Incidental Mutation 'IGL00924:Map7d1'
| ID |
27246 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Map7d1
|
| Ensembl Gene |
ENSMUSG00000028849 |
| Gene Name |
MAP7 domain containing 1 |
| Synonyms |
Parcc1, Mtap7d1, Rprc1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.803)
|
| Stock # |
IGL00924
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
126125960-126150112 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126132398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 258
(V258A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061143]
[ENSMUST00000106132]
[ENSMUST00000122129]
|
| AlphaFold |
A2AJI0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061143
AA Change: V258A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000054338
Gene: ENSMUSG00000028849
AA Change: V258A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
123 |
N/A |
INTRINSIC |
|
coiled coil region
|
163 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
343 |
N/A |
INTRINSIC |
|
coiled coil region
|
414 |
444 |
N/A |
INTRINSIC |
|
low complexity region
|
460 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
497 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
558 |
N/A |
INTRINSIC |
|
Pfam:MAP7
|
587 |
735 |
7.1e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106132
|
| SMART Domains |
Protein: ENSMUSP00000101738
Gene: ENSMUSG00000028849
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
123 |
N/A |
INTRINSIC |
|
coiled coil region
|
163 |
224 |
N/A |
INTRINSIC |
|
coiled coil region
|
342 |
372 |
N/A |
INTRINSIC |
|
low complexity region
|
388 |
399 |
N/A |
INTRINSIC |
|
low complexity region
|
408 |
425 |
N/A |
INTRINSIC |
|
low complexity region
|
461 |
486 |
N/A |
INTRINSIC |
|
Pfam:MAP7
|
510 |
668 |
1.4e-61 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122129
AA Change: V258A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113250
Gene: ENSMUSG00000028849
AA Change: V258A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
123 |
N/A |
INTRINSIC |
|
coiled coil region
|
163 |
224 |
N/A |
INTRINSIC |
|
coiled coil region
|
382 |
412 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
439 |
N/A |
INTRINSIC |
|
low complexity region
|
448 |
465 |
N/A |
INTRINSIC |
|
low complexity region
|
501 |
526 |
N/A |
INTRINSIC |
|
Pfam:MAP7
|
550 |
708 |
1.5e-61 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125981
|
| SMART Domains |
Protein: ENSMUSP00000120292
Gene: ENSMUSG00000028849
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
68 |
88 |
N/A |
INTRINSIC |
|
coiled coil region
|
158 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
225 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
278 |
303 |
N/A |
INTRINSIC |
|
Pfam:MAP7
|
332 |
480 |
1.5e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131579
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2 |
A |
G |
1: 59,255,021 (GRCm39) |
V112A |
probably benign |
Het |
| Atp1a4 |
T |
A |
1: 172,074,339 (GRCm39) |
I305F |
probably damaging |
Het |
| AW209491 |
A |
G |
13: 14,811,660 (GRCm39) |
N171S |
probably damaging |
Het |
| Bank1 |
G |
T |
3: 135,953,395 (GRCm39) |
A120E |
probably damaging |
Het |
| Bdp1 |
T |
A |
13: 100,234,087 (GRCm39) |
E206D |
possibly damaging |
Het |
| Brd1 |
T |
C |
15: 88,613,612 (GRCm39) |
K428E |
possibly damaging |
Het |
| Ccdc42 |
A |
G |
11: 68,485,447 (GRCm39) |
I191V |
probably benign |
Het |
| Coa7 |
G |
T |
4: 108,195,505 (GRCm39) |
G145C |
possibly damaging |
Het |
| Cpm |
T |
G |
10: 117,511,971 (GRCm39) |
I305S |
probably damaging |
Het |
| Cracd |
A |
G |
5: 77,006,833 (GRCm39) |
T1065A |
unknown |
Het |
| Dlc1 |
A |
T |
8: 37,405,368 (GRCm39) |
S140R |
probably benign |
Het |
| Dnajc14 |
A |
G |
10: 128,653,188 (GRCm39) |
T674A |
probably benign |
Het |
| Dnajc7 |
A |
G |
11: 100,475,111 (GRCm39) |
I437T |
possibly damaging |
Het |
| Entpd5 |
A |
T |
12: 84,433,828 (GRCm39) |
V147E |
probably damaging |
Het |
| Gpr139 |
A |
G |
7: 118,783,510 (GRCm39) |
C30R |
probably benign |
Het |
| Habp4 |
A |
G |
13: 64,321,885 (GRCm39) |
D174G |
probably damaging |
Het |
| Has3 |
T |
C |
8: 107,605,231 (GRCm39) |
F479S |
probably benign |
Het |
| Helb |
T |
A |
10: 119,946,889 (GRCm39) |
K141N |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Kdm1b |
G |
A |
13: 47,221,956 (GRCm39) |
R465H |
probably benign |
Het |
| Lrrc57 |
A |
T |
2: 120,436,532 (GRCm39) |
M86K |
possibly damaging |
Het |
| Mtcl2 |
T |
G |
2: 156,882,625 (GRCm39) |
M476L |
probably damaging |
Het |
| Mybbp1a |
T |
A |
11: 72,334,393 (GRCm39) |
F216Y |
probably damaging |
Het |
| Ncan |
T |
A |
8: 70,561,039 (GRCm39) |
M643L |
possibly damaging |
Het |
| Ngdn |
T |
C |
14: 55,260,626 (GRCm39) |
I278T |
probably damaging |
Het |
| Or4c104 |
T |
C |
2: 88,586,500 (GRCm39) |
D173G |
possibly damaging |
Het |
| Or9a4 |
C |
T |
6: 40,548,388 (GRCm39) |
R23C |
probably benign |
Het |
| P4hb |
G |
T |
11: 120,454,644 (GRCm39) |
Q245K |
probably benign |
Het |
| Pcx |
G |
A |
19: 4,670,965 (GRCm39) |
V1089I |
probably benign |
Het |
| Phc3 |
A |
T |
3: 30,990,624 (GRCm39) |
M498K |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,790,601 (GRCm39) |
L1025* |
probably null |
Het |
| Sdhaf2 |
G |
A |
19: 10,494,380 (GRCm39) |
P110S |
probably damaging |
Het |
| Slc22a20 |
T |
C |
19: 6,020,544 (GRCm39) |
K538E |
probably benign |
Het |
| Spag11b |
T |
A |
8: 19,192,656 (GRCm39) |
V78D |
probably damaging |
Het |
| Tgm3 |
T |
C |
2: 129,880,294 (GRCm39) |
C367R |
probably damaging |
Het |
| Unc5a |
G |
A |
13: 55,152,327 (GRCm39) |
E741K |
probably damaging |
Het |
| Vmn2r58 |
A |
T |
7: 41,486,891 (GRCm39) |
L668H |
probably damaging |
Het |
| Wdr62 |
G |
A |
7: 29,964,643 (GRCm39) |
T367I |
probably damaging |
Het |
| Wdr62 |
G |
A |
7: 29,942,231 (GRCm39) |
P603S |
probably damaging |
Het |
| Xab2 |
G |
A |
8: 3,661,723 (GRCm39) |
R577W |
probably damaging |
Het |
|
| Other mutations in Map7d1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02298:Map7d1
|
APN |
4 |
126,127,714 (GRCm39) |
missense |
unknown |
|
|
R0136:Map7d1
|
UTSW |
4 |
126,130,424 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0362:Map7d1
|
UTSW |
4 |
126,128,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1138:Map7d1
|
UTSW |
4 |
126,135,912 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1499:Map7d1
|
UTSW |
4 |
126,128,558 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1692:Map7d1
|
UTSW |
4 |
126,136,101 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3805:Map7d1
|
UTSW |
4 |
126,131,084 (GRCm39) |
splice site |
probably null |
|
|
R4369:Map7d1
|
UTSW |
4 |
126,128,866 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4814:Map7d1
|
UTSW |
4 |
126,128,114 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4893:Map7d1
|
UTSW |
4 |
126,127,015 (GRCm39) |
missense |
unknown |
|
|
R4898:Map7d1
|
UTSW |
4 |
126,127,018 (GRCm39) |
missense |
unknown |
|
|
R4911:Map7d1
|
UTSW |
4 |
126,130,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4949:Map7d1
|
UTSW |
4 |
126,128,846 (GRCm39) |
nonsense |
probably null |
|
|
R5189:Map7d1
|
UTSW |
4 |
126,136,097 (GRCm39) |
splice site |
probably null |
|
|
R6198:Map7d1
|
UTSW |
4 |
126,135,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6336:Map7d1
|
UTSW |
4 |
126,130,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6558:Map7d1
|
UTSW |
4 |
126,126,702 (GRCm39) |
missense |
unknown |
|
|
R6781:Map7d1
|
UTSW |
4 |
126,134,544 (GRCm39) |
frame shift |
probably null |
|
|
R7177:Map7d1
|
UTSW |
4 |
126,130,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7204:Map7d1
|
UTSW |
4 |
126,149,808 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7269:Map7d1
|
UTSW |
4 |
126,126,666 (GRCm39) |
missense |
unknown |
|
|
R7486:Map7d1
|
UTSW |
4 |
126,128,179 (GRCm39) |
missense |
unknown |
|
|
R7560:Map7d1
|
UTSW |
4 |
126,130,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8266:Map7d1
|
UTSW |
4 |
126,132,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8750:Map7d1
|
UTSW |
4 |
126,132,315 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8963:Map7d1
|
UTSW |
4 |
126,130,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9036:Map7d1
|
UTSW |
4 |
126,133,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9158:Map7d1
|
UTSW |
4 |
126,130,478 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9307:Map7d1
|
UTSW |
4 |
126,128,024 (GRCm39) |
missense |
unknown |
|
|
R9374:Map7d1
|
UTSW |
4 |
126,127,429 (GRCm39) |
missense |
unknown |
|
|
R9710:Map7d1
|
UTSW |
4 |
126,127,440 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1177:Map7d1
|
UTSW |
4 |
126,128,170 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation