Incidental Mutation 'R5640:Atp13a4'
ID |
440636 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp13a4
|
Ensembl Gene |
ENSMUSG00000038094 |
Gene Name |
ATPase type 13A4 |
Synonyms |
4631413J11Rik, 9330174J19Rik |
MMRRC Submission |
043289-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5640 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
29214671-29363682 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 29234649 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 908
(M908I)
|
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 benign
Transcript: ENSMUST00000039090
|
SMART Domains |
Protein: ENSMUSP00000048753 Gene: ENSMUSG00000038094
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 |
unknown
Transcript: ENSMUST00000057018
AA Change: M889I
|
SMART Domains |
Protein: ENSMUSP00000060987 Gene: ENSMUSG00000038094 AA Change: M889I
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 |
noncoding transcript
Transcript: ENSMUST00000182357
|
Predicted Effect |
unknown
Transcript: ENSMUST00000182573
AA Change: M546I
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000182627
AA Change: M908I
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000138479 Gene: ENSMUSG00000038094 AA Change: M908I
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: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace |
A |
G |
11: 105,861,511 (GRCm39) |
Y220C |
probably damaging |
Het |
Actl6a |
A |
G |
3: 32,772,199 (GRCm39) |
T170A |
probably damaging |
Het |
Adamts8 |
T |
C |
9: 30,867,796 (GRCm39) |
V540A |
probably benign |
Het |
Aga |
T |
C |
8: 53,964,919 (GRCm39) |
L27P |
probably damaging |
Het |
Agmat |
T |
A |
4: 141,483,134 (GRCm39) |
H189Q |
probably damaging |
Het |
Alx3 |
C |
A |
3: 107,507,977 (GRCm39) |
T162K |
probably damaging |
Het |
Armc2 |
T |
A |
10: 41,887,894 (GRCm39) |
I30L |
possibly damaging |
Het |
Atp10d |
T |
G |
5: 72,404,552 (GRCm39) |
Y487D |
probably damaging |
Het |
B4galt2 |
T |
G |
4: 117,731,195 (GRCm39) |
N322T |
probably benign |
Het |
Bmal1 |
C |
T |
7: 112,907,888 (GRCm39) |
P530L |
probably damaging |
Het |
Brdt |
A |
T |
5: 107,507,174 (GRCm39) |
K525* |
probably null |
Het |
Ccdc168 |
T |
C |
1: 44,101,087 (GRCm39) |
I4V |
probably benign |
Het |
Ces3a |
T |
A |
8: 105,778,377 (GRCm39) |
M246K |
probably benign |
Het |
Chd9 |
T |
A |
8: 91,763,190 (GRCm39) |
H2338Q |
probably damaging |
Het |
Cyp3a16 |
T |
A |
5: 145,389,633 (GRCm39) |
D244V |
possibly damaging |
Het |
Dhrs9 |
C |
A |
2: 69,224,822 (GRCm39) |
A170E |
probably damaging |
Het |
Dlg5 |
T |
C |
14: 24,220,529 (GRCm39) |
N550D |
probably damaging |
Het |
Dnah8 |
C |
T |
17: 31,022,082 (GRCm39) |
T3894I |
probably damaging |
Het |
Dpys |
T |
C |
15: 39,705,462 (GRCm39) |
H217R |
probably damaging |
Het |
Dpysl2 |
C |
T |
14: 67,071,817 (GRCm39) |
V108I |
probably benign |
Het |
Eprs1 |
A |
G |
1: 185,106,381 (GRCm39) |
T199A |
probably benign |
Het |
Fads1 |
A |
G |
19: 10,163,767 (GRCm39) |
D183G |
probably damaging |
Het |
Fam110b |
T |
G |
4: 5,798,689 (GRCm39) |
Y36D |
probably damaging |
Het |
Fbxl21 |
G |
A |
13: 56,685,194 (GRCm39) |
D407N |
probably benign |
Het |
Fuca2 |
G |
A |
10: 13,383,174 (GRCm39) |
|
probably null |
Het |
Gnas |
C |
A |
2: 174,126,764 (GRCm39) |
R100S |
probably benign |
Het |
Gse1 |
A |
G |
8: 121,289,416 (GRCm39) |
H90R |
possibly damaging |
Het |
Hoxc10 |
G |
T |
15: 102,875,702 (GRCm39) |
C137F |
probably benign |
Het |
Ipp |
T |
G |
4: 116,377,886 (GRCm39) |
L252R |
possibly damaging |
Het |
Jmjd1c |
T |
A |
10: 67,061,857 (GRCm39) |
S1403R |
probably benign |
Het |
Kif19a |
A |
G |
11: 114,670,041 (GRCm39) |
M79V |
probably benign |
Het |
Lipo4 |
T |
C |
19: 33,478,986 (GRCm39) |
T285A |
possibly damaging |
Het |
Lrrc66 |
A |
T |
5: 73,765,977 (GRCm39) |
D355E |
probably benign |
Het |
Lrsam1 |
T |
A |
2: 32,835,864 (GRCm39) |
Q301L |
probably benign |
Het |
Med6 |
C |
T |
12: 81,628,628 (GRCm39) |
R138Q |
probably damaging |
Het |
Nlrc5 |
A |
G |
8: 95,202,421 (GRCm39) |
T174A |
probably benign |
Het |
Nrbp1 |
C |
T |
5: 31,406,929 (GRCm39) |
R322W |
possibly damaging |
Het |
Or10ak14 |
T |
A |
4: 118,610,986 (GRCm39) |
T250S |
probably benign |
Het |
Or11g24 |
C |
A |
14: 50,662,111 (GRCm39) |
A45D |
probably benign |
Het |
Or4a47 |
T |
A |
2: 89,666,282 (GRCm39) |
E2D |
probably benign |
Het |
Pde3a |
A |
G |
6: 141,429,641 (GRCm39) |
E734G |
probably damaging |
Het |
Pgap6 |
C |
T |
17: 26,337,846 (GRCm39) |
T410I |
possibly damaging |
Het |
Pnpla7 |
C |
T |
2: 24,893,013 (GRCm39) |
T167I |
possibly damaging |
Het |
Pop7 |
T |
C |
5: 137,500,321 (GRCm39) |
N4S |
possibly damaging |
Het |
Ppm1h |
C |
A |
10: 122,618,183 (GRCm39) |
P114Q |
probably benign |
Het |
Prdm16 |
T |
C |
4: 154,426,367 (GRCm39) |
T473A |
probably benign |
Het |
Prdm6 |
T |
C |
18: 53,669,813 (GRCm39) |
|
probably null |
Het |
Prkdc |
T |
G |
16: 15,647,633 (GRCm39) |
W3686G |
possibly damaging |
Het |
Ptchd4 |
C |
A |
17: 42,814,026 (GRCm39) |
H642Q |
possibly damaging |
Het |
Rad1 |
A |
G |
15: 10,496,009 (GRCm39) |
Y228C |
possibly damaging |
Het |
Rgs22 |
G |
A |
15: 36,107,101 (GRCm39) |
T56I |
probably benign |
Het |
Rnf135 |
C |
A |
11: 80,084,733 (GRCm39) |
H169N |
probably benign |
Het |
Rnft1 |
C |
T |
11: 86,377,319 (GRCm39) |
Q128* |
probably null |
Het |
Sez6 |
T |
C |
11: 77,864,585 (GRCm39) |
|
probably benign |
Het |
Sh3rf3 |
A |
G |
10: 58,649,769 (GRCm39) |
S125G |
probably benign |
Het |
Sik2 |
T |
C |
9: 50,826,806 (GRCm39) |
E295G |
possibly damaging |
Het |
Themis |
A |
G |
10: 28,739,372 (GRCm39) |
Q614R |
probably damaging |
Het |
Thsd7b |
T |
A |
1: 130,044,408 (GRCm39) |
C1129* |
probably null |
Het |
Tmem68 |
A |
T |
4: 3,569,512 (GRCm39) |
F59L |
probably benign |
Het |
Vmn2r107 |
A |
G |
17: 20,595,426 (GRCm39) |
T660A |
probably damaging |
Het |
Vwa5b2 |
G |
T |
16: 20,416,292 (GRCm39) |
C484F |
probably damaging |
Het |
Zfp418 |
T |
A |
7: 7,184,980 (GRCm39) |
C314* |
probably null |
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 |
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 |
|
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'- TGCAGGTCCATCTAGTCCTGAC -3'
(R):5'- TCAAGGCTGTGCACAGTTG -3'
Sequencing Primer
(F):5'- ATCTAGTCCTGACTTATTTTGTGAGC -3'
(R):5'- GCTGTGCACAGTTGGAGAC -3'
|
Posted On |
2016-11-08 |