Incidental Mutation 'R3805:Map7d1'
| ID |
274543 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map7d1
|
| Ensembl Gene |
ENSMUSG00000028849 |
| Gene Name |
MAP7 domain containing 1 |
| Synonyms |
Parcc1, Mtap7d1, Rprc1 |
| MMRRC Submission |
040762-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.787)
|
| Stock # |
R3805 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
126125960-126150112 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 126131084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061143]
[ENSMUST00000106132]
[ENSMUST00000122129]
|
| AlphaFold |
A2AJI0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000061143
|
| SMART Domains |
Protein: ENSMUSP00000054338
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 |
|
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 null
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 null
Transcript: ENSMUST00000122129
|
| SMART Domains |
Protein: ENSMUSP00000113250
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
|
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131579
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137382
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Aebp2 |
GCGGCC |
GCGGCCGGCC |
6: 140,589,675 (GRCm39) |
|
probably null |
Het |
| Ano5 |
T |
C |
7: 51,226,398 (GRCm39) |
F584L |
probably benign |
Het |
| Ap1b1 |
T |
A |
11: 4,983,225 (GRCm39) |
|
probably null |
Het |
| Bicd1 |
T |
A |
6: 149,420,489 (GRCm39) |
L780M |
probably damaging |
Het |
| Ccdc138 |
T |
C |
10: 58,397,819 (GRCm39) |
I553T |
possibly damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
| Ctu1 |
T |
C |
7: 43,326,097 (GRCm39) |
L252P |
probably damaging |
Het |
| Dhrs2 |
A |
T |
14: 55,472,205 (GRCm39) |
N32I |
probably benign |
Het |
| Dnah1 |
A |
T |
14: 31,016,720 (GRCm39) |
M1599K |
possibly damaging |
Het |
| Eri2 |
A |
T |
7: 119,385,231 (GRCm39) |
C423* |
probably null |
Het |
| Fam169a |
G |
A |
13: 97,234,192 (GRCm39) |
V155I |
probably benign |
Het |
| Get4 |
G |
T |
5: 139,238,286 (GRCm39) |
V23F |
probably damaging |
Het |
| Hdac3 |
A |
G |
18: 38,078,745 (GRCm39) |
|
probably null |
Het |
| Herc3 |
C |
A |
6: 58,893,835 (GRCm39) |
H970Q |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,034,548 (GRCm39) |
|
probably null |
Het |
| Ifit1 |
A |
G |
19: 34,625,556 (GRCm39) |
I231V |
probably damaging |
Het |
| Lingo4 |
A |
G |
3: 94,309,407 (GRCm39) |
D115G |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,891,130 (GRCm39) |
I346V |
probably benign |
Het |
| Morf4l1 |
A |
G |
9: 89,977,196 (GRCm39) |
S203P |
probably benign |
Het |
| Naaladl1 |
A |
G |
19: 6,164,895 (GRCm39) |
T628A |
probably benign |
Het |
| Nlrp9a |
T |
A |
7: 26,264,277 (GRCm39) |
C643* |
probably null |
Het |
| Or4ac1-ps1 |
A |
T |
2: 88,370,700 (GRCm39) |
|
noncoding transcript |
Het |
| Or4b1 |
T |
G |
2: 89,978,805 (GRCm39) |
|
probably benign |
Het |
| Oxtr |
T |
C |
6: 112,454,147 (GRCm39) |
K39R |
probably benign |
Het |
| Ppp4r4 |
T |
A |
12: 103,566,625 (GRCm39) |
M24K |
probably damaging |
Het |
| Ppp6r2 |
T |
C |
15: 89,149,842 (GRCm39) |
F256L |
probably benign |
Het |
| Robo4 |
A |
T |
9: 37,315,734 (GRCm39) |
D329V |
possibly damaging |
Het |
| Rsph10b |
G |
A |
5: 143,895,206 (GRCm39) |
|
probably null |
Het |
| Slc9b2 |
T |
C |
3: 135,030,349 (GRCm39) |
L222P |
probably damaging |
Het |
| Speer4a1 |
C |
T |
5: 26,240,082 (GRCm39) |
E223K |
possibly damaging |
Het |
| St18 |
T |
A |
1: 6,872,577 (GRCm39) |
L104H |
probably damaging |
Het |
| Tmem184c |
C |
A |
8: 78,323,504 (GRCm39) |
D453Y |
unknown |
Het |
| Trpv1 |
A |
T |
11: 73,143,879 (GRCm39) |
N237I |
probably damaging |
Het |
| Vmn2r77 |
T |
A |
7: 86,444,368 (GRCm39) |
L7* |
probably null |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGGTTAGGTTAGCAGAGCCCG -3'
(R):5'- GTTGCCTGTGTCTGCAAAAG -3'
Sequencing Primer
(F):5'- TTAGCTGTGGCCACTCACCG -3'
(R):5'- CCTGTGTCTGCAAAAGGAGCAC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation