Incidental Mutation 'R4369:Map7d1'
| ID |
325885 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map7d1
|
| Ensembl Gene |
ENSMUSG00000028849 |
| Gene Name |
MAP7 domain containing 1 |
| Synonyms |
Parcc1, Mtap7d1, Rprc1 |
| MMRRC Submission |
041116-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.787)
|
| Stock # |
R4369 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
126125960-126150112 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 126128866 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 436
(S436T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113250
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061143]
[ENSMUST00000106132]
[ENSMUST00000122129]
|
| AlphaFold |
A2AJI0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061143
AA Change: S468T
PolyPhen 2
Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000054338
Gene: ENSMUSG00000028849
AA Change: S468T
| 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: S396T
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101738
Gene: ENSMUSG00000028849
AA Change: S396T
| 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: S436T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113250
Gene: ENSMUSG00000028849
AA Change: S436T
| 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 |
unknown
Transcript: ENSMUST00000125981
AA Change: S212T
|
| SMART Domains |
Protein: ENSMUSP00000120292
Gene: ENSMUSG00000028849
AA Change: S212T
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730596B20Rik |
A |
T |
6: 52,156,042 (GRCm39) |
|
probably benign |
Het |
| A730018C14Rik |
T |
C |
12: 112,382,048 (GRCm39) |
|
noncoding transcript |
Het |
| Abcc1 |
T |
G |
16: 14,278,857 (GRCm39) |
S1056A |
possibly damaging |
Het |
| Akr1c19 |
A |
T |
13: 4,283,779 (GRCm39) |
K4* |
probably null |
Het |
| Amph |
T |
A |
13: 19,321,870 (GRCm39) |
S516R |
probably benign |
Het |
| Apoh |
T |
C |
11: 108,288,205 (GRCm39) |
F108L |
probably damaging |
Het |
| Arg2 |
T |
C |
12: 79,196,746 (GRCm39) |
S156P |
probably damaging |
Het |
| AU018091 |
A |
T |
7: 3,207,815 (GRCm39) |
L582* |
probably null |
Het |
| Bckdk |
C |
T |
7: 127,505,591 (GRCm39) |
A238V |
probably benign |
Het |
| Bean1 |
T |
A |
8: 104,943,742 (GRCm39) |
V275D |
probably damaging |
Het |
| Brpf3 |
C |
T |
17: 29,055,594 (GRCm39) |
A1181V |
probably damaging |
Het |
| Cfb |
T |
C |
17: 35,079,290 (GRCm39) |
K287R |
probably damaging |
Het |
| Cpd |
T |
C |
11: 76,688,537 (GRCm39) |
N912D |
possibly damaging |
Het |
| Cyp4f14 |
T |
C |
17: 33,128,232 (GRCm39) |
N261S |
probably benign |
Het |
| Dennd3 |
T |
C |
15: 73,412,658 (GRCm39) |
I440T |
probably damaging |
Het |
| Dhx38 |
C |
T |
8: 110,279,763 (GRCm39) |
V976I |
probably damaging |
Het |
| Dpep2 |
T |
G |
8: 106,711,707 (GRCm39) |
L573F |
probably benign |
Het |
| Ebag9 |
T |
C |
15: 44,491,865 (GRCm39) |
S86P |
probably benign |
Het |
| Epha1 |
T |
C |
6: 42,342,391 (GRCm39) |
Y319C |
probably damaging |
Het |
| Eps8l3 |
T |
C |
3: 107,798,330 (GRCm39) |
Y466H |
possibly damaging |
Het |
| Ercc6 |
A |
G |
14: 32,239,164 (GRCm39) |
E84G |
probably damaging |
Het |
| Ffar1 |
A |
G |
7: 30,560,033 (GRCm39) |
I288T |
probably benign |
Het |
| Flnb |
C |
T |
14: 7,942,216 (GRCm38) |
T2398I |
probably benign |
Het |
| Galnt15 |
T |
C |
14: 31,751,496 (GRCm39) |
F16S |
possibly damaging |
Het |
| Golgb1 |
A |
G |
16: 36,737,269 (GRCm39) |
E2172G |
probably damaging |
Het |
| Lhx4 |
T |
A |
1: 155,580,560 (GRCm39) |
H161L |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,386,155 (GRCm39) |
N3457S |
possibly damaging |
Het |
| Nmral1 |
T |
C |
16: 4,532,394 (GRCm39) |
Y139C |
probably damaging |
Het |
| Noc2l |
A |
G |
4: 156,321,853 (GRCm39) |
D84G |
possibly damaging |
Het |
| Or2a25 |
T |
A |
6: 42,889,211 (GRCm39) |
Y251* |
probably null |
Het |
| Or5p79 |
C |
T |
7: 108,221,096 (GRCm39) |
L26F |
probably benign |
Het |
| Osbpl11 |
T |
C |
16: 33,045,018 (GRCm39) |
S386P |
probably damaging |
Het |
| Papss2 |
A |
G |
19: 32,618,791 (GRCm39) |
H283R |
probably damaging |
Het |
| Pcdha11 |
T |
C |
18: 37,139,796 (GRCm39) |
V475A |
possibly damaging |
Het |
| Pglyrp3 |
T |
C |
3: 91,935,386 (GRCm39) |
I212T |
probably damaging |
Het |
| Pkhd1l1 |
C |
T |
15: 44,368,949 (GRCm39) |
R865W |
probably benign |
Het |
| Prdm9 |
T |
C |
17: 15,764,708 (GRCm39) |
T691A |
probably benign |
Het |
| Rnf121 |
T |
C |
7: 101,673,313 (GRCm39) |
D206G |
probably benign |
Het |
| Rnf122 |
T |
A |
8: 31,602,177 (GRCm39) |
M1K |
probably null |
Het |
| Shank2 |
T |
C |
7: 143,733,518 (GRCm39) |
S22P |
probably damaging |
Het |
| Smg6 |
C |
T |
11: 74,823,269 (GRCm39) |
R175* |
probably null |
Het |
| Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
| Thsd7a |
C |
T |
6: 12,468,907 (GRCm39) |
C557Y |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,464,242 (GRCm39) |
|
probably benign |
Het |
| Trgv4 |
T |
C |
13: 19,369,567 (GRCm39) |
Y104H |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,594,345 (GRCm39) |
W18788* |
probably null |
Het |
| Vmn2r82 |
A |
T |
10: 79,231,914 (GRCm39) |
I638F |
probably benign |
Het |
| Zswim6 |
A |
G |
13: 107,863,229 (GRCm39) |
|
noncoding transcript |
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 |
|
|
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'- ATTGCTCCTTCTGAGGCTGG -3'
(R):5'- TACAACCCAGCCTGCATGTG -3'
Sequencing Primer
(F):5'- AGCGGCTCTACTCTTGCG -3'
(R):5'- ACGAAGTTGCTTTCACACGCATG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation