Incidental Mutation 'R6336:Map7d1'
| ID |
510749 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map7d1
|
| Ensembl Gene |
ENSMUSG00000028849 |
| Gene Name |
MAP7 domain containing 1 |
| Synonyms |
Parcc1, Mtap7d1, Rprc1 |
| MMRRC Submission |
044490-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.803)
|
| Stock # |
R6336 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
126125960-126150112 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126130475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 412
(S412P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113250
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061143]
[ENSMUST00000106132]
[ENSMUST00000122129]
|
| AlphaFold |
A2AJI0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061143
AA Change: S444P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000054338
Gene: ENSMUSG00000028849
AA Change: S444P
| 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: S372P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101738
Gene: ENSMUSG00000028849
AA Change: S372P
| 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: S412P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113250
Gene: ENSMUSG00000028849
AA Change: S412P
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000120292
Gene: ENSMUSG00000028849
AA Change: S188P
| 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 |
0.0747 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
98% (45/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
G |
T |
5: 113,331,349 (GRCm39) |
P955Q |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,534,100 (GRCm39) |
N5827S |
probably benign |
Het |
| Akt3 |
T |
C |
1: 176,859,278 (GRCm39) |
D431G |
probably damaging |
Het |
| Anapc16 |
A |
T |
10: 59,824,651 (GRCm39) |
V76D |
possibly damaging |
Het |
| Ankib1 |
A |
T |
5: 3,750,377 (GRCm39) |
Y755* |
probably null |
Het |
| Ankrd6 |
A |
G |
4: 32,860,411 (GRCm39) |
S11P |
probably damaging |
Het |
| Card6 |
T |
A |
15: 5,128,646 (GRCm39) |
K917* |
probably null |
Het |
| Ccdc152 |
T |
C |
15: 3,330,611 (GRCm39) |
I21M |
probably damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,122,819 (GRCm39) |
E207G |
possibly damaging |
Het |
| Clca3a2 |
G |
T |
3: 144,512,239 (GRCm39) |
A499E |
probably benign |
Het |
| Cntnap5b |
C |
T |
1: 100,286,394 (GRCm39) |
A383V |
probably benign |
Het |
| Ddo |
T |
C |
10: 40,509,027 (GRCm39) |
V89A |
probably damaging |
Het |
| Depdc5 |
T |
C |
5: 33,121,851 (GRCm39) |
176 |
probably null |
Het |
| Dlgap1 |
T |
A |
17: 71,122,284 (GRCm39) |
D904E |
probably damaging |
Het |
| Ephb4 |
T |
A |
5: 137,370,347 (GRCm39) |
L849H |
probably damaging |
Het |
| Fbxl13 |
A |
G |
5: 21,728,545 (GRCm39) |
|
probably null |
Het |
| Fer1l6 |
C |
A |
15: 58,431,081 (GRCm39) |
Y245* |
probably null |
Het |
| Foxred2 |
A |
G |
15: 77,839,964 (GRCm39) |
Y109H |
probably damaging |
Het |
| Gabarapl1 |
A |
G |
6: 129,514,491 (GRCm39) |
D43G |
probably benign |
Het |
| Gabrb1 |
A |
C |
5: 72,187,241 (GRCm39) |
E178A |
possibly damaging |
Het |
| Gbp11 |
A |
G |
5: 105,473,355 (GRCm39) |
|
|
Het |
| Grin3b |
C |
A |
10: 79,812,295 (GRCm39) |
A845E |
probably damaging |
Het |
| Hoxd4 |
A |
G |
2: 74,557,705 (GRCm39) |
Y28C |
probably damaging |
Het |
| Igsf10 |
G |
A |
3: 59,237,760 (GRCm39) |
T807M |
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,778,767 (GRCm39) |
|
probably null |
Het |
| Kdm5a |
C |
A |
6: 120,375,939 (GRCm39) |
T565K |
probably damaging |
Het |
| Mok |
A |
G |
12: 110,800,558 (GRCm39) |
|
probably null |
Het |
| Mto1 |
A |
T |
9: 78,381,117 (GRCm39) |
I73F |
probably damaging |
Het |
| Mtss2 |
G |
A |
8: 111,458,796 (GRCm39) |
D310N |
probably damaging |
Het |
| Ncf2 |
T |
C |
1: 152,709,821 (GRCm39) |
Y393H |
probably damaging |
Het |
| Or13c25 |
A |
T |
4: 52,911,459 (GRCm39) |
C112S |
probably damaging |
Het |
| Or2f1b |
T |
C |
6: 42,739,591 (GRCm39) |
S202P |
probably damaging |
Het |
| Or2y14 |
G |
T |
11: 49,405,369 (GRCm39) |
K301N |
probably damaging |
Het |
| Or4f47 |
A |
C |
2: 111,972,751 (GRCm39) |
I154L |
probably benign |
Het |
| Or4k49 |
A |
G |
2: 111,494,964 (GRCm39) |
H131R |
possibly damaging |
Het |
| Or52z1 |
T |
C |
7: 103,437,452 (GRCm39) |
T11A |
possibly damaging |
Het |
| Phxr2 |
T |
A |
10: 98,961,952 (GRCm39) |
|
probably benign |
Het |
| Potefam3f |
A |
G |
8: 20,499,951 (GRCm39) |
K242E |
unknown |
Het |
| Rnf17 |
A |
G |
14: 56,658,626 (GRCm39) |
|
probably null |
Het |
| Serpinb9d |
T |
C |
13: 33,378,677 (GRCm39) |
M41T |
probably damaging |
Het |
| Slc12a5 |
T |
A |
2: 164,834,384 (GRCm39) |
|
probably null |
Het |
| Slc22a6 |
G |
A |
19: 8,599,494 (GRCm39) |
R331H |
probably benign |
Het |
| Spg11 |
G |
C |
2: 121,943,440 (GRCm39) |
|
probably null |
Het |
| Src |
T |
A |
2: 157,299,075 (GRCm39) |
V24E |
probably benign |
Het |
| Srgap1 |
A |
T |
10: 121,761,846 (GRCm39) |
Y101N |
probably benign |
Het |
| Vmn2r30 |
T |
A |
7: 7,337,307 (GRCm39) |
T110S |
probably benign |
Het |
| Vwa3a |
A |
G |
7: 120,361,646 (GRCm39) |
E119G |
possibly damaging |
Het |
| Whamm |
T |
A |
7: 81,241,512 (GRCm39) |
D274E |
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 |
|
|
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 |
|
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'- AGTTGGAGACTGTTTCAAAGGG -3'
(R):5'- GCATTGTGGATCGTCTGATGAC -3'
Sequencing Primer
(F):5'- TCAAGAAAAAGAGAAATGGAGAGAC -3'
(R):5'- GTGGCCACAGCTAAGGTG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation