Incidental Mutation 'R5397:Map7'
| ID |
429750 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map7
|
| Ensembl Gene |
ENSMUSG00000019996 |
| Gene Name |
microtubule-associated protein 7 |
| Synonyms |
E-MAP-115, Mtap7, ste, mshi, mste |
| MMRRC Submission |
042968-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.398)
|
| Stock # |
R5397 (G1)
|
| Quality Score |
209 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
20024666-20157336 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 20149067 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 514
(R514Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020173]
[ENSMUST00000116259]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000020173
AA Change: R506Q
|
| SMART Domains |
Protein: ENSMUSP00000020173
Gene: ENSMUSG00000019996
AA Change: R506Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
85 |
N/A |
INTRINSIC |
|
coiled coil region
|
89 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
375 |
N/A |
INTRINSIC |
|
low complexity region
|
379 |
392 |
N/A |
INTRINSIC |
|
Pfam:MAP7
|
447 |
616 |
1.1e-59 |
PFAM |
|
internal_repeat_1
|
623 |
658 |
5.23e-6 |
PROSPERO |
|
internal_repeat_1
|
699 |
736 |
5.23e-6 |
PROSPERO |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000116259
AA Change: R514Q
|
| SMART Domains |
Protein: ENSMUSP00000111963
Gene: ENSMUSG00000019996
AA Change: R514Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
85 |
N/A |
INTRINSIC |
|
coiled coil region
|
89 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
375 |
N/A |
INTRINSIC |
|
low complexity region
|
379 |
392 |
N/A |
INTRINSIC |
|
Pfam:MAP7
|
453 |
611 |
4.7e-46 |
PFAM |
|
internal_repeat_1
|
623 |
656 |
2.41e-5 |
PROSPERO |
|
internal_repeat_1
|
699 |
734 |
2.41e-5 |
PROSPERO |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213372
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215812
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215889
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216308
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217535
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a microtubule-associated protein that is predominantly expressed in cells of epithelial origin. Microtubule-associated proteins are thought to be involved in microtubule dynamics, which is essential for cell polarization and differentiation. This protein has been shown to be able to stabilize microtubules, and may serve to modulate microtubule functions. Studies of the related mouse protein also suggested an essential role in microtubule function required for spermatogenesis. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
PHENOTYPE: Males homozygous for mutations in this marker are sterile with small, disorganized testes, small epidiymis and seminiferous tubules. They have deformed spermatid nuclei and a block in spermatogenesis. Aberrant microtubules are seen in elongating spermatids and sertoli cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox2 |
T |
C |
14: 8,243,803 (GRCm38) |
T518A |
probably benign |
Het |
| Acvr1b |
T |
A |
15: 101,096,845 (GRCm39) |
V254D |
probably damaging |
Het |
| Adar |
T |
C |
3: 89,642,626 (GRCm39) |
I169T |
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Arap1 |
A |
T |
7: 101,034,119 (GRCm39) |
Q187L |
possibly damaging |
Het |
| Atad5 |
T |
A |
11: 80,002,319 (GRCm39) |
M1037K |
probably damaging |
Het |
| Bsg |
T |
A |
10: 79,544,629 (GRCm39) |
W56R |
probably damaging |
Het |
| C1qtnf3 |
A |
G |
15: 10,978,627 (GRCm39) |
T276A |
probably damaging |
Het |
| Capn2 |
A |
G |
1: 182,298,271 (GRCm39) |
C665R |
probably damaging |
Het |
| Cast |
A |
G |
13: 74,869,056 (GRCm39) |
S248P |
possibly damaging |
Het |
| Cd68 |
C |
T |
11: 69,556,484 (GRCm39) |
V108I |
probably benign |
Het |
| Cyp2d11 |
A |
T |
15: 82,276,279 (GRCm39) |
W131R |
probably damaging |
Het |
| Dhx58 |
A |
G |
11: 100,594,746 (GRCm39) |
V50A |
probably damaging |
Het |
| Fam124a |
A |
G |
14: 62,843,838 (GRCm39) |
S449G |
probably benign |
Het |
| Flnc |
G |
A |
6: 29,441,160 (GRCm39) |
M371I |
possibly damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gpr149 |
A |
G |
3: 62,438,226 (GRCm39) |
S644P |
probably damaging |
Het |
| Gucy1b1 |
G |
A |
3: 81,951,458 (GRCm39) |
T274I |
possibly damaging |
Het |
| Kcnq5 |
A |
G |
1: 21,476,080 (GRCm39) |
V541A |
probably damaging |
Het |
| Kdm5b |
G |
A |
1: 134,549,836 (GRCm39) |
|
probably null |
Het |
| Lig4 |
G |
T |
8: 10,022,644 (GRCm39) |
R379S |
probably benign |
Het |
| Mertk |
T |
A |
2: 128,613,384 (GRCm39) |
F467I |
possibly damaging |
Het |
| Mettl4 |
A |
T |
17: 95,034,705 (GRCm39) |
Y463* |
probably null |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Nme8 |
T |
C |
13: 19,878,549 (GRCm39) |
D70G |
probably damaging |
Het |
| Npat |
A |
G |
9: 53,481,774 (GRCm39) |
N1161D |
probably damaging |
Het |
| Or4k77 |
T |
A |
2: 111,199,285 (GRCm39) |
C103S |
probably benign |
Het |
| Or51ac3 |
T |
A |
7: 103,213,713 (GRCm39) |
I258F |
probably damaging |
Het |
| Or6c76b |
T |
C |
10: 129,692,579 (GRCm39) |
F64S |
probably damaging |
Het |
| Paxip1 |
A |
T |
5: 27,977,002 (GRCm39) |
|
probably benign |
Het |
| Peg10 |
C |
CTCG |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Plxnc1 |
T |
C |
10: 94,679,614 (GRCm39) |
T923A |
probably benign |
Het |
| Pms1 |
T |
A |
1: 53,231,279 (GRCm39) |
K857* |
probably null |
Het |
| Ppp1r9b |
A |
G |
11: 94,892,936 (GRCm39) |
E260G |
probably damaging |
Het |
| Prpf3 |
A |
T |
3: 95,760,891 (GRCm39) |
S4T |
probably benign |
Het |
| Rdh14 |
T |
A |
12: 10,444,869 (GRCm39) |
V240D |
probably damaging |
Het |
| Ripply1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
X: 138,680,599 (GRCm39) |
|
probably benign |
Het |
| S100a1 |
A |
T |
3: 90,419,442 (GRCm39) |
M1K |
probably null |
Het |
| Slc2a5 |
G |
A |
4: 150,224,280 (GRCm39) |
|
probably null |
Het |
| Slc5a5 |
T |
C |
8: 71,343,823 (GRCm39) |
T160A |
probably damaging |
Het |
| Srcap |
T |
G |
7: 127,152,468 (GRCm39) |
|
probably null |
Het |
| Tgm6 |
T |
A |
2: 129,983,828 (GRCm39) |
M329K |
possibly damaging |
Het |
| Tom1l1 |
G |
A |
11: 90,552,600 (GRCm39) |
A201V |
probably benign |
Het |
| Trgv5 |
A |
C |
13: 19,376,728 (GRCm39) |
E42D |
possibly damaging |
Het |
| Ttc13 |
T |
C |
8: 125,402,002 (GRCm39) |
T662A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,555,599 (GRCm39) |
T30469A |
probably damaging |
Het |
| Ube3a |
T |
A |
7: 58,936,660 (GRCm39) |
S645R |
probably benign |
Het |
| Vgll2 |
A |
G |
10: 51,901,262 (GRCm39) |
E64G |
probably damaging |
Het |
| Vmn1r25 |
A |
T |
6: 57,956,060 (GRCm39) |
C76* |
probably null |
Het |
| Vmn2r101 |
A |
G |
17: 19,809,104 (GRCm39) |
N78D |
probably damaging |
Het |
| Zcchc10 |
CCAGCAGCAGCAGCAGCAGCAG |
CCAGCAGCAGCAGCAGCAG |
11: 53,223,344 (GRCm39) |
|
probably benign |
Het |
| Zcchc7 |
C |
A |
4: 44,926,048 (GRCm39) |
A28E |
probably damaging |
Het |
|
| Other mutations in Map7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01456:Map7
|
APN |
10 |
20,149,550 (GRCm39) |
missense |
unknown |
|
|
IGL03019:Map7
|
APN |
10 |
20,143,101 (GRCm39) |
missense |
unknown |
|
|
IGL03263:Map7
|
APN |
10 |
20,121,068 (GRCm39) |
nonsense |
probably null |
|
|
R0893:Map7
|
UTSW |
10 |
20,149,629 (GRCm39) |
splice site |
probably null |
|
|
R1172:Map7
|
UTSW |
10 |
20,121,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2097:Map7
|
UTSW |
10 |
20,122,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2239:Map7
|
UTSW |
10 |
20,154,028 (GRCm39) |
missense |
unknown |
|
|
R3760:Map7
|
UTSW |
10 |
20,152,027 (GRCm39) |
splice site |
probably benign |
|
|
R3980:Map7
|
UTSW |
10 |
20,143,099 (GRCm39) |
missense |
unknown |
|
|
R5009:Map7
|
UTSW |
10 |
20,137,664 (GRCm39) |
nonsense |
probably null |
|
|
R5422:Map7
|
UTSW |
10 |
20,142,512 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5501:Map7
|
UTSW |
10 |
20,151,948 (GRCm39) |
missense |
unknown |
|
|
R5664:Map7
|
UTSW |
10 |
20,143,105 (GRCm39) |
missense |
unknown |
|
|
R5773:Map7
|
UTSW |
10 |
20,122,390 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6209:Map7
|
UTSW |
10 |
20,152,026 (GRCm39) |
splice site |
probably null |
|
|
R6438:Map7
|
UTSW |
10 |
20,143,003 (GRCm39) |
missense |
unknown |
|
|
R6446:Map7
|
UTSW |
10 |
20,153,979 (GRCm39) |
missense |
unknown |
|
|
R6919:Map7
|
UTSW |
10 |
20,046,828 (GRCm39) |
start gained |
probably benign |
|
|
R7327:Map7
|
UTSW |
10 |
20,109,208 (GRCm39) |
missense |
unknown |
|
|
R7440:Map7
|
UTSW |
10 |
20,137,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7596:Map7
|
UTSW |
10 |
20,153,927 (GRCm39) |
missense |
unknown |
|
|
R7958:Map7
|
UTSW |
10 |
20,105,575 (GRCm39) |
missense |
unknown |
|
|
R8517:Map7
|
UTSW |
10 |
20,137,581 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8524:Map7
|
UTSW |
10 |
20,142,569 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8977:Map7
|
UTSW |
10 |
20,145,336 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9164:Map7
|
UTSW |
10 |
20,122,410 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9453:Map7
|
UTSW |
10 |
20,153,981 (GRCm39) |
missense |
unknown |
|
|
R9522:Map7
|
UTSW |
10 |
20,105,642 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9574:Map7
|
UTSW |
10 |
20,153,966 (GRCm39) |
missense |
unknown |
|
|
X0022:Map7
|
UTSW |
10 |
20,145,328 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGTCATTGTTGTATGCTGC -3'
(R):5'- ATCCCACTCATCTGAGGACAG -3'
Sequencing Primer
(F):5'- TGCTGCTTCTGACAAAAATGAAG -3'
(R):5'- TCATCTGAGGACAGCCCCTG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation