Incidental Mutation 'R0091:Atp13a4'
| ID |
20242 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp13a4
|
| Ensembl Gene |
ENSMUSG00000038094 |
| Gene Name |
ATPase type 13A4 |
| Synonyms |
4631413J11Rik, 9330174J19Rik |
| MMRRC Submission |
038378-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0091 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
16 |
| Chromosomal Location |
29214671-29363682 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29274213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 416
(Y416F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138479
(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: Y416F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048753
Gene: ENSMUSG00000038094
AA Change: Y416F
| 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 benign
Transcript: ENSMUST00000057018
|
| SMART Domains |
Protein: ENSMUSP00000060987
Gene: ENSMUSG00000038094
| 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 |
unknown
Transcript: ENSMUST00000182573
AA Change: Y54F
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182627
AA Change: Y416F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138479
Gene: ENSMUSG00000038094
AA Change: Y416F
| 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 |
|
| Meta Mutation Damage Score |
0.1304 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.9%
- 10x: 94.4%
- 20x: 84.5%
|
| Validation Efficiency |
98% (86/88) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,932,179 (GRCm39) |
S278P |
possibly damaging |
Het |
| Adam11 |
A |
G |
11: 102,663,665 (GRCm39) |
Y281C |
probably damaging |
Het |
| Adam6a |
G |
T |
12: 113,507,849 (GRCm39) |
R74L |
possibly damaging |
Het |
| Adcy5 |
T |
C |
16: 35,091,368 (GRCm39) |
|
probably null |
Het |
| Adrb2 |
A |
G |
18: 62,312,090 (GRCm39) |
L245P |
probably benign |
Het |
| Aebp2 |
T |
C |
6: 140,589,800 (GRCm39) |
|
probably null |
Het |
| Arhgap23 |
A |
G |
11: 97,343,070 (GRCm39) |
T240A |
probably benign |
Het |
| Atp10a |
T |
C |
7: 58,423,794 (GRCm39) |
|
probably benign |
Het |
| Atp5mc2 |
A |
C |
15: 102,571,492 (GRCm39) |
L133R |
probably damaging |
Het |
| Bicral |
A |
T |
17: 47,136,233 (GRCm39) |
Y326N |
probably damaging |
Het |
| Chst4 |
T |
C |
8: 110,757,297 (GRCm39) |
S189G |
probably damaging |
Het |
| Cnot1 |
A |
T |
8: 96,489,772 (GRCm39) |
I477N |
probably damaging |
Het |
| Col7a1 |
G |
T |
9: 108,796,574 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,415,301 (GRCm39) |
|
probably benign |
Het |
| Dcn |
A |
G |
10: 97,342,551 (GRCm39) |
N169S |
probably benign |
Het |
| Dnajc6 |
T |
C |
4: 101,473,974 (GRCm39) |
|
probably benign |
Het |
| Egln3 |
A |
G |
12: 54,228,432 (GRCm39) |
F225L |
probably benign |
Het |
| Erap1 |
G |
A |
13: 74,816,171 (GRCm39) |
R100Q |
possibly damaging |
Het |
| Erc2 |
A |
T |
14: 27,498,781 (GRCm39) |
|
probably null |
Het |
| Fto |
G |
A |
8: 92,168,435 (GRCm39) |
|
probably null |
Het |
| Gdap1l1 |
C |
T |
2: 163,288,011 (GRCm39) |
P80S |
probably damaging |
Het |
| Gm1123 |
T |
C |
9: 98,905,405 (GRCm39) |
E35G |
possibly damaging |
Het |
| Hhipl1 |
A |
G |
12: 108,288,156 (GRCm39) |
|
probably benign |
Het |
| Ift80 |
A |
T |
3: 68,822,008 (GRCm39) |
L679Q |
probably damaging |
Het |
| Il18 |
A |
G |
9: 50,488,013 (GRCm39) |
|
probably benign |
Het |
| Inhbb |
T |
C |
1: 119,345,125 (GRCm39) |
Y388C |
probably damaging |
Het |
| Kmt2d |
G |
T |
15: 98,742,360 (GRCm39) |
|
probably benign |
Het |
| Krt20 |
A |
G |
11: 99,328,640 (GRCm39) |
V95A |
probably damaging |
Het |
| Lck |
A |
T |
4: 129,449,474 (GRCm39) |
S274R |
possibly damaging |
Het |
| Lrp1 |
T |
A |
10: 127,376,848 (GRCm39) |
N4243I |
probably damaging |
Het |
| Lrrfip2 |
G |
A |
9: 111,043,311 (GRCm39) |
V506I |
probably damaging |
Het |
| Ltbp2 |
A |
G |
12: 84,840,507 (GRCm39) |
C1000R |
probably damaging |
Het |
| Matn3 |
G |
A |
12: 9,002,105 (GRCm39) |
D106N |
probably damaging |
Het |
| Mical2 |
A |
G |
7: 111,980,503 (GRCm39) |
E49G |
probably benign |
Het |
| Mmadhc |
A |
G |
2: 50,182,869 (GRCm39) |
S36P |
probably damaging |
Het |
| Morn1 |
T |
C |
4: 155,229,629 (GRCm39) |
Y433H |
probably damaging |
Het |
| Mpo |
A |
G |
11: 87,692,436 (GRCm39) |
M525V |
probably benign |
Het |
| Myo5a |
C |
T |
9: 75,068,774 (GRCm39) |
R659C |
probably damaging |
Het |
| Obox6 |
T |
C |
7: 15,568,364 (GRCm39) |
S171G |
probably benign |
Het |
| Or1j18 |
A |
G |
2: 36,624,917 (GRCm39) |
N195D |
probably damaging |
Het |
| Or4k36 |
T |
A |
2: 111,146,518 (GRCm39) |
D231E |
probably benign |
Het |
| Or5g29 |
A |
T |
2: 85,421,696 (GRCm39) |
N271Y |
probably benign |
Het |
| P2ry14 |
A |
G |
3: 59,023,314 (GRCm39) |
Y49H |
probably benign |
Het |
| Papss2 |
C |
T |
19: 32,611,302 (GRCm39) |
T17I |
possibly damaging |
Het |
| Pcid2 |
T |
C |
8: 13,135,392 (GRCm39) |
T206A |
probably benign |
Het |
| Pex6 |
A |
G |
17: 47,022,844 (GRCm39) |
E140G |
probably damaging |
Het |
| Ppp1r3b |
A |
G |
8: 35,851,821 (GRCm39) |
Y220C |
probably damaging |
Het |
| Prdx2 |
T |
G |
8: 85,698,330 (GRCm39) |
|
probably benign |
Het |
| Ptbp2 |
A |
T |
3: 119,514,310 (GRCm39) |
L471Q |
probably damaging |
Het |
| Rbm33 |
T |
A |
5: 28,557,604 (GRCm39) |
D232E |
possibly damaging |
Het |
| Rnf214 |
T |
A |
9: 45,809,791 (GRCm39) |
|
probably null |
Het |
| Rora |
G |
A |
9: 69,281,330 (GRCm39) |
R314H |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,168,095 (GRCm39) |
|
probably benign |
Het |
| Sag |
T |
C |
1: 87,742,402 (GRCm39) |
V58A |
probably damaging |
Het |
| Serpina3i |
C |
T |
12: 104,231,423 (GRCm39) |
T20M |
probably damaging |
Het |
| Slc4a5 |
A |
G |
6: 83,254,537 (GRCm39) |
N578S |
probably benign |
Het |
| Soat2 |
A |
G |
15: 102,066,574 (GRCm39) |
Y285C |
probably damaging |
Het |
| Syk |
A |
G |
13: 52,794,769 (GRCm39) |
Y478C |
probably damaging |
Het |
| Syne4 |
G |
A |
7: 30,018,344 (GRCm39) |
G362E |
probably damaging |
Het |
| Tas2r126 |
A |
T |
6: 42,412,036 (GRCm39) |
M190L |
probably benign |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Ttc19 |
A |
G |
11: 62,199,910 (GRCm39) |
D218G |
probably damaging |
Het |
| Tut1 |
T |
C |
19: 8,942,800 (GRCm39) |
V629A |
probably damaging |
Het |
| Txndc11 |
T |
C |
16: 10,905,968 (GRCm39) |
N521D |
probably benign |
Het |
| Ushbp1 |
T |
C |
8: 71,841,614 (GRCm39) |
E405G |
possibly damaging |
Het |
| Usp46 |
C |
T |
5: 74,163,918 (GRCm39) |
R246Q |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,610,948 (GRCm39) |
D469G |
probably damaging |
Het |
| Vmn2r104 |
T |
A |
17: 20,262,075 (GRCm39) |
I352F |
possibly damaging |
Het |
| Wdr4 |
G |
A |
17: 31,715,890 (GRCm39) |
T398I |
probably benign |
Het |
| Ythdc1 |
T |
A |
5: 86,968,560 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Atp13a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00563:Atp13a4
|
APN |
16 |
29,222,596 (GRCm39) |
splice site |
probably benign |
|
|
IGL01577:Atp13a4
|
APN |
16 |
29,260,102 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01834:Atp13a4
|
APN |
16 |
29,234,595 (GRCm39) |
splice site |
probably benign |
|
|
IGL02165:Atp13a4
|
APN |
16 |
29,252,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02194:Atp13a4
|
APN |
16 |
29,275,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02322:Atp13a4
|
APN |
16 |
29,258,920 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02553:Atp13a4
|
APN |
16 |
29,241,521 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02821:Atp13a4
|
APN |
16 |
29,260,125 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03349:Atp13a4
|
APN |
16 |
29,275,489 (GRCm39) |
missense |
probably benign |
0.01 |
|
G5030:Atp13a4
|
UTSW |
16 |
29,274,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0100:Atp13a4
|
UTSW |
16 |
29,240,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0278:Atp13a4
|
UTSW |
16 |
29,273,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1263:Atp13a4
|
UTSW |
16 |
29,290,771 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1378:Atp13a4
|
UTSW |
16 |
29,239,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1575:Atp13a4
|
UTSW |
16 |
29,228,528 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1720:Atp13a4
|
UTSW |
16 |
29,227,746 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1759:Atp13a4
|
UTSW |
16 |
29,275,429 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1967:Atp13a4
|
UTSW |
16 |
29,298,672 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2030:Atp13a4
|
UTSW |
16 |
29,241,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2113:Atp13a4
|
UTSW |
16 |
29,260,102 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3409:Atp13a4
|
UTSW |
16 |
29,232,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3410:Atp13a4
|
UTSW |
16 |
29,232,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4032:Atp13a4
|
UTSW |
16 |
29,237,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4163:Atp13a4
|
UTSW |
16 |
29,360,068 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4652:Atp13a4
|
UTSW |
16 |
29,271,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4772:Atp13a4
|
UTSW |
16 |
29,239,653 (GRCm39) |
intron |
probably benign |
|
|
R4795:Atp13a4
|
UTSW |
16 |
29,308,826 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4898:Atp13a4
|
UTSW |
16 |
29,227,779 (GRCm39) |
nonsense |
probably null |
|
|
R4996:Atp13a4
|
UTSW |
16 |
29,290,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5112:Atp13a4
|
UTSW |
16 |
29,228,686 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5259:Atp13a4
|
UTSW |
16 |
29,275,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5395:Atp13a4
|
UTSW |
16 |
29,275,422 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5395:Atp13a4
|
UTSW |
16 |
29,239,706 (GRCm39) |
nonsense |
probably null |
|
|
R5640:Atp13a4
|
UTSW |
16 |
29,234,649 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5809:Atp13a4
|
UTSW |
16 |
29,252,805 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5856:Atp13a4
|
UTSW |
16 |
29,252,805 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5912:Atp13a4
|
UTSW |
16 |
29,275,389 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6282:Atp13a4
|
UTSW |
16 |
29,252,822 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6404:Atp13a4
|
UTSW |
16 |
29,290,719 (GRCm39) |
nonsense |
probably null |
|
|
R6497:Atp13a4
|
UTSW |
16 |
29,298,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6577:Atp13a4
|
UTSW |
16 |
29,298,659 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6806:Atp13a4
|
UTSW |
16 |
29,288,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7229:Atp13a4
|
UTSW |
16 |
29,239,723 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7438:Atp13a4
|
UTSW |
16 |
29,260,014 (GRCm39) |
missense |
|
|
|
R7493:Atp13a4
|
UTSW |
16 |
29,290,774 (GRCm39) |
missense |
|
|
|
R7712:Atp13a4
|
UTSW |
16 |
29,278,305 (GRCm39) |
missense |
|
|
|
R7739:Atp13a4
|
UTSW |
16 |
29,275,419 (GRCm39) |
missense |
|
|
|
R7897:Atp13a4
|
UTSW |
16 |
29,215,284 (GRCm39) |
missense |
|
|
|
R7950:Atp13a4
|
UTSW |
16 |
29,268,735 (GRCm39) |
missense |
|
|
|
R8217:Atp13a4
|
UTSW |
16 |
29,222,619 (GRCm39) |
missense |
|
|
|
R8227:Atp13a4
|
UTSW |
16 |
29,222,663 (GRCm39) |
missense |
|
|
|
R8273:Atp13a4
|
UTSW |
16 |
29,290,720 (GRCm39) |
missense |
|
|
|
R8488:Atp13a4
|
UTSW |
16 |
29,236,654 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8508:Atp13a4
|
UTSW |
16 |
29,273,587 (GRCm39) |
nonsense |
probably null |
|
|
R8773:Atp13a4
|
UTSW |
16 |
29,260,398 (GRCm39) |
missense |
|
|
|
R8921:Atp13a4
|
UTSW |
16 |
29,273,592 (GRCm39) |
missense |
|
|
|
R8940:Atp13a4
|
UTSW |
16 |
29,273,508 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9056:Atp13a4
|
UTSW |
16 |
29,290,706 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9272:Atp13a4
|
UTSW |
16 |
29,268,797 (GRCm39) |
missense |
|
|
|
R9292:Atp13a4
|
UTSW |
16 |
29,241,500 (GRCm39) |
missense |
|
|
|
R9415:Atp13a4
|
UTSW |
16 |
29,227,821 (GRCm39) |
missense |
|
|
|
R9453:Atp13a4
|
UTSW |
16 |
29,239,659 (GRCm39) |
missense |
unknown |
|
|
R9497:Atp13a4
|
UTSW |
16 |
29,288,130 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9541:Atp13a4
|
UTSW |
16 |
29,241,544 (GRCm39) |
missense |
|
|
|
R9614:Atp13a4
|
UTSW |
16 |
29,260,398 (GRCm39) |
missense |
|
|
|
R9622:Atp13a4
|
UTSW |
16 |
29,239,277 (GRCm39) |
missense |
|
|
|
R9727:Atp13a4
|
UTSW |
16 |
29,228,589 (GRCm39) |
missense |
|
|
|
Z1176:Atp13a4
|
UTSW |
16 |
29,241,405 (GRCm39) |
missense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAACCAACTGCTCATAGGTGC -3'
(R):5'- GGCTCTGAGGAAGGTGATGCTATTC -3'
Sequencing Primer
(F):5'- TTGCAAACCACATCCTTGAATAAG -3'
(R):5'- ttgccaaaagagattgtgacc -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation