Incidental Mutation 'IGL02501:Adad1'
ID |
296051 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Adad1
|
Ensembl Gene |
ENSMUSG00000027719 |
Gene Name |
adenosine deaminase domain containing 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.293)
|
Stock # |
IGL02501
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
37117805-37165661 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 37137489 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 307
(I307F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029274
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029274]
[ENSMUST00000144629]
|
AlphaFold |
Q5SUE7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029274
AA Change: I307F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000029274 Gene: ENSMUSG00000027719 AA Change: I307F
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: ENSMUST00000030555
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000144629
AA Change: I378F
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000115260 Gene: ENSMUSG00000027719 AA Change: I378F
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147773
|
SMART Domains |
Protein: ENSMUSP00000121015 Gene: ENSMUSG00000027719
Domain | Start | End | E-Value | Type |
Pfam:A_deamin
|
1 |
176 |
1.3e-49 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148157
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam15 |
G |
A |
3: 89,247,769 (GRCm39) |
A789V |
possibly damaging |
Het |
Bspry |
A |
G |
4: 62,414,672 (GRCm39) |
T422A |
probably benign |
Het |
Btnl6 |
T |
A |
17: 34,734,648 (GRCm39) |
D38V |
possibly damaging |
Het |
Cd59b |
G |
A |
2: 103,909,273 (GRCm39) |
C18Y |
probably damaging |
Het |
Clstn1 |
T |
G |
4: 149,716,299 (GRCm39) |
I255R |
probably damaging |
Het |
Dpp10 |
A |
G |
1: 123,613,999 (GRCm39) |
L99P |
possibly damaging |
Het |
Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
Emc1 |
A |
T |
4: 139,098,295 (GRCm39) |
T759S |
probably benign |
Het |
Fndc1 |
C |
T |
17: 7,984,230 (GRCm39) |
G1232E |
unknown |
Het |
Gjb3 |
C |
T |
4: 127,220,157 (GRCm39) |
G125D |
probably damaging |
Het |
Helb |
A |
G |
10: 119,938,693 (GRCm39) |
S594P |
possibly damaging |
Het |
Hycc2 |
C |
A |
1: 58,579,350 (GRCm39) |
R229L |
probably damaging |
Het |
Ildr1 |
T |
C |
16: 36,542,712 (GRCm39) |
S371P |
probably damaging |
Het |
Kif1b |
T |
A |
4: 149,299,433 (GRCm39) |
R946W |
probably damaging |
Het |
Lrp12 |
T |
C |
15: 39,741,300 (GRCm39) |
T472A |
probably damaging |
Het |
Lyst |
A |
G |
13: 13,886,230 (GRCm39) |
D3031G |
probably benign |
Het |
Med12l |
A |
T |
3: 59,169,397 (GRCm39) |
T1596S |
possibly damaging |
Het |
Myom1 |
A |
C |
17: 71,379,076 (GRCm39) |
|
probably null |
Het |
Nhlrc2 |
T |
A |
19: 56,559,086 (GRCm39) |
Y190* |
probably null |
Het |
Nol4 |
A |
T |
18: 22,956,398 (GRCm39) |
N115K |
probably damaging |
Het |
Nrg1 |
T |
A |
8: 32,308,291 (GRCm39) |
|
probably null |
Het |
Or7g26 |
T |
A |
9: 19,229,999 (GRCm39) |
H56Q |
probably damaging |
Het |
Oxld1 |
A |
C |
11: 120,347,714 (GRCm39) |
L161R |
probably damaging |
Het |
Phex |
A |
G |
X: 155,969,271 (GRCm39) |
S568P |
probably damaging |
Het |
Pkd1 |
T |
G |
17: 24,788,673 (GRCm39) |
S810R |
probably benign |
Het |
Plin2 |
G |
T |
4: 86,582,723 (GRCm39) |
C84* |
probably null |
Het |
Ppfia3 |
A |
T |
7: 45,004,362 (GRCm39) |
|
probably benign |
Het |
Ptpn14 |
A |
G |
1: 189,582,587 (GRCm39) |
N478S |
probably benign |
Het |
Pygl |
A |
G |
12: 70,237,908 (GRCm39) |
M801T |
probably benign |
Het |
Recql5 |
A |
G |
11: 115,785,917 (GRCm39) |
Y619H |
probably benign |
Het |
Scn3a |
C |
A |
2: 65,356,899 (GRCm39) |
D182Y |
possibly damaging |
Het |
Serpinb6e |
T |
C |
13: 34,016,785 (GRCm39) |
E316G |
possibly damaging |
Het |
Shroom4 |
A |
G |
X: 6,495,998 (GRCm39) |
E386G |
possibly damaging |
Het |
Slc4a2 |
A |
G |
5: 24,634,432 (GRCm39) |
S24G |
probably benign |
Het |
Slc4a4 |
A |
G |
5: 89,277,508 (GRCm39) |
I282V |
probably benign |
Het |
Slc8b1 |
C |
T |
5: 120,658,918 (GRCm39) |
R148C |
probably damaging |
Het |
Stag2 |
A |
G |
X: 41,360,202 (GRCm39) |
|
probably benign |
Het |
Styx |
T |
A |
14: 45,609,922 (GRCm39) |
H195Q |
probably benign |
Het |
Sufu |
A |
G |
19: 46,439,349 (GRCm39) |
I190V |
probably benign |
Het |
Svep1 |
A |
G |
4: 58,145,341 (GRCm39) |
|
probably benign |
Het |
Tbc1d31 |
T |
C |
15: 57,801,344 (GRCm39) |
I293T |
probably benign |
Het |
Timp4 |
T |
A |
6: 115,223,444 (GRCm39) |
I160F |
probably damaging |
Het |
Tmem87a |
A |
T |
2: 120,234,534 (GRCm39) |
V3E |
probably damaging |
Het |
Utp4 |
T |
A |
8: 107,632,873 (GRCm39) |
H285Q |
probably benign |
Het |
Vrk1 |
T |
G |
12: 106,028,912 (GRCm39) |
S305A |
probably benign |
Het |
Zfp329 |
G |
T |
7: 12,545,106 (GRCm39) |
H139Q |
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 |
|
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 |
R5025:Adad1
|
UTSW |
3 |
37,119,359 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
|
Posted On |
2015-04-16 |