Incidental Mutation 'R5189:Map7d1'
| ID |
405050 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map7d1
|
| Ensembl Gene |
ENSMUSG00000028849 |
| Gene Name |
MAP7 domain containing 1 |
| Synonyms |
Parcc1, Mtap7d1, Rprc1 |
| MMRRC Submission |
042767-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.787)
|
| Stock # |
R5189 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
126125960-126150112 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 126136097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061143]
[ENSMUST00000106132]
[ENSMUST00000122129]
|
| AlphaFold |
A2AJI0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061143
AA Change: P37Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000054338
Gene: ENSMUSG00000028849
AA Change: P37Q
| 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 damaging
Transcript: ENSMUST00000106132
AA Change: P37Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101738
Gene: ENSMUSG00000028849
AA Change: P37Q
| 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: P37Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113250
Gene: ENSMUSG00000028849
AA Change: P37Q
| 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 null
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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
C |
T |
12: 71,240,123 (GRCm39) |
T1311I |
possibly damaging |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 4930505A04Rik |
T |
C |
11: 30,376,169 (GRCm39) |
T233A |
probably damaging |
Het |
| Ankar |
T |
C |
1: 72,697,573 (GRCm39) |
I859V |
probably benign |
Het |
| Cacnb2 |
G |
T |
2: 14,990,849 (GRCm39) |
A644S |
possibly damaging |
Het |
| Gatb |
T |
C |
3: 85,544,238 (GRCm39) |
V402A |
probably benign |
Het |
| Gpcpd1 |
T |
C |
2: 132,395,892 (GRCm39) |
K153R |
probably damaging |
Het |
| Hip1 |
A |
G |
5: 135,463,147 (GRCm39) |
L60S |
probably damaging |
Het |
| Hsf4 |
GCAGCACCGGGTCA |
G |
8: 105,998,060 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
T |
8: 111,139,843 (GRCm39) |
|
probably null |
Het |
| Igsf3 |
A |
T |
3: 101,338,843 (GRCm39) |
T386S |
possibly damaging |
Het |
| Il12rb1 |
A |
G |
8: 71,263,702 (GRCm39) |
T88A |
possibly damaging |
Het |
| Kank1 |
T |
C |
19: 25,401,545 (GRCm39) |
S1051P |
probably damaging |
Het |
| Kap |
A |
G |
6: 133,828,879 (GRCm39) |
|
probably null |
Het |
| Ly96 |
A |
G |
1: 16,771,091 (GRCm39) |
E74G |
probably damaging |
Het |
| Megf6 |
G |
T |
4: 154,336,980 (GRCm39) |
R253L |
probably benign |
Het |
| Mex3b |
A |
G |
7: 82,518,459 (GRCm39) |
D258G |
probably damaging |
Het |
| Mpzl3 |
T |
C |
9: 44,973,408 (GRCm39) |
I49T |
possibly damaging |
Het |
| Myh15 |
C |
A |
16: 48,921,870 (GRCm39) |
T472N |
probably benign |
Het |
| Nacad |
A |
G |
11: 6,551,611 (GRCm39) |
S527P |
probably damaging |
Het |
| Nkx2-3 |
T |
G |
19: 43,601,147 (GRCm39) |
S70A |
probably benign |
Het |
| Nkx2-6 |
A |
T |
14: 69,409,342 (GRCm39) |
Q31L |
probably benign |
Het |
| Or6ae1 |
A |
G |
7: 139,742,632 (GRCm39) |
V77A |
probably damaging |
Het |
| Pcdha6 |
A |
T |
18: 37,101,844 (GRCm39) |
N346Y |
probably damaging |
Het |
| Pkd2 |
G |
A |
5: 104,607,785 (GRCm39) |
D95N |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,410,544 (GRCm39) |
T2684A |
probably damaging |
Het |
| Plin2 |
A |
G |
4: 86,575,383 (GRCm39) |
Y389H |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc41a2 |
T |
C |
10: 83,149,275 (GRCm39) |
|
probably null |
Het |
| Smg6 |
A |
G |
11: 74,932,822 (GRCm39) |
T1038A |
probably damaging |
Het |
| Suds3 |
T |
C |
5: 117,238,664 (GRCm39) |
|
probably benign |
Het |
| Tbc1d8 |
T |
C |
1: 39,424,213 (GRCm39) |
H626R |
probably benign |
Het |
| Tmem260 |
T |
A |
14: 48,746,573 (GRCm39) |
H616Q |
probably benign |
Het |
| Trip10 |
A |
T |
17: 57,568,288 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,137,960 (GRCm39) |
T1106A |
probably benign |
Het |
| Vmn1r84 |
A |
T |
7: 12,096,385 (GRCm39) |
S103T |
probably benign |
Het |
| Vps13a |
G |
T |
19: 16,662,679 (GRCm39) |
P1602Q |
probably damaging |
Het |
|
| Other mutations in Map7d1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00924:Map7d1
|
APN |
4 |
126,132,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTCTTGGCTTCTGAGGAC -3'
(R):5'- CATGTCAGCTGAGCTATGCTGTATG -3'
Sequencing Primer
(F):5'- TCTGAGGACGGGCATTCTTCC -3'
(R):5'- TATATGAGGCCTGGCACATG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation