Incidental Mutation 'R8508:Atp13a4'
ID |
655725 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atp13a4
|
Ensembl Gene |
ENSMUSG00000038094 |
Gene Name |
ATPase type 13A4 |
Synonyms |
4631413J11Rik, 9330174J19Rik |
MMRRC Submission |
067844-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8508 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
29214671-29363682 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 29273587 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 444
(K444*)
|
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 |
probably null
Transcript: ENSMUST00000039090
AA Change: K463*
|
SMART Domains |
Protein: ENSMUSP00000048753 Gene: ENSMUSG00000038094 AA Change: K463*
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 null
Transcript: ENSMUST00000057018
AA Change: K444*
|
SMART Domains |
Protein: ENSMUSP00000060987 Gene: ENSMUSG00000038094 AA Change: K444*
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 null
Transcript: ENSMUST00000182573
AA Change: K101*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000182627
AA Change: K463*
|
SMART Domains |
Protein: ENSMUSP00000138479 Gene: ENSMUSG00000038094 AA Change: K463*
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: 99.5%
- 20x: 98.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932438H23Rik |
T |
G |
16: 90,852,500 (GRCm39) |
Y212S |
probably damaging |
Het |
Angpt1 |
T |
C |
15: 42,375,795 (GRCm39) |
N154D |
probably damaging |
Het |
Angpt2 |
G |
A |
8: 18,791,135 (GRCm39) |
R54* |
probably null |
Het |
Ankrd27 |
T |
A |
7: 35,301,051 (GRCm39) |
L117* |
probably null |
Het |
Arhgap21 |
C |
T |
2: 20,858,991 (GRCm39) |
M1234I |
probably benign |
Het |
Arhgef33 |
A |
G |
17: 80,674,764 (GRCm39) |
E387G |
probably damaging |
Het |
Atp6v1a |
G |
A |
16: 43,922,225 (GRCm39) |
R338C |
probably damaging |
Het |
Canx |
T |
C |
11: 50,202,474 (GRCm39) |
D44G |
possibly damaging |
Het |
Ccdc141 |
T |
A |
2: 76,962,588 (GRCm39) |
M119L |
probably benign |
Het |
Ckmt1 |
A |
C |
2: 121,193,172 (GRCm39) |
Q299P |
possibly damaging |
Het |
Dhx16 |
T |
C |
17: 36,196,812 (GRCm39) |
S601P |
probably damaging |
Het |
Dna2 |
A |
C |
10: 62,786,673 (GRCm39) |
R140S |
probably damaging |
Het |
Dock1 |
A |
G |
7: 134,384,138 (GRCm39) |
T670A |
probably benign |
Het |
Eif1ad10 |
T |
G |
12: 88,216,455 (GRCm39) |
E139A |
unknown |
Het |
Eogt |
A |
G |
6: 97,120,959 (GRCm39) |
S85P |
possibly damaging |
Het |
Fbf1 |
A |
T |
11: 116,056,707 (GRCm39) |
M1K |
probably null |
Het |
Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
Flnb |
G |
A |
14: 7,950,394 (GRCm38) |
V2571I |
probably damaging |
Het |
Gm43518 |
A |
G |
5: 124,076,322 (GRCm39) |
E123G |
unknown |
Het |
Gpatch2 |
A |
G |
1: 187,036,552 (GRCm39) |
N374S |
probably benign |
Het |
Hey1 |
G |
C |
3: 8,729,836 (GRCm39) |
A207G |
probably benign |
Het |
Hoxa11 |
T |
C |
6: 52,222,782 (GRCm39) |
|
probably benign |
Het |
Hydin |
G |
A |
8: 111,308,650 (GRCm39) |
V3979I |
probably benign |
Het |
Ighe |
C |
T |
12: 113,235,413 (GRCm39) |
W277* |
probably null |
Het |
Kmt2c |
G |
T |
5: 25,519,120 (GRCm39) |
T2330K |
probably benign |
Het |
Krt6a |
T |
A |
15: 101,601,170 (GRCm39) |
K261M |
probably damaging |
Het |
Lats2 |
A |
C |
14: 57,960,162 (GRCm39) |
S161A |
probably benign |
Het |
Med13l |
T |
A |
5: 118,892,386 (GRCm39) |
D1936E |
probably benign |
Het |
Mipol1 |
T |
C |
12: 57,352,874 (GRCm39) |
V71A |
possibly damaging |
Het |
Mphosph8 |
A |
T |
14: 56,914,003 (GRCm39) |
K415* |
probably null |
Het |
Npepps |
A |
G |
11: 97,135,252 (GRCm39) |
|
probably null |
Het |
Ntn4 |
A |
T |
10: 93,576,966 (GRCm39) |
N545Y |
possibly damaging |
Het |
Or11g1 |
A |
C |
14: 50,651,132 (GRCm39) |
M44L |
probably benign |
Het |
Or1n1b |
A |
G |
2: 36,780,366 (GRCm39) |
S165P |
probably damaging |
Het |
Or2m12 |
T |
C |
16: 19,105,451 (GRCm39) |
D14G |
probably benign |
Het |
Or9i2 |
A |
T |
19: 13,815,766 (GRCm39) |
M257K |
possibly damaging |
Het |
Osbpl2 |
T |
A |
2: 179,797,136 (GRCm39) |
V358E |
possibly damaging |
Het |
Pdcd11 |
C |
A |
19: 47,108,245 (GRCm39) |
P1204Q |
probably damaging |
Het |
Pnliprp2 |
A |
C |
19: 58,751,806 (GRCm39) |
S184R |
probably damaging |
Het |
Ppm1g |
G |
T |
5: 31,361,872 (GRCm39) |
R373S |
probably damaging |
Het |
Rnf130 |
A |
G |
11: 49,978,264 (GRCm39) |
D275G |
probably damaging |
Het |
Rps18-ps5 |
A |
G |
13: 28,441,694 (GRCm39) |
I26V |
probably benign |
Het |
Setd5 |
T |
C |
6: 113,098,048 (GRCm39) |
S696P |
probably damaging |
Het |
Sgip1 |
A |
G |
4: 102,772,268 (GRCm39) |
Q219R |
probably benign |
Het |
Slc1a2 |
T |
C |
2: 102,566,430 (GRCm39) |
|
probably null |
Het |
Slc22a12 |
T |
C |
19: 6,592,467 (GRCm39) |
T106A |
probably benign |
Het |
Slc22a14 |
A |
G |
9: 119,009,651 (GRCm39) |
L148P |
probably damaging |
Het |
Slc2a9 |
A |
T |
5: 38,539,421 (GRCm39) |
F375I |
probably damaging |
Het |
Sorbs3 |
A |
T |
14: 70,440,396 (GRCm39) |
D117E |
probably benign |
Het |
Spata31d1e |
A |
G |
13: 59,891,412 (GRCm39) |
L136P |
probably benign |
Het |
Sphkap |
G |
A |
1: 83,254,221 (GRCm39) |
T1176I |
probably damaging |
Het |
Supt16 |
A |
T |
14: 52,419,046 (GRCm39) |
V193D |
probably damaging |
Het |
Sytl3 |
A |
G |
17: 6,995,690 (GRCm39) |
T362A |
probably damaging |
Het |
Tctn1 |
T |
A |
5: 122,384,674 (GRCm39) |
Q410L |
probably benign |
Het |
Trbc2 |
T |
C |
6: 41,524,711 (GRCm39) |
Y133H |
|
Het |
Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
Vmn2r120 |
A |
G |
17: 57,832,843 (GRCm39) |
V112A |
probably benign |
Het |
Zfp354b |
A |
T |
11: 50,814,297 (GRCm39) |
S209R |
probably benign |
Het |
Zfp362 |
T |
C |
4: 128,668,399 (GRCm39) |
H391R |
probably damaging |
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 |
|
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 |
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'- TCAGATGCCTGTAACCTGCC -3'
(R):5'- TTGTAGCTATCAGACGAAGATCTCC -3'
Sequencing Primer
(F):5'- AGATGCCTGTAACCTGCCTATTAC -3'
(R):5'- TCTCCAAATGAAACGAGGTAGC -3'
|
Posted On |
2020-10-20 |