Incidental Mutation 'IGL01903:Adad1'
| ID |
179599 |
| 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: 0.257)
|
| Stock # |
IGL01903
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
37117805-37165661 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 37139231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029274]
[ENSMUST00000144629]
|
| AlphaFold |
Q5SUE7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029274
AA Change: W363R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029274
Gene: ENSMUSG00000027719
AA Change: W363R
| 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 |
probably damaging
Transcript: ENSMUST00000144629
AA Change: W434R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115260
Gene: ENSMUSG00000027719
AA Change: W434R
| 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 null
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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,949,050 (GRCm39) |
|
probably benign |
Het |
| Asxl3 |
T |
A |
18: 22,567,633 (GRCm39) |
D70E |
probably benign |
Het |
| Atat1 |
T |
A |
17: 36,208,692 (GRCm39) |
I380L |
probably benign |
Het |
| Ccnj |
A |
G |
19: 40,834,454 (GRCm39) |
E351G |
probably damaging |
Het |
| Clca4b |
A |
T |
3: 144,634,020 (GRCm39) |
Y132N |
probably damaging |
Het |
| Cttnbp2 |
A |
C |
6: 18,501,964 (GRCm39) |
V16G |
probably damaging |
Het |
| Gcdh |
A |
T |
8: 85,615,233 (GRCm39) |
L389Q |
probably damaging |
Het |
| Ggta1 |
A |
T |
2: 35,292,569 (GRCm39) |
F258Y |
possibly damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm3696 |
T |
A |
14: 18,434,983 (GRCm39) |
|
probably benign |
Het |
| Gramd2b |
A |
T |
18: 56,607,101 (GRCm39) |
S72C |
probably damaging |
Het |
| Hal |
G |
A |
10: 93,336,469 (GRCm39) |
|
probably benign |
Het |
| Haus4 |
A |
T |
14: 54,779,886 (GRCm39) |
S288T |
possibly damaging |
Het |
| Herc1 |
A |
T |
9: 66,294,154 (GRCm39) |
K499* |
probably null |
Het |
| Hyou1 |
C |
T |
9: 44,292,438 (GRCm39) |
|
probably benign |
Het |
| Kng2 |
C |
T |
16: 22,806,540 (GRCm39) |
R553Q |
possibly damaging |
Het |
| Leng9 |
G |
A |
7: 4,151,746 (GRCm39) |
A310V |
probably damaging |
Het |
| Magi3 |
G |
T |
3: 103,958,526 (GRCm39) |
Q520K |
possibly damaging |
Het |
| Mark1 |
A |
G |
1: 184,661,577 (GRCm39) |
|
probably benign |
Het |
| Mybl1 |
T |
A |
1: 9,741,801 (GRCm39) |
|
probably null |
Het |
| Ncapd2 |
A |
G |
6: 125,154,423 (GRCm39) |
S598P |
probably benign |
Het |
| Or14j5 |
T |
C |
17: 37,920,758 (GRCm39) |
I295V |
possibly damaging |
Het |
| Or4k47 |
T |
C |
2: 111,452,003 (GRCm39) |
K139E |
probably benign |
Het |
| Or5a3 |
G |
A |
19: 12,400,047 (GRCm39) |
V125I |
probably benign |
Het |
| Or5aq1 |
A |
C |
2: 86,965,723 (GRCm39) |
|
probably null |
Het |
| Otud6b |
C |
T |
4: 14,818,458 (GRCm39) |
E148K |
probably benign |
Het |
| Pgghg |
A |
G |
7: 140,526,741 (GRCm39) |
Q686R |
probably benign |
Het |
| Pkhd1 |
C |
A |
1: 20,268,361 (GRCm39) |
C3339F |
probably damaging |
Het |
| Pla2g4a |
T |
C |
1: 149,716,370 (GRCm39) |
D697G |
possibly damaging |
Het |
| Serping1 |
A |
T |
2: 84,600,116 (GRCm39) |
|
probably null |
Het |
| Sfxn4 |
T |
C |
19: 60,847,118 (GRCm39) |
Y55C |
probably damaging |
Het |
| Sh3bp5l |
A |
G |
11: 58,236,864 (GRCm39) |
R274G |
probably damaging |
Het |
| Snx13 |
A |
G |
12: 35,135,968 (GRCm39) |
T88A |
probably benign |
Het |
| Spz1 |
G |
T |
13: 92,711,407 (GRCm39) |
N356K |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 54,923,412 (GRCm39) |
F288L |
probably benign |
Het |
| Tti1 |
T |
C |
2: 157,842,542 (GRCm39) |
E829G |
probably benign |
Het |
| Ube2z |
T |
C |
11: 95,955,826 (GRCm39) |
D92G |
possibly damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r7 |
A |
G |
3: 64,626,864 (GRCm39) |
Y142H |
probably benign |
Het |
| Zfp397 |
T |
A |
18: 24,093,086 (GRCm39) |
N190K |
probably benign |
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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation