Incidental Mutation 'R5025:Adad1'
ID |
391285 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adad1
|
Ensembl Gene |
ENSMUSG00000027719 |
Gene Name |
adenosine deaminase domain containing 1 |
Synonyms |
|
MMRRC Submission |
042616-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.293)
|
Stock # |
R5025 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
37117805-37165661 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 37119359 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 147
(A147S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115260
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029274]
[ENSMUST00000144629]
|
AlphaFold |
Q5SUE7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029274
AA Change: A87S
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000029274 Gene: ENSMUSG00000027719 AA Change: A87S
Domain | Start | End | E-Value | Type |
DSRM
|
79 |
145 |
4.04e-15 |
SMART |
low complexity region
|
154 |
176 |
N/A |
INTRINSIC |
ADEAMc
|
186 |
547 |
2.51e-165 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141736
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000144629
AA Change: A147S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000115260 Gene: ENSMUSG00000027719 AA Change: A147S
Domain | Start | End | E-Value | Type |
Blast:DSRM
|
51 |
108 |
5e-20 |
BLAST |
DSRM
|
139 |
205 |
4.04e-15 |
SMART |
low complexity region
|
214 |
236 |
N/A |
INTRINSIC |
ADEAMc
|
246 |
618 |
4.77e-180 |
SMART |
|
Meta Mutation Damage Score |
0.2345 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
100% (40/40) |
MGI Phenotype |
PHENOTYPE: Male mice homozygous for a mutated allele have reduced sperm counts and motility, and increased sperm malformation resulting in background dependent sterility. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm2 |
T |
A |
7: 119,153,719 (GRCm39) |
F10I |
unknown |
Het |
Atg14 |
T |
G |
14: 47,783,273 (GRCm39) |
N354T |
probably damaging |
Het |
Brip1 |
T |
A |
11: 85,955,806 (GRCm39) |
E902D |
probably benign |
Het |
Brwd1 |
A |
G |
16: 95,855,172 (GRCm39) |
S419P |
probably damaging |
Het |
Camsap3 |
A |
G |
8: 3,654,244 (GRCm39) |
K638R |
probably damaging |
Het |
Dennd4c |
T |
A |
4: 86,713,536 (GRCm39) |
|
probably null |
Het |
Dnah3 |
T |
C |
7: 119,671,128 (GRCm39) |
N585S |
probably benign |
Het |
Eef1akmt2 |
C |
A |
7: 132,453,218 (GRCm39) |
W38L |
probably damaging |
Het |
Fasn |
A |
T |
11: 120,702,734 (GRCm39) |
D1709E |
probably benign |
Het |
Fbrsl1 |
T |
C |
5: 110,565,767 (GRCm39) |
D179G |
probably damaging |
Het |
Fbxl18 |
A |
T |
5: 142,872,068 (GRCm39) |
I389N |
probably damaging |
Het |
Fuca1 |
G |
T |
4: 135,660,237 (GRCm39) |
G252C |
probably damaging |
Het |
Fut9 |
T |
A |
4: 25,620,502 (GRCm39) |
H104L |
probably damaging |
Het |
Glra1 |
C |
T |
11: 55,427,331 (GRCm39) |
|
probably null |
Het |
Gpsm1 |
T |
C |
2: 26,210,008 (GRCm39) |
V45A |
possibly damaging |
Het |
Hadha |
A |
G |
5: 30,359,959 (GRCm39) |
|
probably benign |
Het |
Hddc2 |
C |
T |
10: 31,203,949 (GRCm39) |
T192I |
probably benign |
Het |
Herc1 |
A |
T |
9: 66,377,608 (GRCm39) |
K3458M |
possibly damaging |
Het |
Igkv14-100 |
A |
G |
6: 68,496,383 (GRCm39) |
D92G |
probably damaging |
Het |
Il17rc |
T |
C |
6: 113,449,327 (GRCm39) |
V88A |
possibly damaging |
Het |
Inpp5j |
T |
C |
11: 3,450,664 (GRCm39) |
D563G |
probably damaging |
Het |
Lamc3 |
T |
A |
2: 31,798,681 (GRCm39) |
N462K |
probably benign |
Het |
Mrpl15 |
T |
C |
1: 4,854,368 (GRCm39) |
|
probably benign |
Het |
Myh7b |
G |
C |
2: 155,474,293 (GRCm39) |
R1669S |
possibly damaging |
Het |
Obi1 |
C |
T |
14: 104,745,466 (GRCm39) |
G70E |
probably damaging |
Het |
Or2n1c |
T |
C |
17: 38,519,334 (GRCm39) |
L66P |
probably damaging |
Het |
Or5b122 |
G |
T |
19: 13,562,886 (GRCm39) |
A30S |
probably benign |
Het |
Psg20 |
T |
C |
7: 18,408,291 (GRCm39) |
*473W |
probably null |
Het |
Rimbp3 |
A |
G |
16: 17,027,671 (GRCm39) |
E365G |
probably damaging |
Het |
Snai2 |
A |
G |
16: 14,526,053 (GRCm39) |
T235A |
possibly damaging |
Het |
Tg |
A |
T |
15: 66,579,779 (GRCm39) |
Y1528F |
probably damaging |
Het |
Tlr3 |
A |
G |
8: 45,856,075 (GRCm39) |
V35A |
probably benign |
Het |
Tnfsf15 |
T |
C |
4: 63,648,125 (GRCm39) |
I172V |
probably benign |
Het |
Tns1 |
G |
A |
1: 73,964,641 (GRCm39) |
T1330I |
probably damaging |
Het |
Zc3h6 |
T |
A |
2: 128,852,353 (GRCm39) |
F330I |
possibly damaging |
Het |
Zdbf2 |
A |
G |
1: 63,342,809 (GRCm39) |
E396G |
possibly damaging |
Het |
|
Other mutations in Adad1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01444:Adad1
|
APN |
3 |
37,146,183 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01903:Adad1
|
APN |
3 |
37,139,231 (GRCm39) |
splice site |
probably null |
|
IGL02501:Adad1
|
APN |
3 |
37,137,489 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02703:Adad1
|
APN |
3 |
37,118,390 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03354:Adad1
|
APN |
3 |
37,160,322 (GRCm39) |
missense |
probably damaging |
1.00 |
R0042:Adad1
|
UTSW |
3 |
37,137,322 (GRCm39) |
unclassified |
probably benign |
|
R0233:Adad1
|
UTSW |
3 |
37,139,097 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0233:Adad1
|
UTSW |
3 |
37,139,097 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0928:Adad1
|
UTSW |
3 |
37,130,889 (GRCm39) |
critical splice donor site |
probably null |
|
R1704:Adad1
|
UTSW |
3 |
37,146,164 (GRCm39) |
missense |
probably benign |
|
R4081:Adad1
|
UTSW |
3 |
37,118,512 (GRCm39) |
splice site |
probably null |
|
R4596:Adad1
|
UTSW |
3 |
37,119,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R4613:Adad1
|
UTSW |
3 |
37,146,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R4810:Adad1
|
UTSW |
3 |
37,146,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R4855:Adad1
|
UTSW |
3 |
37,139,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R4884:Adad1
|
UTSW |
3 |
37,130,813 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5286:Adad1
|
UTSW |
3 |
37,119,399 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5356:Adad1
|
UTSW |
3 |
37,119,405 (GRCm39) |
missense |
probably damaging |
1.00 |
R5948:Adad1
|
UTSW |
3 |
37,137,504 (GRCm39) |
critical splice donor site |
probably null |
|
R6091:Adad1
|
UTSW |
3 |
37,139,118 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7230:Adad1
|
UTSW |
3 |
37,119,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R7882:Adad1
|
UTSW |
3 |
37,133,951 (GRCm39) |
missense |
probably damaging |
1.00 |
R7994:Adad1
|
UTSW |
3 |
37,146,120 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8342:Adad1
|
UTSW |
3 |
37,134,050 (GRCm39) |
missense |
probably damaging |
1.00 |
R9080:Adad1
|
UTSW |
3 |
37,119,398 (GRCm39) |
missense |
probably benign |
0.34 |
R9267:Adad1
|
UTSW |
3 |
37,139,074 (GRCm39) |
unclassified |
probably benign |
|
R9337:Adad1
|
UTSW |
3 |
37,139,247 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9443:Adad1
|
UTSW |
3 |
37,146,140 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AACTGTCTAGTAGGAACTTGGGG -3'
(R):5'- GATCAACACTGACAGAAATGTGTC -3'
Sequencing Primer
(F):5'- GGGAAAACATGCTTATTGTATAAGGG -3'
(R):5'- ACAGAAATGTGTCTTTATTTTGTCAC -3'
|
Posted On |
2016-06-06 |