Incidental Mutation 'R6678:Gdap1l1'
| ID |
527338 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gdap1l1
|
| Ensembl Gene |
ENSMUSG00000017943 |
| Gene Name |
ganglioside-induced differentiation-associated protein 1-like 1 |
| Synonyms |
|
| MMRRC Submission |
044797-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.237)
|
| Stock # |
R6678 (G1)
|
| Quality Score |
214.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
163280396-163297244 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 163280574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 37
(S37T)
|
| 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: S37T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000018087
Gene: ENSMUSG00000017943
AA Change: S37T
| 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: S37T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105047
Gene: ENSMUSG00000017943
AA Change: S37T
| 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: S37T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105048
Gene: ENSMUSG00000017943
AA Change: S37T
| 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
AA Change: S37T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000119421
Gene: ENSMUSG00000017943
AA Change: S37T
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
| Validation Efficiency |
97% (37/38) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
C |
1: 25,499,891 (GRCm39) |
N644S |
possibly damaging |
Het |
| Agl |
C |
A |
3: 116,546,969 (GRCm39) |
V1294F |
probably damaging |
Het |
| Ash2l |
A |
C |
8: 26,323,805 (GRCm39) |
W125G |
probably damaging |
Het |
| Dap |
C |
T |
15: 31,273,396 (GRCm39) |
T51M |
probably benign |
Het |
| Dnah12 |
G |
A |
14: 26,456,847 (GRCm39) |
R871H |
probably damaging |
Het |
| Filip1l |
T |
C |
16: 57,390,333 (GRCm39) |
I307T |
probably benign |
Het |
| Gm43302 |
G |
T |
5: 105,438,820 (GRCm39) |
Q23K |
probably benign |
Het |
| Golga2 |
T |
C |
2: 32,189,072 (GRCm39) |
V227A |
probably damaging |
Het |
| Gramd4 |
A |
T |
15: 85,975,704 (GRCm39) |
S74C |
probably damaging |
Het |
| Gramd4 |
G |
C |
15: 85,975,705 (GRCm39) |
S74T |
possibly damaging |
Het |
| Hsph1 |
A |
C |
5: 149,541,962 (GRCm39) |
S755A |
probably benign |
Het |
| Inppl1 |
A |
G |
7: 101,481,477 (GRCm39) |
V235A |
probably damaging |
Het |
| Kcnc1 |
A |
G |
7: 46,047,229 (GRCm39) |
H43R |
probably benign |
Het |
| Klhl41 |
T |
G |
2: 69,501,188 (GRCm39) |
S216R |
probably benign |
Het |
| Kmt2e |
A |
G |
5: 23,704,293 (GRCm39) |
E1162G |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,396,005 (GRCm39) |
H2422Y |
probably damaging |
Het |
| Ms4a13 |
T |
C |
19: 11,161,222 (GRCm39) |
I106V |
probably benign |
Het |
| Myo1f |
G |
A |
17: 33,794,819 (GRCm39) |
D20N |
probably damaging |
Het |
| Ndel1 |
T |
C |
11: 68,724,239 (GRCm39) |
T245A |
possibly damaging |
Het |
| Or5al1 |
A |
T |
2: 85,990,529 (GRCm39) |
F62I |
probably damaging |
Het |
| P2rx6 |
C |
A |
16: 17,388,820 (GRCm39) |
N360K |
probably benign |
Het |
| Pcdhgb5 |
C |
T |
18: 37,864,255 (GRCm39) |
L17F |
probably damaging |
Het |
| Plcl1 |
A |
G |
1: 55,734,935 (GRCm39) |
K92R |
probably benign |
Het |
| Prelp |
C |
T |
1: 133,842,513 (GRCm39) |
D211N |
probably benign |
Het |
| Rgl1 |
T |
C |
1: 152,400,475 (GRCm39) |
Y677C |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rreb1 |
G |
T |
13: 38,083,675 (GRCm39) |
D113Y |
probably damaging |
Het |
| Sf1 |
T |
A |
19: 6,424,543 (GRCm39) |
|
probably null |
Het |
| Sh3bp1 |
T |
C |
15: 78,792,714 (GRCm39) |
|
probably null |
Het |
| Shprh |
T |
A |
10: 11,042,289 (GRCm39) |
D757E |
probably benign |
Het |
| Slc6a1 |
A |
G |
6: 114,284,737 (GRCm39) |
K81R |
probably benign |
Het |
| Spata31e4 |
A |
G |
13: 50,855,946 (GRCm39) |
K528R |
probably benign |
Het |
| Ttc22 |
T |
A |
4: 106,480,242 (GRCm39) |
S165R |
probably benign |
Het |
| Vmn1r113 |
G |
A |
7: 20,521,903 (GRCm39) |
G232S |
probably benign |
Het |
| Vwa7 |
C |
A |
17: 35,238,776 (GRCm39) |
A288D |
probably damaging |
Het |
| Wdpcp |
A |
G |
11: 21,671,105 (GRCm39) |
I449V |
probably benign |
Het |
| Wdsub1 |
G |
A |
2: 59,692,975 (GRCm39) |
T313I |
probably benign |
Het |
| Zyg11a |
A |
G |
4: 108,046,878 (GRCm39) |
V532A |
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 |
|
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'- AAGAGGCCATGTGATGCTGG -3'
(R):5'- AACGAGGCCTAAGGAGATGCTC -3'
Sequencing Primer
(F):5'- ATGTGATGCTGGGCGCC -3'
(R):5'- CATTGGGGCAGGGCTCTG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation