Incidental Mutation 'R9614:Atp13a4'
| ID |
724478 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a4
|
| Ensembl Gene |
ENSMUSG00000038094 |
| Gene Name |
ATPase type 13A4 |
| Synonyms |
9330174J19Rik, 4631413J11Rik |
| MMRRC Submission |
|
| Accession Numbers |
Genbank: NM_001164612, NM_172613, NM_001164613 |
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9614 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
29395853-29544864 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29441580 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 560
(V560A)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000039090
AA Change: V579A
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000048753
Gene: ENSMUSG00000038094
AA Change: V579A
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000060987
Gene: ENSMUSG00000038094
AA Change: V560A
| 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 benign
Transcript: ENSMUST00000182168
|
| Predicted Effect |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182627
AA Change: V579A
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000138479
Gene: ENSMUSG00000038094
AA Change: V579A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
C |
T |
19: 3,717,364 (GRCm38) |
T317I |
possibly damaging |
Het |
| Adamts7 |
T |
A |
9: 90,195,198 (GRCm38) |
V1306E |
probably damaging |
Het |
| Adcy9 |
C |
T |
16: 4,288,683 (GRCm38) |
D1093N |
probably damaging |
Het |
| Adgra3 |
A |
G |
5: 50,006,908 (GRCm38) |
V243A |
probably damaging |
Het |
| Aqp4 |
C |
T |
18: 15,393,630 (GRCm38) |
A265T |
probably benign |
Het |
| Atad2 |
A |
T |
15: 58,106,723 (GRCm38) |
|
probably null |
Het |
| Best2 |
A |
C |
8: 85,013,422 (GRCm38) |
C38G |
|
Het |
| Bicra |
A |
T |
7: 15,971,955 (GRCm38) |
S1520R |
probably damaging |
Het |
| C1s2 |
A |
G |
6: 124,625,629 (GRCm38) |
L541P |
probably damaging |
Het |
| Calcoco2 |
T |
A |
11: 96,100,359 (GRCm38) |
H184L |
probably benign |
Het |
| Cav1 |
A |
T |
6: 17,339,404 (GRCm38) |
I163F |
probably benign |
Het |
| Ccdc151 |
T |
C |
9: 21,993,014 (GRCm38) |
D322G |
probably benign |
Het |
| Cep57l1 |
T |
C |
10: 41,721,567 (GRCm38) |
H356R |
probably damaging |
Het |
| Clu |
A |
C |
14: 65,971,402 (GRCm38) |
H32P |
unknown |
Het |
| Col5a1 |
T |
A |
2: 27,989,174 (GRCm38) |
D840E |
unknown |
Het |
| Cramp1l |
C |
A |
17: 24,982,809 (GRCm38) |
K566N |
probably damaging |
Het |
| Csmd1 |
C |
A |
8: 16,158,225 (GRCm38) |
V1239L |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,478,134 (GRCm38) |
Q267L |
probably benign |
Het |
| Cul7 |
C |
T |
17: 46,664,286 (GRCm38) |
R1689W |
probably damaging |
Het |
| Dao |
A |
T |
5: 114,013,999 (GRCm38) |
D126V |
probably benign |
Het |
| Eif3l |
T |
C |
15: 79,094,223 (GRCm38) |
M560T |
probably benign |
Het |
| F830016B08Rik |
T |
A |
18: 60,300,307 (GRCm38) |
I154N |
probably damaging |
Het |
| Fam184a |
T |
C |
10: 53,641,048 (GRCm38) |
E980G |
probably damaging |
Het |
| Fgf21 |
T |
C |
7: 45,615,279 (GRCm38) |
T10A |
probably benign |
Het |
| Fhad1 |
A |
C |
4: 141,951,571 (GRCm38) |
V598G |
possibly damaging |
Het |
| Foxc1 |
A |
T |
13: 31,807,880 (GRCm38) |
I225F |
possibly damaging |
Het |
| Foxo3 |
C |
T |
10: 42,197,025 (GRCm38) |
V499M |
probably damaging |
Het |
| Galnt9 |
G |
A |
5: 110,596,181 (GRCm38) |
G294S |
probably damaging |
Het |
| Gp5 |
A |
C |
16: 30,309,575 (GRCm38) |
F94V |
probably damaging |
Het |
| Idh2 |
A |
T |
7: 80,098,177 (GRCm38) |
Y258* |
probably null |
Het |
| Immp2l |
T |
C |
12: 41,110,934 (GRCm38) |
V77A |
probably damaging |
Het |
| Isl1 |
T |
C |
13: 116,305,388 (GRCm38) |
E103G |
|
Het |
| Itgad |
A |
T |
7: 128,203,850 (GRCm38) |
T1059S |
probably damaging |
Het |
| Kcnj6 |
G |
A |
16: 94,832,448 (GRCm38) |
T268I |
probably damaging |
Het |
| Lgals3bp |
A |
G |
11: 118,393,211 (GRCm38) |
V514A |
probably benign |
Het |
| Mcfd2 |
A |
T |
17: 87,257,993 (GRCm38) |
H27Q |
probably benign |
Het |
| Mettl13 |
A |
G |
1: 162,537,200 (GRCm38) |
W537R |
probably damaging |
Het |
| Mybl2 |
G |
T |
2: 163,064,305 (GRCm38) |
G102V |
probably damaging |
Het |
| Nars2 |
C |
T |
7: 97,039,918 (GRCm38) |
T349M |
probably damaging |
Het |
| Nat8f3 |
A |
T |
6: 85,761,726 (GRCm38) |
V18E |
|
Het |
| Npepps |
T |
C |
11: 97,258,351 (GRCm38) |
E115G |
probably benign |
Het |
| Olfr1057 |
A |
G |
2: 86,374,668 (GRCm38) |
V248A |
probably damaging |
Het |
| Olfr1382 |
T |
A |
11: 49,535,244 (GRCm38) |
W20R |
probably damaging |
Het |
| Olfr834 |
A |
T |
9: 18,988,230 (GRCm38) |
M81L |
possibly damaging |
Het |
| Olfr926 |
G |
A |
9: 38,877,985 (GRCm38) |
V270M |
probably damaging |
Het |
| Oog2 |
T |
A |
4: 144,196,137 (GRCm38) |
V324E |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,375,400 (GRCm38) |
S1550P |
probably damaging |
Het |
| Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm38) |
|
probably benign |
Het |
| Pms2 |
T |
C |
5: 143,917,602 (GRCm38) |
V243A |
probably benign |
Het |
| Ptpn9 |
A |
G |
9: 57,036,721 (GRCm38) |
D293G |
probably benign |
Het |
| Ptprb |
A |
G |
10: 116,367,536 (GRCm38) |
K1784R |
probably damaging |
Het |
| Rab23 |
CAA |
CA |
1: 33,724,996 (GRCm38) |
|
probably null |
Het |
| Raf1 |
T |
C |
6: 115,619,636 (GRCm38) |
N576D |
probably benign |
Het |
| Rasa4 |
C |
A |
5: 136,111,489 (GRCm38) |
H782Q |
possibly damaging |
Het |
| Rims1 |
C |
A |
1: 22,421,745 (GRCm38) |
E168* |
probably null |
Het |
| Rpgrip1l |
A |
T |
8: 91,260,806 (GRCm38) |
N874K |
possibly damaging |
Het |
| Rxfp4 |
C |
T |
3: 88,652,662 (GRCm38) |
V161I |
possibly damaging |
Het |
| Scel |
G |
A |
14: 103,605,596 (GRCm38) |
G558D |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 125,469,826 (GRCm38) |
K723R |
probably null |
Het |
| Slc12a1 |
A |
T |
2: 125,160,525 (GRCm38) |
R142W |
probably damaging |
Het |
| Slc27a2 |
T |
A |
2: 126,567,816 (GRCm38) |
V306D |
probably damaging |
Het |
| Sox4 |
C |
T |
13: 28,952,096 (GRCm38) |
G309D |
probably damaging |
Het |
| Terb1 |
T |
C |
8: 104,496,844 (GRCm38) |
T111A |
probably benign |
Het |
| Tgfa |
G |
A |
6: 86,271,415 (GRCm38) |
R133H |
probably damaging |
Het |
| Ticrr |
T |
C |
7: 79,696,006 (GRCm38) |
S1836P |
probably damaging |
Het |
| Tlk2 |
A |
G |
11: 105,247,502 (GRCm38) |
D292G |
probably benign |
Het |
| Tmc7 |
A |
G |
7: 118,541,937 (GRCm38) |
I657T |
probably benign |
Het |
| Tmprss11c |
G |
A |
5: 86,235,520 (GRCm38) |
T349I |
probably benign |
Het |
| Trhr |
A |
G |
15: 44,197,585 (GRCm38) |
N167S |
probably benign |
Het |
| Tsc22d1 |
T |
G |
14: 76,416,543 (GRCm38) |
I154S |
probably damaging |
Het |
| Vmn1r2 |
T |
C |
4: 3,172,587 (GRCm38) |
Y169H |
probably damaging |
Het |
| Vmn1r77 |
G |
T |
7: 12,041,839 (GRCm38) |
V181L |
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 |
|
|
R4996:Atp13a4
|
UTSW |
16 |
29,472,004 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
|
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'- GTGGGAATTAACTGCCAGCC -3'
(R):5'- AGGCCTGTCAATATGCTGAG -3'
Sequencing Primer
(F):5'- GTCCCTGTTTTACCAGATGCAGAAG -3'
(R):5'- CCTGTCAATATGCTGAGGTGGTTG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation