Incidental Mutation 'R9415:Atp13a4'
| ID |
712018 |
| 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 # |
R9415 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
29395853-29544864 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29409003 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 1012
(N1012S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060987
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057018]
[ENSMUST00000182013]
[ENSMUST00000182627]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000060987
Gene: ENSMUSG00000038094
AA Change: N1012S
| 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 benign
Transcript: ENSMUST00000182627
AA Change: N1031S
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000138479
Gene: ENSMUSG00000038094
AA Change: N1031S
| 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: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc1 |
A |
G |
2: 128,634,678 (GRCm38) |
M1340T |
probably benign |
Het |
| Arhgef15 |
A |
G |
11: 68,951,407 (GRCm38) |
L457P |
probably damaging |
Het |
| Arih2 |
A |
T |
9: 108,609,787 (GRCm38) |
C317S |
probably damaging |
Het |
| Asb14 |
A |
T |
14: 26,911,836 (GRCm38) |
T333S |
probably damaging |
Het |
| Capn9 |
C |
A |
8: 124,605,710 (GRCm38) |
D429E |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 86,033,085 (GRCm38) |
S229* |
probably null |
Het |
| Cntrob |
C |
T |
11: 69,302,915 (GRCm38) |
R803Q |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 30,810,323 (GRCm38) |
I4089V |
probably benign |
Het |
| Fam162b |
A |
G |
10: 51,590,059 (GRCm38) |
|
probably null |
Het |
| Fhod3 |
A |
G |
18: 24,969,187 (GRCm38) |
D180G |
probably damaging |
Het |
| Gtf3c4 |
A |
G |
2: 28,833,954 (GRCm38) |
S589P |
possibly damaging |
Het |
| Jcad |
T |
C |
18: 4,673,912 (GRCm38) |
L558P |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,839,705 (GRCm38) |
I5170T |
unknown |
Het |
| Lamb3 |
T |
C |
1: 193,326,011 (GRCm38) |
F251L |
probably benign |
Het |
| Lpxn |
T |
A |
19: 12,824,972 (GRCm38) |
D220E |
probably benign |
Het |
| Mex3a |
T |
A |
3: 88,537,173 (GRCm38) |
F519I |
probably damaging |
Het |
| Mfap1a |
T |
C |
2: 121,506,520 (GRCm38) |
M8V |
probably benign |
Het |
| Mical3 |
T |
A |
6: 120,957,751 (GRCm38) |
D1789V |
probably damaging |
Het |
| Mpdz |
G |
A |
4: 81,317,668 (GRCm38) |
Q1211* |
probably null |
Het |
| Myd88 |
A |
G |
9: 119,338,004 (GRCm38) |
|
probably null |
Het |
| Myof |
T |
A |
19: 37,952,964 (GRCm38) |
K799N |
probably damaging |
Het |
| Naip2 |
T |
A |
13: 100,161,735 (GRCm38) |
S598C |
probably damaging |
Het |
| Ndst4 |
C |
T |
3: 125,724,736 (GRCm38) |
S354L |
probably benign |
Het |
| Ntn4 |
A |
G |
10: 93,644,626 (GRCm38) |
T71A |
probably benign |
Het |
| Olfr392 |
A |
G |
11: 73,814,317 (GRCm38) |
I255T |
probably damaging |
Het |
| Olfr512 |
T |
A |
7: 108,713,835 (GRCm38) |
W161R |
probably damaging |
Het |
| Olfr683 |
T |
G |
7: 105,144,291 (GRCm38) |
M7L |
probably benign |
Het |
| Olfr863-ps1 |
A |
G |
9: 19,941,904 (GRCm38) |
W179R |
probably benign |
Het |
| Omd |
A |
C |
13: 49,592,361 (GRCm38) |
M416L |
probably benign |
Het |
| Oog1 |
G |
C |
12: 87,608,316 (GRCm38) |
L411F |
probably damaging |
Het |
| Pde4dip |
T |
C |
3: 97,753,152 (GRCm38) |
Q670R |
possibly damaging |
Het |
| Pex13 |
C |
A |
11: 23,651,034 (GRCm38) |
G272V |
probably damaging |
Het |
| Pfkl |
A |
T |
10: 77,988,247 (GRCm38) |
V769D |
probably damaging |
Het |
| Pkn3 |
A |
G |
2: 30,078,320 (GRCm38) |
Y10C |
probably benign |
Het |
| Pomgnt1 |
A |
G |
4: 116,156,181 (GRCm38) |
H500R |
probably damaging |
Het |
| Rasef |
T |
C |
4: 73,727,645 (GRCm38) |
T496A |
probably benign |
Het |
| Rgs6 |
A |
G |
12: 83,137,392 (GRCm38) |
S459G |
probably benign |
Het |
| Serpinb6b |
A |
T |
13: 32,975,019 (GRCm38) |
M187L |
|
Het |
| Shcbp1l |
A |
G |
1: 153,445,881 (GRCm38) |
I408M |
possibly damaging |
Het |
| Slc25a45 |
T |
C |
19: 5,884,939 (GRCm38) |
V272A |
probably damaging |
Het |
| Tlr4 |
T |
C |
4: 66,827,923 (GRCm38) |
|
probably null |
Het |
| Unc80 |
A |
T |
1: 66,510,905 (GRCm38) |
N774I |
|
Het |
| Urb2 |
T |
A |
8: 124,029,874 (GRCm38) |
S773R |
possibly damaging |
Het |
| Vmn1r35 |
A |
T |
6: 66,679,131 (GRCm38) |
V185E |
probably damaging |
Het |
| Vps13d |
A |
C |
4: 145,069,957 (GRCm38) |
V3691G |
|
Het |
| Wdtc1 |
A |
G |
4: 133,295,373 (GRCm38) |
V554A |
possibly damaging |
Het |
| Xrn1 |
A |
T |
9: 95,969,474 (GRCm38) |
M182L |
probably damaging |
Het |
| Zfp747 |
T |
C |
7: 127,374,026 (GRCm38) |
H324R |
possibly damaging |
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 |
|
|
|
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'- ACCTGCTCTAATGATCAGCAATGG -3'
(R):5'- ATGGTGGATGAACAGCTTAATGAAC -3'
Sequencing Primer
(F):5'- GCAATGGTTAATAATCGTCCCTCTG -3'
(R):5'- TGAACAGCTTAATGAACAAGTAGC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation