194K

PolyPhen 2 Score 0.567 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119421
Gene: ENSMUSG00000017943
AA Change: N194K

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

0.1795

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.] 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: 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
Gan	A	G	8: 117,885,034 (GRCm39)	Y54C	probably 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 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
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'- TTAGGCAGAGCTCCTCCATC -3'
(R):5'- TTCACTCTGTGTATGGGAGACC -3'

Sequencing Primer
(F):5'- GGCAGAGCTCCTCCATCATCTC -3'
(R):5'- AGTACAGGGCGGGACTTGTC -3'

Posted On

2017-06-26