Incidental Mutation 'R5259:Atp13a4'
ID |
401327 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp13a4
|
Ensembl Gene |
ENSMUSG00000038094 |
Gene Name |
ATPase type 13A4 |
Synonyms |
4631413J11Rik, 9330174J19Rik |
MMRRC Submission |
042856-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5259 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
29214671-29363682 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 29275428 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 352
(T352M)
|
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: T352M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000048753 Gene: ENSMUSG00000038094 AA Change: T352M
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: T352M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000060987 Gene: ENSMUSG00000038094 AA Change: T352M
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: ENSMUST00000182573
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000182627
AA Change: T352M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138479 Gene: ENSMUSG00000038094 AA Change: T352M
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
100% (68/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd18 |
A |
C |
3: 40,871,325 (GRCm39) |
T50P |
probably damaging |
Het |
Adam5 |
T |
A |
8: 25,300,850 (GRCm39) |
L226F |
possibly damaging |
Het |
Adi1 |
T |
C |
12: 28,725,544 (GRCm39) |
|
probably benign |
Het |
Apc |
T |
C |
18: 34,447,343 (GRCm39) |
V1379A |
probably benign |
Het |
Baat |
T |
A |
4: 49,490,070 (GRCm39) |
N338I |
probably benign |
Het |
Bdnf |
A |
G |
2: 109,554,327 (GRCm39) |
T234A |
probably benign |
Het |
Catsperd |
A |
C |
17: 56,967,235 (GRCm39) |
T539P |
possibly damaging |
Het |
Cd109 |
A |
T |
9: 78,617,434 (GRCm39) |
T1311S |
probably benign |
Het |
Ceacam18 |
T |
C |
7: 43,286,536 (GRCm39) |
|
probably null |
Het |
Cfap96 |
T |
C |
8: 46,415,373 (GRCm39) |
E211G |
probably benign |
Het |
Cfhr4 |
C |
T |
1: 139,668,233 (GRCm39) |
C300Y |
probably damaging |
Het |
Chsy3 |
T |
A |
18: 59,543,318 (GRCm39) |
S819T |
probably damaging |
Het |
Col4a4 |
G |
T |
1: 82,431,614 (GRCm39) |
R1557S |
unknown |
Het |
Ddx18 |
A |
G |
1: 121,495,518 (GRCm39) |
|
probably null |
Het |
Depdc5 |
C |
T |
5: 33,095,635 (GRCm39) |
P824L |
probably damaging |
Het |
Fam13c |
C |
G |
10: 70,276,893 (GRCm39) |
A17G |
probably benign |
Het |
Fermt1 |
T |
C |
2: 132,748,685 (GRCm39) |
Y646C |
probably damaging |
Het |
Fra10ac1 |
A |
G |
19: 38,188,110 (GRCm39) |
S229P |
probably benign |
Het |
Gbp8 |
A |
T |
5: 105,198,845 (GRCm39) |
H23Q |
probably benign |
Het |
Gdf2 |
T |
C |
14: 33,666,788 (GRCm39) |
V170A |
probably benign |
Het |
Gm15723 |
T |
C |
10: 114,652,722 (GRCm39) |
|
noncoding transcript |
Het |
Gm815 |
G |
A |
19: 26,863,806 (GRCm39) |
V16I |
unknown |
Het |
Ighv1-75 |
T |
A |
12: 115,797,797 (GRCm39) |
K42* |
probably null |
Het |
Isx |
A |
G |
8: 75,619,473 (GRCm39) |
T222A |
probably benign |
Het |
Itgax |
G |
A |
7: 127,747,450 (GRCm39) |
D1018N |
probably damaging |
Het |
Kcnc4 |
A |
G |
3: 107,355,401 (GRCm39) |
F349S |
probably damaging |
Het |
Lama3 |
A |
C |
18: 12,598,565 (GRCm39) |
S991R |
probably damaging |
Het |
Larp4b |
C |
T |
13: 9,208,220 (GRCm39) |
A398V |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,670,357 (GRCm39) |
N1466S |
probably benign |
Het |
Metrn |
A |
T |
17: 26,015,514 (GRCm39) |
L67Q |
probably damaging |
Het |
Morc1 |
G |
A |
16: 48,451,132 (GRCm39) |
R937Q |
probably benign |
Het |
Mta3 |
A |
G |
17: 84,112,003 (GRCm39) |
Y577C |
probably damaging |
Het |
Nalcn |
A |
G |
14: 123,753,063 (GRCm39) |
F308L |
possibly damaging |
Het |
Nat8 |
A |
T |
6: 85,807,873 (GRCm39) |
S87T |
probably benign |
Het |
Oplah |
A |
T |
15: 76,185,410 (GRCm39) |
|
probably null |
Het |
Or2ak6 |
A |
G |
11: 58,592,778 (GRCm39) |
N84D |
probably benign |
Het |
Or2ak6 |
A |
C |
11: 58,592,779 (GRCm39) |
N84T |
possibly damaging |
Het |
Or7e166 |
A |
G |
9: 19,624,109 (GRCm39) |
|
probably null |
Het |
Pcdh15 |
A |
T |
10: 74,232,204 (GRCm39) |
I668L |
possibly damaging |
Het |
Pecr |
A |
G |
1: 72,316,444 (GRCm39) |
|
probably null |
Het |
Plxna4 |
T |
C |
6: 32,493,956 (GRCm39) |
E220G |
possibly damaging |
Het |
Pnma8b |
A |
G |
7: 16,679,199 (GRCm39) |
K61R |
unknown |
Het |
Prl8a6 |
C |
T |
13: 27,620,179 (GRCm39) |
W81* |
probably null |
Het |
Rab33b |
C |
T |
3: 51,392,033 (GRCm39) |
|
probably benign |
Het |
Rbm33 |
T |
A |
5: 28,557,772 (GRCm39) |
|
probably null |
Het |
Relch |
A |
G |
1: 105,649,101 (GRCm39) |
S747G |
probably benign |
Het |
Reln |
C |
T |
5: 22,308,395 (GRCm39) |
V325M |
possibly damaging |
Het |
Rheb |
A |
C |
5: 25,008,743 (GRCm39) |
D158E |
probably benign |
Het |
Rhebl1 |
T |
A |
15: 98,778,464 (GRCm39) |
|
probably benign |
Het |
Rmdn2 |
T |
A |
17: 79,975,446 (GRCm39) |
Y312N |
probably damaging |
Het |
Scamp1 |
T |
G |
13: 94,368,594 (GRCm39) |
N58T |
probably benign |
Het |
Semp2l1 |
A |
T |
1: 32,584,598 (GRCm39) |
C437* |
probably null |
Het |
Slc35a1 |
C |
T |
4: 34,683,322 (GRCm39) |
V53M |
probably benign |
Het |
Slc35f3 |
A |
T |
8: 127,115,872 (GRCm39) |
L266F |
probably damaging |
Het |
Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
Ticrr |
T |
A |
7: 79,344,471 (GRCm39) |
S1445R |
probably benign |
Het |
Ttc23l |
T |
C |
15: 10,515,236 (GRCm39) |
N381D |
probably damaging |
Het |
Usp17ld |
T |
A |
7: 102,899,781 (GRCm39) |
K384* |
probably null |
Het |
Vmn1r20 |
T |
A |
6: 57,409,050 (GRCm39) |
Y125* |
probably null |
Het |
Zfp738 |
G |
T |
13: 67,817,805 (GRCm39) |
Q729K |
probably benign |
Het |
Zfp770 |
T |
A |
2: 114,027,674 (GRCm39) |
M132L |
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 |
R0091:Atp13a4
|
UTSW |
16 |
29,274,213 (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 |
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'- TTACTGAGATGCACAGGCCAC -3'
(R):5'- GATTTGCACAGGAAAGGCAC -3'
Sequencing Primer
(F):5'- CACAGACTTACATGTATTTGTGGTGC -3'
(R):5'- CTCCACCCCACAAAGTAAGATTG -3'
|
Posted On |
2016-07-06 |