Incidental Mutation 'R6856:Atad2'
| ID |
535278 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atad2
|
| Ensembl Gene |
ENSMUSG00000022360 |
| Gene Name |
ATPase family, AAA domain containing 2 |
| Synonyms |
2610509G12Rik |
| MMRRC Submission |
044958-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.299)
|
| Stock # |
R6856 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
57957440-57998478 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57970209 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 464
(H464L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038194]
[ENSMUST00000228783]
|
| AlphaFold |
Q8CDM1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038194
AA Change: H788L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000043691
Gene: ENSMUSG00000022360
AA Change: H788L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
184 |
199 |
N/A |
INTRINSIC |
|
low complexity region
|
237 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
349 |
N/A |
INTRINSIC |
|
AAA
|
438 |
579 |
9.93e-21 |
SMART |
|
low complexity region
|
622 |
633 |
N/A |
INTRINSIC |
|
SCOP:d1e32a2
|
751 |
912 |
5e-4 |
SMART |
|
low complexity region
|
924 |
947 |
N/A |
INTRINSIC |
|
BROMO
|
955 |
1067 |
1.2e-19 |
SMART |
|
low complexity region
|
1213 |
1235 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228783
AA Change: H464L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A large family of ATPases has been described, whose key feature is that they share a conserved region of about 220 amino acids that contains an ATP-binding site. The proteins that belong to this family either contain one or two AAA (ATPases Associated with diverse cellular Activities) domains. AAA family proteins often perform chaperone-like functions that assist in the assembly, operation, or disassembly of protein complexes. The protein encoded by this gene contains two AAA domains, as well as a bromodomain. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
A |
G |
3: 151,205,755 (GRCm39) |
M156V |
probably benign |
Het |
| Aire |
A |
T |
10: 77,866,089 (GRCm39) |
F546I |
probably damaging |
Het |
| Ankk1 |
T |
C |
9: 49,331,320 (GRCm39) |
E230G |
probably benign |
Het |
| Anp32a |
A |
T |
9: 62,279,397 (GRCm39) |
K86N |
possibly damaging |
Het |
| Aqp4 |
T |
C |
18: 15,532,953 (GRCm39) |
I47V |
possibly damaging |
Het |
| Arap3 |
A |
G |
18: 38,112,916 (GRCm39) |
V1098A |
possibly damaging |
Het |
| Ascc3 |
T |
A |
10: 50,625,158 (GRCm39) |
W1652R |
probably damaging |
Het |
| Brca2 |
C |
A |
5: 150,463,673 (GRCm39) |
H1146N |
possibly damaging |
Het |
| Capn9 |
G |
A |
8: 125,324,308 (GRCm39) |
V203M |
probably damaging |
Het |
| Ccr6 |
T |
A |
17: 8,474,881 (GRCm39) |
S29T |
probably benign |
Het |
| Cfap99 |
G |
T |
5: 34,467,561 (GRCm39) |
|
probably null |
Het |
| Cpt1c |
C |
T |
7: 44,609,342 (GRCm39) |
G716S |
probably damaging |
Het |
| Dhx29 |
A |
T |
13: 113,089,395 (GRCm39) |
Q722L |
probably benign |
Het |
| Dmxl1 |
C |
T |
18: 49,985,355 (GRCm39) |
R201* |
probably null |
Het |
| Dsg2 |
G |
A |
18: 20,734,859 (GRCm39) |
G946S |
probably damaging |
Het |
| Erg |
C |
A |
16: 95,169,510 (GRCm39) |
|
probably null |
Het |
| Fbxo32 |
G |
A |
15: 58,078,037 (GRCm39) |
|
probably benign |
Het |
| Gask1b |
G |
T |
3: 79,793,448 (GRCm39) |
|
probably benign |
Het |
| Glis1 |
T |
G |
4: 107,293,076 (GRCm39) |
D66E |
probably damaging |
Het |
| Grm6 |
A |
T |
11: 50,750,652 (GRCm39) |
N605I |
probably damaging |
Het |
| Gtf3c6 |
T |
C |
10: 40,125,668 (GRCm39) |
E183G |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,305,180 (GRCm39) |
M861V |
probably benign |
Het |
| Igkv12-41 |
A |
T |
6: 69,835,513 (GRCm39) |
S80T |
probably damaging |
Het |
| Itprid2 |
C |
T |
2: 79,488,049 (GRCm39) |
R711C |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,523,742 (GRCm39) |
S1057P |
probably damaging |
Het |
| Krt36 |
T |
G |
11: 99,994,216 (GRCm39) |
Q287P |
probably damaging |
Het |
| Ldhd |
A |
G |
8: 112,356,906 (GRCm39) |
S13P |
probably benign |
Het |
| Lmtk3 |
T |
A |
7: 45,443,721 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,343,612 (GRCm39) |
F916I |
probably damaging |
Het |
| Map4k1 |
A |
T |
7: 28,686,259 (GRCm39) |
I92F |
probably damaging |
Het |
| Naa25 |
A |
T |
5: 121,576,867 (GRCm39) |
K872M |
probably damaging |
Het |
| Nek3 |
C |
A |
8: 22,619,463 (GRCm39) |
G443V |
probably damaging |
Het |
| Noxred1 |
T |
C |
12: 87,273,810 (GRCm39) |
E77G |
probably benign |
Het |
| Nup210 |
G |
A |
6: 91,064,895 (GRCm39) |
Q202* |
probably null |
Het |
| Or52d1 |
A |
T |
7: 103,755,998 (GRCm39) |
M171L |
probably benign |
Het |
| Or8k27 |
G |
T |
2: 86,276,251 (GRCm39) |
S25Y |
probably benign |
Het |
| Pax3 |
A |
G |
1: 78,109,056 (GRCm39) |
S201P |
probably damaging |
Het |
| Pcdhgb5 |
T |
A |
18: 37,866,457 (GRCm39) |
Y751N |
probably benign |
Het |
| Pign |
A |
T |
1: 105,481,620 (GRCm39) |
L792* |
probably null |
Het |
| Pkd1 |
T |
C |
17: 24,792,467 (GRCm39) |
F1385L |
probably benign |
Het |
| Plxnb2 |
A |
C |
15: 89,048,523 (GRCm39) |
C629G |
probably benign |
Het |
| Prpsap2 |
A |
T |
11: 61,621,097 (GRCm39) |
I328N |
probably benign |
Het |
| Prrc2c |
A |
G |
1: 162,509,940 (GRCm39) |
L2317P |
probably damaging |
Het |
| Ptgfrn |
T |
C |
3: 100,952,762 (GRCm39) |
D824G |
probably damaging |
Het |
| Ptpra |
G |
A |
2: 130,361,301 (GRCm39) |
S204N |
probably damaging |
Het |
| Pygm |
G |
T |
19: 6,443,787 (GRCm39) |
G583C |
probably damaging |
Het |
| Rap1a |
A |
G |
3: 105,639,384 (GRCm39) |
F92L |
probably damaging |
Het |
| Slmap |
A |
T |
14: 26,151,247 (GRCm39) |
|
probably null |
Het |
| Spdye4c |
A |
G |
2: 128,438,050 (GRCm39) |
|
probably null |
Het |
| Speer4a3 |
A |
G |
5: 26,155,843 (GRCm39) |
I167T |
probably benign |
Het |
| Stk11 |
C |
A |
10: 79,963,924 (GRCm39) |
F97L |
probably benign |
Het |
| Tbc1d9b |
G |
A |
11: 50,059,573 (GRCm39) |
A992T |
probably benign |
Het |
| Tmem232 |
G |
A |
17: 65,757,305 (GRCm39) |
T296M |
possibly damaging |
Het |
| Trim33 |
C |
T |
3: 103,259,365 (GRCm39) |
T1018M |
probably damaging |
Het |
| Trpv2 |
A |
C |
11: 62,475,441 (GRCm39) |
I285L |
probably benign |
Het |
| Usp46 |
A |
G |
5: 74,189,595 (GRCm39) |
|
probably benign |
Het |
| Vmn1r27 |
T |
A |
6: 58,192,432 (GRCm39) |
M191L |
possibly damaging |
Het |
| Vwf |
G |
T |
6: 125,619,113 (GRCm39) |
E1264* |
probably null |
Het |
| Zfp109 |
A |
T |
7: 23,928,823 (GRCm39) |
N195K |
probably benign |
Het |
| Zfp385b |
T |
A |
2: 77,246,138 (GRCm39) |
L208F |
probably damaging |
Het |
| Zfp839 |
T |
A |
12: 110,833,195 (GRCm39) |
Y515* |
probably null |
Het |
|
| Other mutations in Atad2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00498:Atad2
|
APN |
15 |
57,980,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00556:Atad2
|
APN |
15 |
57,963,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00674:Atad2
|
APN |
15 |
57,971,782 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL01407:Atad2
|
APN |
15 |
57,967,921 (GRCm39) |
missense |
probably benign |
|
|
IGL02557:Atad2
|
APN |
15 |
57,985,993 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03060:Atad2
|
APN |
15 |
57,985,842 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03308:Atad2
|
APN |
15 |
57,965,919 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0113:Atad2
|
UTSW |
15 |
57,984,330 (GRCm39) |
unclassified |
probably benign |
|
|
R0195:Atad2
|
UTSW |
15 |
57,963,350 (GRCm39) |
splice site |
probably benign |
|
|
R0310:Atad2
|
UTSW |
15 |
57,977,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0499:Atad2
|
UTSW |
15 |
57,984,345 (GRCm39) |
missense |
probably benign |
|
|
R0499:Atad2
|
UTSW |
15 |
57,966,636 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0564:Atad2
|
UTSW |
15 |
57,989,229 (GRCm39) |
splice site |
probably benign |
|
|
R0578:Atad2
|
UTSW |
15 |
57,968,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0581:Atad2
|
UTSW |
15 |
57,990,060 (GRCm39) |
missense |
probably benign |
|
|
R0667:Atad2
|
UTSW |
15 |
57,962,115 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0697:Atad2
|
UTSW |
15 |
57,968,939 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1219:Atad2
|
UTSW |
15 |
57,998,307 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1271:Atad2
|
UTSW |
15 |
57,989,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1544:Atad2
|
UTSW |
15 |
57,966,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1624:Atad2
|
UTSW |
15 |
57,963,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1853:Atad2
|
UTSW |
15 |
57,960,685 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1854:Atad2
|
UTSW |
15 |
57,960,685 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1855:Atad2
|
UTSW |
15 |
57,960,685 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1860:Atad2
|
UTSW |
15 |
57,960,114 (GRCm39) |
splice site |
probably null |
|
|
R1861:Atad2
|
UTSW |
15 |
57,960,114 (GRCm39) |
splice site |
probably null |
|
|
R1876:Atad2
|
UTSW |
15 |
57,970,264 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1938:Atad2
|
UTSW |
15 |
57,960,101 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2158:Atad2
|
UTSW |
15 |
57,961,962 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3756:Atad2
|
UTSW |
15 |
57,963,119 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4256:Atad2
|
UTSW |
15 |
57,980,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4762:Atad2
|
UTSW |
15 |
57,971,758 (GRCm39) |
missense |
probably benign |
|
|
R4827:Atad2
|
UTSW |
15 |
57,971,744 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4838:Atad2
|
UTSW |
15 |
57,966,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5238:Atad2
|
UTSW |
15 |
57,971,733 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5247:Atad2
|
UTSW |
15 |
57,967,874 (GRCm39) |
nonsense |
probably null |
|
|
R5685:Atad2
|
UTSW |
15 |
57,980,194 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5790:Atad2
|
UTSW |
15 |
57,989,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5813:Atad2
|
UTSW |
15 |
57,963,250 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5886:Atad2
|
UTSW |
15 |
57,961,910 (GRCm39) |
nonsense |
probably null |
|
|
R5955:Atad2
|
UTSW |
15 |
57,969,055 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6034:Atad2
|
UTSW |
15 |
57,971,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6034:Atad2
|
UTSW |
15 |
57,971,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6111:Atad2
|
UTSW |
15 |
57,971,487 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6209:Atad2
|
UTSW |
15 |
57,981,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6587:Atad2
|
UTSW |
15 |
57,984,444 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7106:Atad2
|
UTSW |
15 |
57,980,162 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7178:Atad2
|
UTSW |
15 |
57,980,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7290:Atad2
|
UTSW |
15 |
57,962,047 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7421:Atad2
|
UTSW |
15 |
57,998,322 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7583:Atad2
|
UTSW |
15 |
57,990,060 (GRCm39) |
missense |
probably benign |
|
|
R7861:Atad2
|
UTSW |
15 |
57,989,176 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7886:Atad2
|
UTSW |
15 |
57,989,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8072:Atad2
|
UTSW |
15 |
57,963,374 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8126:Atad2
|
UTSW |
15 |
57,968,987 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8845:Atad2
|
UTSW |
15 |
57,989,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9027:Atad2
|
UTSW |
15 |
57,995,628 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9079:Atad2
|
UTSW |
15 |
57,989,223 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9161:Atad2
|
UTSW |
15 |
57,989,185 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9209:Atad2
|
UTSW |
15 |
57,980,194 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9266:Atad2
|
UTSW |
15 |
57,985,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9306:Atad2
|
UTSW |
15 |
57,959,994 (GRCm39) |
nonsense |
probably null |
|
|
R9546:Atad2
|
UTSW |
15 |
57,989,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9547:Atad2
|
UTSW |
15 |
57,989,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9614:Atad2
|
UTSW |
15 |
57,970,119 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9655:Atad2
|
UTSW |
15 |
57,998,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9663:Atad2
|
UTSW |
15 |
57,971,540 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAAGTTTGCTGGGCATGG -3'
(R):5'- GCTAGTCGTATAGGTAAGACTTGTG -3'
Sequencing Primer
(F):5'- CTGAGAGTTTGAGGCCAACTCTAC -3'
(R):5'- GACTTGTGAAGATTTGTAATTAGCG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation