Incidental Mutation 'R4996:Atp13a4'
| ID |
385294 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a4
|
| Ensembl Gene |
ENSMUSG00000038094 |
| Gene Name |
ATPase type 13A4 |
| Synonyms |
9330174J19Rik, 4631413J11Rik |
| MMRRC Submission |
042590-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4996 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
29395853-29544864 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29472004 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 209
(I209N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060987
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039090]
[ENSMUST00000057018]
[ENSMUST00000182013]
[ENSMUST00000182627]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039090
AA Change: I209N
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000048753
Gene: ENSMUSG00000038094
AA Change: I209N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P5-ATPase
|
17 |
143 |
8.4e-31 |
PFAM |
|
Cation_ATPase_N
|
147 |
223 |
1.09e-1 |
SMART |
|
Pfam:E1-E2_ATPase
|
229 |
476 |
1.7e-36 |
PFAM |
|
Pfam:Hydrolase
|
481 |
769 |
3.9e-11 |
PFAM |
|
Pfam:HAD
|
484 |
787 |
4.1e-14 |
PFAM |
|
Pfam:Hydrolase_like2
|
574 |
637 |
1.2e-9 |
PFAM |
|
transmembrane domain
|
824 |
846 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057018
AA Change: I209N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000060987
Gene: ENSMUSG00000038094
AA Change: I209N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P5-ATPase
|
17 |
142 |
9.6e-34 |
PFAM |
|
Cation_ATPase_N
|
147 |
223 |
1.09e-1 |
SMART |
|
Pfam:E1-E2_ATPase
|
228 |
476 |
1.6e-34 |
PFAM |
|
Pfam:Hydrolase
|
481 |
767 |
1.1e-10 |
PFAM |
|
Pfam:HAD
|
484 |
858 |
3.3e-23 |
PFAM |
|
Pfam:Cation_ATPase
|
573 |
637 |
4.9e-8 |
PFAM |
|
transmembrane domain
|
902 |
924 |
N/A |
INTRINSIC |
|
transmembrane domain
|
934 |
951 |
N/A |
INTRINSIC |
|
transmembrane domain
|
972 |
994 |
N/A |
INTRINSIC |
|
low complexity region
|
1014 |
1023 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1040 |
1057 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1070 |
1092 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1107 |
1126 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182013
|
| SMART Domains |
Protein: ENSMUSP00000138583
Gene: ENSMUSG00000038094
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P5-ATPase
|
17 |
84 |
4.2e-26 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182627
AA Change: I209N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138479
Gene: ENSMUSG00000038094
AA Change: I209N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:P5-ATPase
|
17 |
143 |
2.1e-29 |
PFAM |
|
Cation_ATPase_N
|
147 |
223 |
1.09e-1 |
SMART |
|
Pfam:E1-E2_ATPase
|
229 |
476 |
3.9e-35 |
PFAM |
|
Pfam:Hydrolase
|
481 |
861 |
4.2e-16 |
PFAM |
|
Pfam:HAD
|
484 |
858 |
1.9e-23 |
PFAM |
|
Pfam:Hydrolase_like2
|
574 |
637 |
2.2e-8 |
PFAM |
|
transmembrane domain
|
902 |
924 |
N/A |
INTRINSIC |
|
transmembrane domain
|
934 |
951 |
N/A |
INTRINSIC |
|
transmembrane domain
|
972 |
994 |
N/A |
INTRINSIC |
|
low complexity region
|
1014 |
1023 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1040 |
1057 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1070 |
1092 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1107 |
1126 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,426,349 (GRCm38) |
V173M |
probably damaging |
Het |
| Actl11 |
A |
G |
9: 107,931,735 (GRCm38) |
I1086V |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,578,734 (GRCm38) |
S500G |
probably benign |
Het |
| Ahcyl1 |
A |
T |
3: 107,668,287 (GRCm38) |
V394E |
probably damaging |
Het |
| Alg9 |
T |
C |
9: 50,808,705 (GRCm38) |
F494L |
probably damaging |
Het |
| Ankrd55 |
C |
A |
13: 112,356,088 (GRCm38) |
D264E |
possibly damaging |
Het |
| Asb14 |
A |
G |
14: 26,912,116 (GRCm38) |
N426S |
possibly damaging |
Het |
| Atm |
A |
T |
9: 53,524,507 (GRCm38) |
F168I |
probably benign |
Het |
| BB014433 |
A |
T |
8: 15,042,166 (GRCm38) |
L229Q |
probably benign |
Het |
| C130026I21Rik |
G |
T |
1: 85,247,094 (GRCm38) |
A240E |
probably benign |
Het |
| Calml3 |
T |
C |
13: 3,804,142 (GRCm38) |
D21G |
probably damaging |
Het |
| Capn10 |
A |
G |
1: 92,945,136 (GRCm38) |
N528S |
probably damaging |
Het |
| Ccnl2 |
T |
A |
4: 155,813,524 (GRCm38) |
D141E |
possibly damaging |
Het |
| Cd163 |
A |
G |
6: 124,319,147 (GRCm38) |
I817V |
probably benign |
Het |
| Cgnl1 |
CTTGCCCAGGTT |
CTT |
9: 71,724,826 (GRCm38) |
|
probably benign |
Het |
| Cln6 |
T |
A |
9: 62,850,655 (GRCm38) |
I232N |
probably damaging |
Het |
| Col22a1 |
A |
C |
15: 72,007,161 (GRCm38) |
V49G |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 15,910,452 (GRCm38) |
M3321K |
probably damaging |
Het |
| Cyp2u1 |
T |
A |
3: 131,298,284 (GRCm38) |
M196L |
probably benign |
Het |
| Dlec1 |
T |
G |
9: 119,146,050 (GRCm38) |
L1566R |
probably damaging |
Het |
| Dnajc3 |
A |
G |
14: 118,972,427 (GRCm38) |
T305A |
probably benign |
Het |
| Drp2 |
G |
A |
X: 134,441,316 (GRCm38) |
R567H |
probably damaging |
Homo |
| Efhd1 |
G |
T |
1: 87,264,558 (GRCm38) |
G37W |
possibly damaging |
Het |
| Exph5 |
G |
C |
9: 53,375,610 (GRCm38) |
E1330D |
possibly damaging |
Het |
| Fam207a |
A |
T |
10: 77,515,533 (GRCm38) |
W14R |
probably null |
Het |
| Fbln2 |
A |
T |
6: 91,266,010 (GRCm38) |
Y913F |
probably benign |
Het |
| Fmnl1 |
G |
A |
11: 103,182,656 (GRCm38) |
S167N |
possibly damaging |
Het |
| Frs3 |
A |
G |
17: 47,701,710 (GRCm38) |
E114G |
probably damaging |
Het |
| Gm960 |
T |
A |
19: 4,626,084 (GRCm38) |
K673N |
probably benign |
Het |
| Gmpr2 |
T |
C |
14: 55,676,795 (GRCm38) |
I169T |
probably damaging |
Het |
| Gria2 |
A |
G |
3: 80,707,141 (GRCm38) |
S531P |
probably damaging |
Het |
| Hace1 |
G |
A |
10: 45,649,950 (GRCm38) |
A296T |
probably benign |
Het |
| Hrasls |
G |
A |
16: 29,217,704 (GRCm38) |
W31* |
probably null |
Het |
| Inhbb |
A |
C |
1: 119,420,818 (GRCm38) |
L90R |
probably damaging |
Het |
| Insr |
C |
T |
8: 3,192,665 (GRCm38) |
R18Q |
probably null |
Het |
| Kdm6b |
G |
T |
11: 69,405,731 (GRCm38) |
P570Q |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,518,743 (GRCm38) |
V1803A |
probably benign |
Het |
| Lpin3 |
T |
A |
2: 160,905,287 (GRCm38) |
L811Q |
probably damaging |
Het |
| Lrrc8e |
C |
T |
8: 4,235,166 (GRCm38) |
L464F |
probably damaging |
Het |
| Micall2 |
A |
G |
5: 139,710,589 (GRCm38) |
S729P |
probably benign |
Het |
| Naca |
C |
T |
10: 128,042,429 (GRCm38) |
|
probably benign |
Het |
| Nav1 |
A |
T |
1: 135,465,971 (GRCm38) |
S1010T |
probably damaging |
Het |
| Nefm |
T |
C |
14: 68,121,121 (GRCm38) |
|
probably benign |
Het |
| Nlrp9c |
A |
T |
7: 26,385,747 (GRCm38) |
F136I |
possibly damaging |
Het |
| Nup210 |
A |
T |
6: 91,053,436 (GRCm38) |
F137Y |
probably benign |
Het |
| Olfr1079 |
T |
C |
2: 86,538,271 (GRCm38) |
I215V |
probably benign |
Het |
| Olfr402 |
A |
G |
11: 74,155,331 (GRCm38) |
H59R |
probably damaging |
Het |
| Olfr98 |
A |
G |
17: 37,262,867 (GRCm38) |
S266P |
probably benign |
Het |
| Otog |
C |
A |
7: 46,305,510 (GRCm38) |
C517* |
probably null |
Het |
| Otog |
C |
A |
7: 46,298,606 (GRCm38) |
H2344N |
possibly damaging |
Het |
| Pcdhac1 |
C |
T |
18: 37,092,527 (GRCm38) |
Q798* |
probably null |
Het |
| Pdhx |
T |
C |
2: 103,030,312 (GRCm38) |
D330G |
probably damaging |
Het |
| Peg10 |
ACATCAGGATCC |
ACATCAGGATCCCCATCAGGATCC |
6: 4,756,454 (GRCm38) |
|
probably benign |
Het |
| Pgr |
C |
A |
9: 8,900,913 (GRCm38) |
P149Q |
probably damaging |
Het |
| Ppm1h |
A |
T |
10: 122,941,340 (GRCm38) |
I504F |
probably damaging |
Het |
| Ppp6r3 |
A |
G |
19: 3,473,833 (GRCm38) |
S556P |
probably damaging |
Het |
| Ranbp9 |
G |
A |
13: 43,425,094 (GRCm38) |
Q168* |
probably null |
Het |
| Relb |
A |
T |
7: 19,615,603 (GRCm38) |
L259Q |
probably benign |
Het |
| Rfx5 |
G |
A |
3: 94,955,815 (GRCm38) |
V73I |
probably benign |
Het |
| Rgcc |
T |
C |
14: 79,290,276 (GRCm38) |
D125G |
possibly damaging |
Het |
| Rmnd5b |
A |
G |
11: 51,627,908 (GRCm38) |
V86A |
probably damaging |
Het |
| Slc15a5 |
G |
A |
6: 138,043,585 (GRCm38) |
T250M |
probably damaging |
Het |
| Slc7a2 |
A |
T |
8: 40,912,562 (GRCm38) |
K477* |
probably null |
Het |
| Smc2 |
T |
A |
4: 52,461,042 (GRCm38) |
|
probably null |
Het |
| Sox5 |
A |
T |
6: 144,028,344 (GRCm38) |
L226* |
probably null |
Het |
| Syne2 |
A |
G |
12: 75,943,950 (GRCm38) |
E1903G |
possibly damaging |
Het |
| Tenm3 |
A |
T |
8: 48,235,826 (GRCm38) |
I2226N |
probably damaging |
Het |
| Tmtc3 |
A |
T |
10: 100,447,224 (GRCm38) |
I823N |
probably damaging |
Het |
| Tor3a |
T |
C |
1: 156,655,772 (GRCm38) |
Y360C |
probably damaging |
Het |
| Trpc3 |
T |
C |
3: 36,662,818 (GRCm38) |
E357G |
probably benign |
Het |
| Ttc30a1 |
C |
T |
2: 75,979,922 (GRCm38) |
G606S |
probably benign |
Het |
| Tubgcp6 |
A |
T |
15: 89,103,490 (GRCm38) |
N1093K |
possibly damaging |
Het |
| Vmn1r64 |
T |
A |
7: 5,884,053 (GRCm38) |
T164S |
probably benign |
Het |
| Vmn2r40 |
T |
A |
7: 8,908,167 (GRCm38) |
Q709L |
probably damaging |
Het |
| Vmn2r81 |
A |
T |
10: 79,293,413 (GRCm38) |
I713L |
probably benign |
Het |
| Washc5 |
T |
C |
15: 59,333,635 (GRCm38) |
T686A |
probably benign |
Het |
| Wipf1 |
GCCTCCTCCTCCTCCTCCTCCTCC |
GCCTCCTCCTCCTCCTCCTCC |
2: 73,440,074 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Atp13a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00563:Atp13a4
|
APN |
16 |
29,403,778 (GRCm38) |
splice site |
probably benign |
|
|
IGL01577:Atp13a4
|
APN |
16 |
29,441,284 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL01834:Atp13a4
|
APN |
16 |
29,415,777 (GRCm38) |
splice site |
probably benign |
|
|
IGL02165:Atp13a4
|
APN |
16 |
29,434,010 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02194:Atp13a4
|
APN |
16 |
29,456,629 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02322:Atp13a4
|
APN |
16 |
29,440,102 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02553:Atp13a4
|
APN |
16 |
29,422,703 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02821:Atp13a4
|
APN |
16 |
29,441,307 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03349:Atp13a4
|
APN |
16 |
29,456,671 (GRCm38) |
missense |
probably benign |
0.01 |
|
G5030:Atp13a4
|
UTSW |
16 |
29,455,488 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0091:Atp13a4
|
UTSW |
16 |
29,455,395 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0100:Atp13a4
|
UTSW |
16 |
29,421,724 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0278:Atp13a4
|
UTSW |
16 |
29,454,834 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1263:Atp13a4
|
UTSW |
16 |
29,471,953 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R1378:Atp13a4
|
UTSW |
16 |
29,420,428 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1575:Atp13a4
|
UTSW |
16 |
29,409,710 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1720:Atp13a4
|
UTSW |
16 |
29,408,928 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1759:Atp13a4
|
UTSW |
16 |
29,456,611 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1967:Atp13a4
|
UTSW |
16 |
29,479,854 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2030:Atp13a4
|
UTSW |
16 |
29,422,684 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2113:Atp13a4
|
UTSW |
16 |
29,441,284 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R3409:Atp13a4
|
UTSW |
16 |
29,413,749 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3410:Atp13a4
|
UTSW |
16 |
29,413,749 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4032:Atp13a4
|
UTSW |
16 |
29,418,571 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4163:Atp13a4
|
UTSW |
16 |
29,541,250 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R4652:Atp13a4
|
UTSW |
16 |
29,452,603 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4772:Atp13a4
|
UTSW |
16 |
29,420,835 (GRCm38) |
intron |
probably benign |
|
|
R4795:Atp13a4
|
UTSW |
16 |
29,490,008 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4898:Atp13a4
|
UTSW |
16 |
29,408,961 (GRCm38) |
nonsense |
probably null |
|
|
R5112:Atp13a4
|
UTSW |
16 |
29,409,868 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5259:Atp13a4
|
UTSW |
16 |
29,456,610 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5395:Atp13a4
|
UTSW |
16 |
29,456,604 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5395:Atp13a4
|
UTSW |
16 |
29,420,888 (GRCm38) |
nonsense |
probably null |
|
|
R5640:Atp13a4
|
UTSW |
16 |
29,415,831 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5809:Atp13a4
|
UTSW |
16 |
29,433,987 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R5856:Atp13a4
|
UTSW |
16 |
29,433,987 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5912:Atp13a4
|
UTSW |
16 |
29,456,571 (GRCm38) |
missense |
probably benign |
0.33 |
|
R6282:Atp13a4
|
UTSW |
16 |
29,434,004 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6404:Atp13a4
|
UTSW |
16 |
29,471,901 (GRCm38) |
nonsense |
probably null |
|
|
R6497:Atp13a4
|
UTSW |
16 |
29,479,901 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6577:Atp13a4
|
UTSW |
16 |
29,479,841 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6806:Atp13a4
|
UTSW |
16 |
29,469,280 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7229:Atp13a4
|
UTSW |
16 |
29,420,905 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7438:Atp13a4
|
UTSW |
16 |
29,441,196 (GRCm38) |
missense |
|
|
|
R7493:Atp13a4
|
UTSW |
16 |
29,471,956 (GRCm38) |
missense |
|
|
|
R7712:Atp13a4
|
UTSW |
16 |
29,459,487 (GRCm38) |
missense |
|
|
|
R7739:Atp13a4
|
UTSW |
16 |
29,456,601 (GRCm38) |
missense |
|
|
|
R7897:Atp13a4
|
UTSW |
16 |
29,396,466 (GRCm38) |
missense |
|
|
|
R7950:Atp13a4
|
UTSW |
16 |
29,449,917 (GRCm38) |
missense |
|
|
|
R8217:Atp13a4
|
UTSW |
16 |
29,403,801 (GRCm38) |
missense |
|
|
|
R8227:Atp13a4
|
UTSW |
16 |
29,403,845 (GRCm38) |
missense |
|
|
|
R8273:Atp13a4
|
UTSW |
16 |
29,471,902 (GRCm38) |
missense |
|
|
|
R8488:Atp13a4
|
UTSW |
16 |
29,417,836 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R8508:Atp13a4
|
UTSW |
16 |
29,454,769 (GRCm38) |
nonsense |
probably null |
|
|
R8773:Atp13a4
|
UTSW |
16 |
29,441,580 (GRCm38) |
missense |
|
|
|
R8921:Atp13a4
|
UTSW |
16 |
29,454,774 (GRCm38) |
missense |
|
|
|
R8940:Atp13a4
|
UTSW |
16 |
29,454,690 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9056:Atp13a4
|
UTSW |
16 |
29,471,888 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9272:Atp13a4
|
UTSW |
16 |
29,449,979 (GRCm38) |
missense |
|
|
|
R9292:Atp13a4
|
UTSW |
16 |
29,422,682 (GRCm38) |
missense |
|
|
|
R9415:Atp13a4
|
UTSW |
16 |
29,409,003 (GRCm38) |
missense |
|
|
|
R9453:Atp13a4
|
UTSW |
16 |
29,420,841 (GRCm38) |
missense |
unknown |
|
|
R9497:Atp13a4
|
UTSW |
16 |
29,469,312 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R9541:Atp13a4
|
UTSW |
16 |
29,422,726 (GRCm38) |
missense |
|
|
|
R9614:Atp13a4
|
UTSW |
16 |
29,441,580 (GRCm38) |
missense |
|
|
|
R9622:Atp13a4
|
UTSW |
16 |
29,420,459 (GRCm38) |
missense |
|
|
|
R9727:Atp13a4
|
UTSW |
16 |
29,409,771 (GRCm38) |
missense |
|
|
|
Z1176:Atp13a4
|
UTSW |
16 |
29,422,587 (GRCm38) |
missense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTTTGACATGGACCGGGC -3'
(R):5'- GGCTCCATGACATTCATAGCTGTG -3'
Sequencing Primer
(F):5'- ACCGGGCGATCCTATTTCAAG -3'
(R):5'- CCATGACATTCATAGCTGTGTCTTGG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation