Mutagenetix > Incidental Mutations

Incidental Mutation 'F5770:Gdap1l1'

271552

Institutional Source

Beutler Lab

Gene Symbol

Gdap1l1

Ensembl Gene

ENSMUSG00000017943

Gene Name

ganglioside-induced differentiation-associated protein 1-like 1

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.271) question?

Stock #

F5770 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

163438476-163455324 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 163447486 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119421 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000018087

SMART Domains

Protein: ENSMUSP00000018087
Gene: ENSMUSG00000017943

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

SMART Domains

Protein: ENSMUSP00000105047
Gene: ENSMUSG00000017943

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

SMART Domains

Protein: ENSMUSP00000105048
Gene: ENSMUSG00000017943

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 benign
Transcript: ENSMUST00000137070

SMART Domains

Protein: ENSMUSP00000119421
Gene: ENSMUSG00000017943

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: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (96/97)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	A	T	4: 122,701,257	H102L	possibly damaging	Het
Abcb5	T	A	12: 118,886,179	M950L	probably benign	Het
AC139131.1	T	G	7: 12,481,196		probably benign	Het
Ahcy	G	A	2: 155,064,921	R151*	probably null	Het
Arhgef38	T	G	3: 133,149,540	H262P	probably damaging	Het
Atp6v1h	A	G	1: 5,124,443	T282A	possibly damaging	Het
Camk2g	T	C	14: 20,739,312		probably benign	Het
Casp8ap2	C	T	4: 32,639,944	H333Y	probably benign	Het
Cd36	ACTGTCTGT	ACTGT	5: 17,820,528		probably null	Het
Cdc42bpb	C	T	12: 111,296,391	G1501S	probably benign	Het
Cfi	T	A	3: 129,854,992	I175K	possibly damaging	Het
Clasp1	G	A	1: 118,581,348	R1027Q	probably damaging	Het
D630003M21Rik	T	C	2: 158,201,011	T870A	probably benign	Het
Dcaf4	C	A	12: 83,537,701		probably null	Het
Dnah12	T	A	14: 26,773,093	N1369K	possibly damaging	Het
Dnajc22	T	A	15: 99,101,482	Y183N	probably damaging	Het
Dpyd	C	T	3: 118,897,126	Q295*	probably null	Het
Erv3	T	C	2: 131,855,926	H171R	possibly damaging	Het
Fam221b	T	C	4: 43,665,865	T249A	probably benign	Het
Fbrsl1	C	T	5: 110,379,426	A129T	possibly damaging	Het
Fcgr1	T	C	3: 96,284,276	*405W	probably null	Het
Glrx3	A	G	7: 137,459,153	H172R	probably benign	Het
Gm10770	T	A	2: 150,179,484	K38*	probably null	Het
Gm20517	G	A	17: 47,618,832	V65M	probably damaging	Het
Gm4787	G	A	12: 81,377,567	Q606*	probably null	Het
Golga4	A	G	9: 118,556,075	E727G	possibly damaging	Het
Got1	T	A	19: 43,500,561		probably benign	Het
Heatr5a	A	G	12: 51,881,278		probably benign	Het
Hira	G	A	16: 18,894,821	A29T	probably damaging	Het
Hnrnpab	A	T	11: 51,602,624	N252K	probably benign	Het
Ing1	T	C	8: 11,561,934	V124A	probably damaging	Het
Izumo4	A	T	10: 80,703,891	T155S	probably benign	Het
Kcnb2	A	G	1: 15,710,091	I396V	probably benign	Het
Klc1	A	T	12: 111,774,572	I161F	probably benign	Het
Lpar5	C	A	6: 125,081,727	A137E	possibly damaging	Het
Lrp4	C	T	2: 91,488,518	S900L	possibly damaging	Het
Lrrc37a	T	G	11: 103,455,512	N3176T	possibly damaging	Het
Mbd5	A	G	2: 49,316,410	D1713G	probably damaging	Het
Mctp2	T	A	7: 72,121,751		probably benign	Het
Muc6	T	G	7: 141,647,613	E808A	probably benign	Het
Mylk	G	T	16: 34,995,204		probably null	Het
Myrfl	T	C	10: 116,861,530	T30A	probably damaging	Het
Nbeal2	A	G	9: 110,637,937	V670A	possibly damaging	Het
Nphp3	T	C	9: 104,035,894		probably null	Het
Numbl	T	C	7: 27,279,602	S379P	probably benign	Het
Olfr1406	G	T	1: 173,183,964	L157I	probably benign	Het
Olfr1440	G	A	19: 12,394,550	V96I	probably benign	Het
Olfr480	G	T	7: 108,066,678	T40K	probably benign	Het
Otop3	T	A	11: 115,344,838	L432Q	probably damaging	Het
Papln	C	T	12: 83,778,834	R608C	possibly damaging	Het
Pelp1	T	A	11: 70,398,150	T257S	probably damaging	Het
Pigx	T	C	16: 32,087,422	D129G	probably damaging	Het
Pik3cd	A	C	4: 149,657,319	L390R	probably damaging	Het
Plekhb1	T	C	7: 100,654,618	T112A	probably benign	Het
Ppwd1	A	G	13: 104,220,237	Y257H	probably damaging	Het
Prkcb	G	T	7: 122,528,476	W274C	probably damaging	Het
Rabep1	T	C	11: 70,937,516		probably benign	Het
Ralgapa1	G	A	12: 55,795,653		probably benign	Het
Rasa1	A	G	13: 85,226,945		probably null	Het
Rbbp8nl	T	A	2: 180,278,208	T558S	probably benign	Het
Recql4	T	C	15: 76,706,169	D705G	possibly damaging	Het
Ror1	A	G	4: 100,440,933	Q501R	probably damaging	Het
Rundc3b	TGCCGCCGCCGCCGCCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCGCCGC	5: 8,622,549		probably benign	Het
Sirpb1b	A	G	3: 15,503,183	V366A	probably benign	Het
Slc30a4	T	A	2: 122,689,538	M136L	probably benign	Het
Slc5a6	C	T	5: 31,042,613		probably null	Het
Spaca1	T	C	4: 34,039,311	E192G	probably damaging	Het
Spata31	C	A	13: 64,921,648	P537T	probably benign	Het
Sptbn2	C	T	19: 4,750,632	R2292C	probably damaging	Het
Thbd	A	T	2: 148,407,190	Y253N	probably benign	Het
Tiam1	C	T	16: 89,865,271	R653H	probably damaging	Het
Tmc3	T	C	7: 83,622,505	V955A	probably benign	Het
Tnrc6c	G	A	11: 117,723,326	R770H	probably damaging	Het
Toe1	A	T	4: 116,806,111	N56K	probably damaging	Het
Tprkb	A	G	6: 85,928,782	K150E	probably damaging	Het
Trps1	T	C	15: 50,831,577	K150E	probably damaging	Het
Tspyl3	A	G	2: 153,225,060	V86A	probably benign	Het
Ttc23	T	C	7: 67,709,315		probably benign	Het
Ttc36	A	T	9: 44,801,797		probably benign	Het
Tubb3	C	T	8: 123,411,675		probably benign	Het
Vmn2r68	C	T	7: 85,221,880	V732I	probably benign	Het
Vps18	A	G	2: 119,297,228	Y844C	probably benign	Het
Wdr60	A	C	12: 116,211,840	S906A	possibly damaging	Het
Wdr72	T	A	9: 74,157,270	I528N	probably damaging	Het
Zfp292	C	T	4: 34,806,783	C2087Y	possibly damaging	Het
Zfp933	G	A	4: 147,826,470	A223V	probably damaging	Het
Zmynd8	G	A	2: 165,812,394	R724*	probably null	Het

Other mutations in Gdap1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02119:Gdap1l1	APN	2	163453668	missense	probably damaging	1.00
IGL02171:Gdap1l1	APN	2	163447550	missense	possibly damaging	0.78
IGL02335:Gdap1l1	APN	2	163447595	missense	possibly damaging	0.50
R0091:Gdap1l1	UTSW	2	163446091	missense	probably damaging	1.00
R0165:Gdap1l1	UTSW	2	163451499	critical splice acceptor site	probably null
R0242:Gdap1l1	UTSW	2	163447653	nonsense	probably null
R1577:Gdap1l1	UTSW	2	163438604	missense	probably damaging	0.96
R2022:Gdap1l1	UTSW	2	163447597	missense	probably benign	0.04
R4960:Gdap1l1	UTSW	2	163453859	missense	probably benign	0.00
R6027:Gdap1l1	UTSW	2	163451611	missense	possibly damaging	0.57
R6292:Gdap1l1	UTSW	2	163451507	missense	probably damaging	1.00
R6678:Gdap1l1	UTSW	2	163438654	missense	probably benign
R7034:Gdap1l1	UTSW	2	163446145	missense	probably damaging	1.00
R7173:Gdap1l1	UTSW	2	163438688	missense	probably damaging	0.99
R7195:Gdap1l1	UTSW	2	163446130	missense	probably damaging	1.00
Z1176:Gdap1l1	UTSW	2	163447670	missense

Predicted Primers

Posted On

2015-03-23