Incidental Mutation 'R5948:Adad1'
| ID |
472273 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adad1
|
| Ensembl Gene |
ENSMUSG00000027719 |
| Gene Name |
adenosine deaminase domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
043244-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.257)
|
| Stock # |
R5948 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
37117805-37165661 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 37137504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115260
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029274]
[ENSMUST00000144629]
|
| AlphaFold |
Q5SUE7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029274
|
| SMART Domains |
Protein: ENSMUSP00000029274
Gene: ENSMUSG00000027719
| 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 null
Transcript: ENSMUST00000144629
|
| SMART Domains |
Protein: ENSMUSP00000115260
Gene: ENSMUSG00000027719
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam8 |
G |
T |
7: 139,567,797 (GRCm39) |
D341E |
probably benign |
Het |
| Ankrd6 |
T |
C |
4: 32,817,075 (GRCm39) |
T351A |
possibly damaging |
Het |
| Ccdc150 |
T |
C |
1: 54,316,873 (GRCm39) |
S251P |
possibly damaging |
Het |
| Cfh |
T |
C |
1: 140,036,546 (GRCm39) |
N629S |
probably damaging |
Het |
| Col4a2 |
T |
C |
8: 11,470,600 (GRCm39) |
S453P |
probably benign |
Het |
| Csf2 |
T |
C |
11: 54,138,514 (GRCm39) |
D109G |
probably benign |
Het |
| Dapk1 |
C |
A |
13: 60,877,209 (GRCm39) |
H483N |
probably damaging |
Het |
| Dnah7c |
T |
G |
1: 46,711,657 (GRCm39) |
I2628R |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,379,377 (GRCm39) |
Y2041H |
possibly damaging |
Het |
| Dusp10 |
A |
G |
1: 183,801,073 (GRCm39) |
N280S |
probably benign |
Het |
| Efhc1 |
T |
A |
1: 21,043,052 (GRCm39) |
Y324N |
probably damaging |
Het |
| Epsti1 |
T |
C |
14: 78,177,330 (GRCm39) |
L170P |
probably damaging |
Het |
| Fbn2 |
C |
T |
18: 58,170,121 (GRCm39) |
G2217R |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,254,715 (GRCm39) |
|
probably null |
Het |
| Mrpl39 |
T |
C |
16: 84,522,041 (GRCm39) |
N244D |
probably benign |
Het |
| Nptxr |
C |
T |
15: 79,674,042 (GRCm39) |
A445T |
probably benign |
Het |
| Or1j15 |
A |
G |
2: 36,459,363 (GRCm39) |
Y251C |
probably damaging |
Het |
| Otud3 |
A |
G |
4: 138,624,925 (GRCm39) |
Y259H |
probably benign |
Het |
| Parvb |
G |
A |
15: 84,187,662 (GRCm39) |
V257M |
probably damaging |
Het |
| Piezo1 |
T |
C |
8: 123,210,086 (GRCm39) |
E2258G |
probably benign |
Het |
| Prpf8 |
A |
G |
11: 75,400,015 (GRCm39) |
E2303G |
possibly damaging |
Het |
| Psmc6 |
A |
G |
14: 45,572,114 (GRCm39) |
D88G |
probably benign |
Het |
| Rbbp6 |
C |
T |
7: 122,596,851 (GRCm39) |
T701I |
probably damaging |
Het |
| Rtl1 |
T |
A |
12: 109,557,033 (GRCm39) |
D1602V |
possibly damaging |
Het |
| Rubcnl |
T |
C |
14: 75,285,056 (GRCm39) |
L525P |
probably damaging |
Het |
| Sbf2 |
T |
C |
7: 110,088,492 (GRCm39) |
D73G |
probably damaging |
Het |
| Sh3tc2 |
T |
A |
18: 62,146,176 (GRCm39) |
M1185K |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,960,960 (GRCm39) |
K469E |
probably damaging |
Het |
| Ttc41 |
T |
C |
10: 86,549,088 (GRCm39) |
L94P |
probably damaging |
Het |
| Ttf1 |
G |
A |
2: 28,963,932 (GRCm39) |
A603T |
possibly damaging |
Het |
| Usp9y |
A |
T |
Y: 1,324,996 (GRCm39) |
H1686Q |
possibly damaging |
Het |
| Vps37a |
A |
G |
8: 40,993,752 (GRCm39) |
E249G |
possibly damaging |
Het |
| Zfp273 |
A |
G |
13: 67,973,918 (GRCm39) |
I316V |
probably benign |
Het |
| Zfp600 |
T |
A |
4: 146,131,645 (GRCm39) |
N104K |
probably 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 |
|
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 |
|
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'- GGTACTTTTATAGACAGCTTCTGC -3'
(R):5'- GGCAGAGTTTTCAATACCACAG -3'
Sequencing Primer
(F):5'- GCTCTTCTATAGCAAAAATCCTGC -3'
(R):5'- GCAGAGTTTTCAATACCACAGAAAAG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation