Incidental Mutation 'R7010:Atat1'
| ID |
544984 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atat1
|
| Ensembl Gene |
ENSMUSG00000024426 |
| Gene Name |
alpha tubulin acetyltransferase 1 |
| Synonyms |
3110080J08Rik, 2610110G12Rik, MEC-17, 0610011P08Rik, 2610008K08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.224)
|
| Stock # |
R7010 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
36208487-36220967 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36219522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 114
(D114G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117824
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025305]
[ENSMUST00000056034]
[ENSMUST00000061052]
[ENSMUST00000077494]
[ENSMUST00000113782]
[ENSMUST00000141132]
[ENSMUST00000141662]
[ENSMUST00000149277]
[ENSMUST00000174807]
|
| AlphaFold |
Q8K341 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025305
|
| SMART Domains |
Protein: ENSMUSP00000025305
Gene: ENSMUSG00000024436
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S18
|
109 |
161 |
8.1e-18 |
PFAM |
|
low complexity region
|
196 |
207 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
245 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056034
AA Change: D157G
PolyPhen 2
Score 0.760 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000053853
Gene: ENSMUSG00000024426
AA Change: D157G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
36 |
N/A |
INTRINSIC |
|
Pfam:Mec-17
|
72 |
192 |
1.5e-57 |
PFAM |
|
low complexity region
|
232 |
249 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061052
AA Change: D157G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056383
Gene: ENSMUSG00000024426
AA Change: D157G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
36 |
N/A |
INTRINSIC |
|
Pfam:Mec-17
|
74 |
191 |
1.5e-53 |
PFAM |
|
Pfam:Acetyltransf_1
|
88 |
157 |
6.8e-5 |
PFAM |
|
low complexity region
|
209 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
272 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077494
AA Change: D157G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076703
Gene: ENSMUSG00000024426
AA Change: D157G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
36 |
N/A |
INTRINSIC |
|
Pfam:Mec-17
|
72 |
192 |
2.5e-57 |
PFAM |
|
low complexity region
|
232 |
249 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113782
|
| SMART Domains |
Protein: ENSMUSP00000109412
Gene: ENSMUSG00000024436
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S18
|
18 |
69 |
5.1e-16 |
PFAM |
|
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
116 |
125 |
N/A |
INTRINSIC |
|
low complexity region
|
132 |
153 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000122211
Gene: ENSMUSG00000024426
AA Change: D48G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mec-17
|
1 |
83 |
2.7e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137182
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140292
|
| SMART Domains |
Protein: ENSMUSP00000119039
Gene: ENSMUSG00000024426
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4GS4|A
|
2 |
36 |
9e-13 |
PDB |
|
low complexity region
|
50 |
67 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141132
AA Change: D114G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117824
Gene: ENSMUSG00000024426
AA Change: D114G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mec-17
|
29 |
149 |
9.1e-59 |
PFAM |
|
low complexity region
|
166 |
177 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141662
AA Change: D157G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000115004
Gene: ENSMUSG00000024426
AA Change: D157G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
36 |
N/A |
INTRINSIC |
|
Pfam:Mec-17
|
72 |
192 |
1.7e-57 |
PFAM |
|
low complexity region
|
209 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
272 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149277
AA Change: D157G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122715
Gene: ENSMUSG00000024426
AA Change: D157G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
36 |
N/A |
INTRINSIC |
|
Pfam:Mec-17
|
72 |
192 |
2e-57 |
PFAM |
|
low complexity region
|
209 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
319 |
330 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172642
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174349
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174807
|
| SMART Domains |
Protein: ENSMUSP00000133584
Gene: ENSMUSG00000024436
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fjgr_
|
91 |
128 |
1e-8 |
SMART |
|
low complexity region
|
130 |
141 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
151 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
179 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that localizes to clathrin-coated pits, where it acetylates alpha tubulin on lysine 40. This process may be important in microtubule growth, for instance during chemotaxis and the formation of cilium. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired alpha tubulin acetylation and abnormal dentate gyrus morphology. Mice homozygous for a different knock-out allele exhibit reduced male fertility associated with teratozoospermia, oligozoospermia andasthenozoospermia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AL592187.3 |
A |
T |
15: 77,486,797 (GRCm39) |
Y58F |
probably benign |
Het |
| Ano10 |
T |
C |
9: 122,082,190 (GRCm39) |
T494A |
probably damaging |
Het |
| Asah2 |
A |
T |
19: 32,031,954 (GRCm39) |
F72I |
probably benign |
Het |
| Atp6v1e2 |
C |
T |
17: 87,251,773 (GRCm39) |
M208I |
probably benign |
Het |
| Bicd1 |
A |
G |
6: 149,396,113 (GRCm39) |
Y161C |
probably damaging |
Het |
| Camk2g |
T |
C |
14: 20,791,512 (GRCm39) |
S410G |
probably benign |
Het |
| Car2 |
C |
T |
3: 14,965,113 (GRCm39) |
P249L |
possibly damaging |
Het |
| Cdh23 |
T |
G |
10: 60,366,770 (GRCm39) |
I237L |
probably benign |
Het |
| Dlat |
T |
A |
9: 50,569,274 (GRCm39) |
K176N |
probably damaging |
Het |
| Dnajc12 |
T |
A |
10: 63,233,059 (GRCm39) |
C67S |
probably benign |
Het |
| Fat1 |
G |
T |
8: 45,406,386 (GRCm39) |
E1046* |
probably null |
Het |
| Gmip |
G |
A |
8: 70,264,050 (GRCm39) |
A137T |
probably damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Grk6 |
A |
G |
13: 55,598,113 (GRCm39) |
I62V |
possibly damaging |
Het |
| Hook1 |
G |
T |
4: 95,903,048 (GRCm39) |
L512F |
probably damaging |
Het |
| Ighe |
T |
C |
12: 113,236,761 (GRCm39) |
T36A |
|
Het |
| Il17rc |
A |
G |
6: 113,456,249 (GRCm39) |
N338S |
possibly damaging |
Het |
| Itgb6 |
T |
C |
2: 60,480,322 (GRCm39) |
Y338C |
probably damaging |
Het |
| Kcnd2 |
A |
G |
6: 21,216,707 (GRCm39) |
Y137C |
probably damaging |
Het |
| L3mbtl3 |
T |
A |
10: 26,158,759 (GRCm39) |
|
probably null |
Het |
| Lcn3 |
T |
C |
2: 25,656,068 (GRCm39) |
F41S |
probably damaging |
Het |
| Map3k8 |
T |
C |
18: 4,334,060 (GRCm39) |
H344R |
probably damaging |
Het |
| Marf1 |
A |
T |
16: 13,954,865 (GRCm39) |
I884N |
probably damaging |
Het |
| Nalcn |
G |
A |
14: 123,530,877 (GRCm39) |
T1387I |
probably damaging |
Het |
| Nrros |
T |
C |
16: 31,962,398 (GRCm39) |
T540A |
probably damaging |
Het |
| Or5p63 |
A |
T |
7: 107,811,349 (GRCm39) |
I129N |
probably damaging |
Het |
| Pank2 |
T |
C |
2: 131,122,293 (GRCm39) |
Y273H |
probably benign |
Het |
| Pgrmc2 |
A |
G |
3: 41,037,068 (GRCm39) |
V121A |
probably damaging |
Het |
| Phldb2 |
C |
T |
16: 45,571,868 (GRCm39) |
V1175M |
probably damaging |
Het |
| Prss3b |
A |
C |
6: 41,009,247 (GRCm39) |
S196A |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,290,393 (GRCm39) |
|
probably null |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Syt7 |
A |
G |
19: 10,395,354 (GRCm39) |
T55A |
probably benign |
Het |
| Tfcp2l1 |
T |
C |
1: 118,581,457 (GRCm39) |
S137P |
probably damaging |
Het |
| Tom1 |
T |
A |
8: 75,778,603 (GRCm39) |
V140D |
probably damaging |
Het |
| Ttc23l |
T |
G |
15: 10,515,224 (GRCm39) |
I385L |
probably damaging |
Het |
| Vmn1r122 |
A |
G |
7: 20,867,896 (GRCm39) |
V53A |
probably damaging |
Het |
| Vmn2r1 |
C |
T |
3: 64,012,146 (GRCm39) |
T669I |
probably benign |
Het |
| Vmn2r86 |
A |
G |
10: 130,291,726 (GRCm39) |
L13P |
probably benign |
Het |
| Zfp958 |
T |
C |
8: 4,678,377 (GRCm39) |
I134T |
probably benign |
Het |
|
| Other mutations in Atat1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00587:Atat1
|
APN |
17 |
36,208,775 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01903:Atat1
|
APN |
17 |
36,208,692 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01958:Atat1
|
APN |
17 |
36,219,735 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02725:Atat1
|
APN |
17 |
36,220,381 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02729:Atat1
|
APN |
17 |
36,209,283 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0633:Atat1
|
UTSW |
17 |
36,212,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1541:Atat1
|
UTSW |
17 |
36,215,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1944:Atat1
|
UTSW |
17 |
36,220,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2054:Atat1
|
UTSW |
17 |
36,212,261 (GRCm39) |
missense |
probably null |
0.99 |
|
R2132:Atat1
|
UTSW |
17 |
36,220,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4967:Atat1
|
UTSW |
17 |
36,212,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6062:Atat1
|
UTSW |
17 |
36,219,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6347:Atat1
|
UTSW |
17 |
36,220,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6380:Atat1
|
UTSW |
17 |
36,219,849 (GRCm39) |
splice site |
probably null |
|
|
R7028:Atat1
|
UTSW |
17 |
36,220,897 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7230:Atat1
|
UTSW |
17 |
36,220,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7520:Atat1
|
UTSW |
17 |
36,208,706 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7607:Atat1
|
UTSW |
17 |
36,219,999 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8104:Atat1
|
UTSW |
17 |
36,215,008 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8334:Atat1
|
UTSW |
17 |
36,220,150 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9031:Atat1
|
UTSW |
17 |
36,220,381 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9174:Atat1
|
UTSW |
17 |
36,220,032 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9587:Atat1
|
UTSW |
17 |
36,209,182 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9763:Atat1
|
UTSW |
17 |
36,220,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAGCTCAGGCATAAAGTCC -3'
(R):5'- TAAAAGGCTCTTCACCCCG -3'
Sequencing Primer
(F):5'- GATCTGTGTGTTCAAGGCCAACC -3'
(R):5'- TTCACCCCGAAGCTCTAGGAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation