Incidental Mutation 'R7106:Atad2'
| ID |
551201 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atad2
|
| Ensembl Gene |
ENSMUSG00000022360 |
| Gene Name |
ATPase family, AAA domain containing 2 |
| Synonyms |
2610509G12Rik |
| MMRRC Submission |
045198-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.356)
|
| Stock # |
R7106 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
57957440-57998478 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 57980162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038194]
[ENSMUST00000228783]
|
| AlphaFold |
Q8CDM1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000038194
|
| SMART Domains |
Protein: ENSMUSP00000043691
Gene: ENSMUSG00000022360
| 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 null
Transcript: ENSMUST00000228783
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (62/62) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldob |
T |
C |
4: 49,541,258 (GRCm39) |
Y138C |
probably damaging |
Het |
| Ano7 |
A |
C |
1: 93,302,705 (GRCm39) |
|
probably null |
Het |
| Arvcf |
T |
A |
16: 18,217,799 (GRCm39) |
V497E |
probably damaging |
Het |
| Brinp1 |
C |
T |
4: 68,747,615 (GRCm39) |
A163T |
probably benign |
Het |
| Catsperd |
C |
A |
17: 56,965,070 (GRCm39) |
|
probably null |
Het |
| Ccm2l |
A |
G |
2: 152,912,571 (GRCm39) |
H70R |
possibly damaging |
Het |
| Cgnl1 |
G |
A |
9: 71,633,015 (GRCm39) |
T112I |
probably benign |
Het |
| Chid1 |
T |
C |
7: 141,102,573 (GRCm39) |
H220R |
probably benign |
Het |
| Clca3a1 |
A |
G |
3: 144,733,190 (GRCm39) |
V106A |
probably damaging |
Het |
| Cldn23 |
A |
C |
8: 36,293,069 (GRCm39) |
S140A |
probably benign |
Het |
| Dennd2c |
T |
C |
3: 103,038,893 (GRCm39) |
S14P |
possibly damaging |
Het |
| Det1 |
T |
C |
7: 78,493,212 (GRCm39) |
D264G |
probably damaging |
Het |
| Dmwd |
T |
C |
7: 18,814,454 (GRCm39) |
V368A |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 117,924,884 (GRCm39) |
K3362E |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,960,152 (GRCm39) |
F2208L |
probably damaging |
Het |
| Dnaja3 |
T |
C |
16: 4,523,798 (GRCm39) |
I477T |
probably benign |
Het |
| Dnmt3a |
A |
G |
12: 3,947,591 (GRCm39) |
K482E |
probably damaging |
Het |
| Dock7 |
A |
G |
4: 98,855,563 (GRCm39) |
I1493T |
unknown |
Het |
| Ehbp1l1 |
A |
G |
19: 5,768,765 (GRCm39) |
V846A |
probably benign |
Het |
| Fbxl4 |
T |
A |
4: 22,427,140 (GRCm39) |
|
probably null |
Het |
| Fgd2 |
T |
A |
17: 29,595,944 (GRCm39) |
L534* |
probably null |
Het |
| Fgfr3 |
T |
C |
5: 33,888,758 (GRCm39) |
V349A |
probably damaging |
Het |
| Gal3st1 |
A |
T |
11: 3,948,509 (GRCm39) |
I239F |
probably damaging |
Het |
| Gpatch3 |
C |
A |
4: 133,305,514 (GRCm39) |
H250N |
probably benign |
Het |
| Guca1b |
A |
T |
17: 47,702,236 (GRCm39) |
K230* |
probably null |
Het |
| Itga3 |
G |
T |
11: 94,946,699 (GRCm39) |
L737I |
probably benign |
Het |
| Kmt5c |
A |
G |
7: 4,745,705 (GRCm39) |
K122E |
probably damaging |
Het |
| Kpna4 |
G |
A |
3: 68,986,797 (GRCm39) |
Q531* |
probably null |
Het |
| Lctl |
A |
G |
9: 64,040,119 (GRCm39) |
E410G |
probably benign |
Het |
| Lhx1 |
T |
C |
11: 84,412,903 (GRCm39) |
N128D |
probably benign |
Het |
| Lifr |
A |
G |
15: 7,202,405 (GRCm39) |
N349D |
probably benign |
Het |
| Map2 |
G |
A |
1: 66,449,903 (GRCm39) |
A209T |
possibly damaging |
Het |
| Mif4gd |
G |
A |
11: 115,502,737 (GRCm39) |
A25V |
probably damaging |
Het |
| Mug2 |
T |
C |
6: 122,059,680 (GRCm39) |
S1353P |
probably damaging |
Het |
| Myh9 |
A |
G |
15: 77,659,321 (GRCm39) |
C931R |
probably benign |
Het |
| Nelfe |
T |
G |
17: 35,071,395 (GRCm39) |
|
probably null |
Het |
| Nrf1 |
A |
G |
6: 30,102,183 (GRCm39) |
S161G |
probably benign |
Het |
| Pik3c2a |
G |
A |
7: 116,017,368 (GRCm39) |
Q130* |
probably null |
Het |
| Prex2 |
T |
A |
1: 11,207,017 (GRCm39) |
M525K |
probably benign |
Het |
| Psme2 |
A |
G |
14: 55,825,694 (GRCm39) |
S165P |
probably benign |
Het |
| Rapgef2 |
A |
G |
3: 78,973,915 (GRCm39) |
F1477S |
probably benign |
Het |
| Rasef |
A |
T |
4: 73,645,864 (GRCm39) |
C502S |
probably damaging |
Het |
| Rpap2 |
T |
A |
5: 107,780,988 (GRCm39) |
L565* |
probably null |
Het |
| Sav1 |
A |
G |
12: 70,031,390 (GRCm39) |
I44T |
probably damaging |
Het |
| Selp |
T |
A |
1: 163,953,991 (GRCm39) |
I97N |
probably benign |
Het |
| Serpina1d |
A |
G |
12: 103,731,980 (GRCm39) |
F293S |
probably benign |
Het |
| Sin3b |
T |
C |
8: 73,450,765 (GRCm39) |
F65L |
possibly damaging |
Het |
| Sorcs3 |
G |
C |
19: 48,694,402 (GRCm39) |
G559R |
probably damaging |
Het |
| Susd2 |
A |
T |
10: 75,473,887 (GRCm39) |
D689E |
probably damaging |
Het |
| Tas1r2 |
A |
T |
4: 139,389,360 (GRCm39) |
M448L |
probably benign |
Het |
| Tbc1d30 |
A |
T |
10: 121,137,897 (GRCm39) |
I181N |
possibly damaging |
Het |
| Tcea3 |
A |
G |
4: 135,998,679 (GRCm39) |
T318A |
probably damaging |
Het |
| Tomm70a |
T |
C |
16: 56,961,121 (GRCm39) |
V358A |
probably damaging |
Het |
| Tpp1 |
A |
C |
7: 105,399,118 (GRCm39) |
S153A |
possibly damaging |
Het |
| Trip13 |
C |
T |
13: 74,062,651 (GRCm39) |
V387I |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,627,832 (GRCm39) |
I14704V |
probably benign |
Het |
| Uimc1 |
C |
A |
13: 55,198,628 (GRCm39) |
C516F |
possibly damaging |
Het |
| Vit |
A |
G |
17: 78,894,228 (GRCm39) |
N210S |
probably benign |
Het |
| Vmn1r22 |
G |
T |
6: 57,877,296 (GRCm39) |
T227K |
probably damaging |
Het |
| Vmn2r5 |
A |
G |
3: 64,399,104 (GRCm39) |
I625T |
probably benign |
Het |
| Zfp27 |
AATCCGCTTGTGCA |
AA |
7: 29,594,446 (GRCm39) |
|
probably benign |
Het |
| Zfp384 |
T |
C |
6: 125,001,222 (GRCm39) |
L98P |
probably benign |
Het |
| Zfp809 |
G |
T |
9: 22,147,520 (GRCm39) |
K51N |
probably benign |
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 |
|
R6856:Atad2
|
UTSW |
15 |
57,970,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TATAGCTCTAGGCACACTCAGG -3'
(R):5'- GTTGATTATGAAGACATAGGCAGTG -3'
Sequencing Primer
(F):5'- AGTCTGATGGCTCACAACTG -3'
(R):5'- AGGCAGTGTTTTAATTTTAATGCAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation