Incidental Mutation 'R4376:Atp10d'
| ID |
325096 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp10d
|
| Ensembl Gene |
ENSMUSG00000046808 |
| Gene Name |
ATPase, class V, type 10D |
| Synonyms |
IMAGE:1069176, D5Buc24e, 9830145H18Rik |
| MMRRC Submission |
041120-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.308)
|
| Stock # |
R4376 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
72360672-72456114 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72454318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 189
(L189P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005352]
[ENSMUST00000094710]
[ENSMUST00000126664]
[ENSMUST00000167460]
[ENSMUST00000175766]
[ENSMUST00000177290]
[ENSMUST00000176974]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005352
|
| SMART Domains |
Protein: ENSMUSP00000005352
Gene: ENSMUSG00000005220
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
15 |
N/A |
INTRINSIC |
|
transmembrane domain
|
113 |
135 |
N/A |
INTRINSIC |
|
FRI
|
205 |
318 |
6.15e-11 |
SMART |
|
LDLa
|
336 |
372 |
1.31e-8 |
SMART |
|
LDLa
|
373 |
408 |
1.5e-8 |
SMART |
|
LDLa
|
409 |
447 |
5.47e-11 |
SMART |
|
LDLa
|
448 |
484 |
1.22e-8 |
SMART |
|
low complexity region
|
508 |
521 |
N/A |
INTRINSIC |
|
FRI
|
522 |
643 |
2.75e-31 |
SMART |
|
LDLa
|
647 |
684 |
2.19e-10 |
SMART |
|
LDLa
|
685 |
722 |
1.76e-5 |
SMART |
|
LDLa
|
723 |
759 |
4.18e-7 |
SMART |
|
SR
|
758 |
853 |
3.99e-10 |
SMART |
|
Tryp_SPc
|
868 |
1097 |
5.45e-76 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094710
AA Change: L189P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142749
Gene: ENSMUSG00000046808
AA Change: L189P
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1eula_
|
5 |
180 |
9e-15 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000126664
AA Change: L1380P
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143594
Gene: ENSMUSG00000046808
AA Change: L1380P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:PhoLip_ATPase_N
|
111 |
176 |
1.2e-21 |
PFAM |
|
Pfam:E1-E2_ATPase
|
181 |
450 |
3e-10 |
PFAM |
|
low complexity region
|
523 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
684 |
696 |
N/A |
INTRINSIC |
|
Pfam:Cation_ATPase
|
739 |
859 |
3.4e-7 |
PFAM |
|
Pfam:HAD
|
754 |
1114 |
1.3e-12 |
PFAM |
|
Pfam:PhoLip_ATPase_C
|
1131 |
1376 |
4.3e-77 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136350
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146393
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167460
|
| SMART Domains |
Protein: ENSMUSP00000127389
Gene: ENSMUSG00000005220
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
47 |
69 |
N/A |
INTRINSIC |
|
FRI
|
139 |
252 |
6.15e-11 |
SMART |
|
LDLa
|
270 |
306 |
1.31e-8 |
SMART |
|
LDLa
|
307 |
342 |
1.5e-8 |
SMART |
|
LDLa
|
343 |
381 |
5.47e-11 |
SMART |
|
LDLa
|
382 |
418 |
1.22e-8 |
SMART |
|
low complexity region
|
442 |
455 |
N/A |
INTRINSIC |
|
FRI
|
456 |
577 |
2.75e-31 |
SMART |
|
LDLa
|
581 |
618 |
2.19e-10 |
SMART |
|
LDLa
|
619 |
656 |
1.76e-5 |
SMART |
|
LDLa
|
657 |
693 |
4.18e-7 |
SMART |
|
SR
|
692 |
787 |
3.99e-10 |
SMART |
|
Tryp_SPc
|
802 |
1031 |
5.45e-76 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175766
|
| SMART Domains |
Protein: ENSMUSP00000135889
Gene: ENSMUSG00000005220
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
45 |
67 |
N/A |
INTRINSIC |
|
FRI
|
137 |
250 |
6.15e-11 |
SMART |
|
LDLa
|
268 |
304 |
1.31e-8 |
SMART |
|
LDLa
|
305 |
343 |
2.07e-11 |
SMART |
|
low complexity region
|
367 |
380 |
N/A |
INTRINSIC |
|
FRI
|
381 |
502 |
2.75e-31 |
SMART |
|
LDLa
|
506 |
543 |
2.19e-10 |
SMART |
|
LDLa
|
544 |
581 |
1.76e-5 |
SMART |
|
LDLa
|
582 |
618 |
4.18e-7 |
SMART |
|
SR
|
617 |
712 |
3.99e-10 |
SMART |
|
Tryp_SPc
|
727 |
956 |
5.45e-76 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177290
|
| SMART Domains |
Protein: ENSMUSP00000135511
Gene: ENSMUSG00000005220
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
47 |
69 |
N/A |
INTRINSIC |
|
FRI
|
72 |
185 |
6.15e-11 |
SMART |
|
LDLa
|
203 |
239 |
1.31e-8 |
SMART |
|
LDLa
|
240 |
275 |
1.5e-8 |
SMART |
|
LDLa
|
276 |
314 |
5.47e-11 |
SMART |
|
LDLa
|
315 |
351 |
1.22e-8 |
SMART |
|
low complexity region
|
375 |
388 |
N/A |
INTRINSIC |
|
FRI
|
389 |
510 |
2.75e-31 |
SMART |
|
LDLa
|
514 |
551 |
2.19e-10 |
SMART |
|
LDLa
|
552 |
589 |
1.76e-5 |
SMART |
|
LDLa
|
590 |
626 |
4.18e-7 |
SMART |
|
SR
|
625 |
720 |
3.99e-10 |
SMART |
|
Tryp_SPc
|
735 |
964 |
5.45e-76 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176974
|
| SMART Domains |
Protein: ENSMUSP00000135722
Gene: ENSMUSG00000005220
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
47 |
69 |
N/A |
INTRINSIC |
|
FRI
|
139 |
252 |
6.15e-11 |
SMART |
|
LDLa
|
270 |
306 |
1.31e-8 |
SMART |
|
LDLa
|
307 |
344 |
3.86e-11 |
SMART |
|
LDLa
|
345 |
381 |
1.22e-8 |
SMART |
|
low complexity region
|
405 |
418 |
N/A |
INTRINSIC |
|
FRI
|
419 |
540 |
2.75e-31 |
SMART |
|
LDLa
|
544 |
581 |
2.19e-10 |
SMART |
|
LDLa
|
582 |
619 |
1.76e-5 |
SMART |
|
LDLa
|
620 |
656 |
4.18e-7 |
SMART |
|
SR
|
655 |
750 |
3.99e-10 |
SMART |
|
Tryp_SPc
|
765 |
994 |
5.45e-76 |
SMART |
|
| Meta Mutation Damage Score |
0.3043 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
A |
G |
10: 14,314,238 (GRCm39) |
S683P |
probably benign |
Het |
| Adgrg6 |
G |
A |
10: 14,344,794 (GRCm39) |
T53M |
probably damaging |
Het |
| Csf1 |
T |
A |
3: 107,664,055 (GRCm39) |
T38S |
probably damaging |
Het |
| Eaf2 |
A |
G |
16: 36,620,998 (GRCm39) |
L184P |
unknown |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fam83e |
A |
T |
7: 45,373,317 (GRCm39) |
S228C |
probably damaging |
Het |
| Gon4l |
C |
A |
3: 88,814,694 (GRCm39) |
P1888T |
probably benign |
Het |
| Kit |
T |
C |
5: 75,801,159 (GRCm39) |
I515T |
probably benign |
Het |
| Kmt2c |
C |
T |
5: 25,520,324 (GRCm39) |
V1929I |
probably benign |
Het |
| Marchf11 |
A |
G |
15: 26,309,532 (GRCm39) |
E62G |
probably damaging |
Het |
| Mlh3 |
C |
A |
12: 85,305,972 (GRCm39) |
R1175L |
probably benign |
Het |
| Mrps2 |
T |
C |
2: 28,358,871 (GRCm39) |
S67P |
probably benign |
Het |
| Nlrp12 |
A |
G |
7: 3,289,576 (GRCm39) |
L312P |
possibly damaging |
Het |
| Or13f5 |
A |
T |
4: 52,826,195 (GRCm39) |
N266I |
possibly damaging |
Het |
| Or4c122 |
T |
C |
2: 89,079,589 (GRCm39) |
R150G |
possibly damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,105,280 (GRCm39) |
I245N |
possibly damaging |
Het |
| Pank1 |
C |
T |
19: 34,855,104 (GRCm39) |
V4I |
probably benign |
Het |
| Pdia4 |
G |
A |
6: 47,775,326 (GRCm39) |
R495W |
probably damaging |
Het |
| Pfn4 |
T |
A |
12: 4,820,182 (GRCm39) |
D10E |
probably damaging |
Het |
| Plce1 |
T |
C |
19: 38,693,891 (GRCm39) |
|
probably null |
Het |
| Pole |
T |
A |
5: 110,485,071 (GRCm39) |
I395K |
possibly damaging |
Het |
| Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
| Prcc |
A |
G |
3: 87,774,714 (GRCm39) |
Y363H |
probably damaging |
Het |
| Rictor |
T |
C |
15: 6,816,448 (GRCm39) |
V1240A |
probably benign |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| Steep1 |
C |
A |
X: 36,087,812 (GRCm39) |
C206F |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Tsnaxip1 |
C |
A |
8: 106,568,433 (GRCm39) |
C372* |
probably null |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
|
| Other mutations in Atp10d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1350:Atp10d
|
UTSW |
5 |
72,418,469 (GRCm39) |
splice site |
probably benign |
|
|
R3500:Atp10d
|
UTSW |
5 |
72,403,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3522:Atp10d
|
UTSW |
5 |
72,396,500 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3833:Atp10d
|
UTSW |
5 |
72,396,568 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4377:Atp10d
|
UTSW |
5 |
72,454,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4755:Atp10d
|
UTSW |
5 |
72,403,509 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4828:Atp10d
|
UTSW |
5 |
72,396,461 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5224:Atp10d
|
UTSW |
5 |
72,426,669 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5289:Atp10d
|
UTSW |
5 |
72,412,466 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5636:Atp10d
|
UTSW |
5 |
72,445,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5640:Atp10d
|
UTSW |
5 |
72,404,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5653:Atp10d
|
UTSW |
5 |
72,421,410 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5681:Atp10d
|
UTSW |
5 |
72,404,289 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R5760:Atp10d
|
UTSW |
5 |
72,418,280 (GRCm39) |
missense |
probably benign |
0.27 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTACCTTCGCCTATCTCAGAAG -3'
(R):5'- AGGATCCAGTCATCTTGGAGG -3'
Sequencing Primer
(F):5'- TTCGCCTATCTCAGAAGCCAAGTG -3'
(R):5'- AGTAGACACTGTTGCTGACTTC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation