Incidental Mutation 'R0058:Dazap1'
| ID |
16860 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dazap1
|
| Ensembl Gene |
ENSMUSG00000069565 |
| Gene Name |
DAZ associated protein 1 |
| Synonyms |
2410042M16Rik, mPrrp |
| MMRRC Submission |
038352-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.473)
|
| Stock # |
R0058 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
80097320-80124242 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 80097415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020359]
[ENSMUST00000020361]
[ENSMUST00000092305]
[ENSMUST00000105361]
[ENSMUST00000105362]
[ENSMUST00000105363]
[ENSMUST00000105364]
[ENSMUST00000156935]
|
| AlphaFold |
Q9JII5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020359
|
| SMART Domains |
Protein: ENSMUSP00000020359
Gene: ENSMUSG00000020150
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1XCL|A
|
2 |
252 |
1e-151 |
PDB |
|
SCOP:d1khha_
|
44 |
252 |
3e-32 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020361
|
| SMART Domains |
Protein: ENSMUSP00000020361
Gene: ENSMUSG00000020153
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
60 |
N/A |
INTRINSIC |
|
Pfam:Oxidored_q6
|
98 |
208 |
1.9e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092305
|
| SMART Domains |
Protein: ENSMUSP00000089958
Gene: ENSMUSG00000069565
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
11 |
83 |
1.89e-24 |
SMART |
|
RRM
|
114 |
186 |
6.25e-25 |
SMART |
|
low complexity region
|
238 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
270 |
332 |
N/A |
INTRINSIC |
|
low complexity region
|
363 |
394 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105361
|
| SMART Domains |
Protein: ENSMUSP00000101000
Gene: ENSMUSG00000069565
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
11 |
83 |
1.89e-24 |
SMART |
|
RRM
|
113 |
185 |
6.25e-25 |
SMART |
|
low complexity region
|
237 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
363 |
394 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105362
|
| SMART Domains |
Protein: ENSMUSP00000101001
Gene: ENSMUSG00000069565
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
11 |
83 |
1.89e-24 |
SMART |
|
RRM
|
113 |
185 |
6.25e-25 |
SMART |
|
low complexity region
|
237 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
362 |
393 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105363
|
| SMART Domains |
Protein: ENSMUSP00000101002
Gene: ENSMUSG00000020150
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1XCL|A
|
2 |
236 |
1e-155 |
PDB |
|
SCOP:d1khha_
|
44 |
236 |
2e-34 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105364
|
| SMART Domains |
Protein: ENSMUSP00000101003
Gene: ENSMUSG00000020153
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
60 |
N/A |
INTRINSIC |
|
Pfam:Oxidored_q6
|
98 |
208 |
1.9e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156935
|
| SMART Domains |
Protein: ENSMUSP00000117497
Gene: ENSMUSG00000069565
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
3 |
75 |
1.89e-24 |
SMART |
|
RRM
|
105 |
171 |
6.71e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157063
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148615
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150328
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144798
|
| Coding Region Coverage |
- 1x: 87.4%
- 3x: 82.9%
- 10x: 66.9%
- 20x: 41.4%
|
| Validation Efficiency |
85% (62/73) |
| MGI Phenotype |
PHENOTYPE: Homozygotes for a null allele show partial lethality during fetal growth through weaning, growth retardation, spermatogenic arrest, and premature death. Homozygotes for a hypomorphic allele live longer but are small and sterile and display small gonads, spermatogenic arrest, and abnormal pregnancy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,330,791 (GRCm39) |
V6088A |
possibly damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,580,691 (GRCm39) |
|
probably benign |
Het |
| Anxa1 |
A |
T |
19: 20,361,141 (GRCm39) |
Y84N |
probably damaging |
Het |
| Arnt2 |
G |
A |
7: 83,996,738 (GRCm39) |
R63C |
probably damaging |
Het |
| Avpr1b |
A |
G |
1: 131,527,524 (GRCm39) |
T16A |
probably benign |
Het |
| Cables1 |
A |
G |
18: 12,056,470 (GRCm39) |
E316G |
possibly damaging |
Het |
| Cadm1 |
A |
T |
9: 47,761,629 (GRCm39) |
I427L |
probably damaging |
Het |
| Dip2b |
A |
G |
15: 100,113,121 (GRCm39) |
E1512G |
probably benign |
Het |
| Dock1 |
G |
A |
7: 134,710,490 (GRCm39) |
V1171M |
possibly damaging |
Het |
| Dock5 |
A |
T |
14: 68,018,485 (GRCm39) |
F1230Y |
probably benign |
Het |
| Dst |
T |
C |
1: 34,045,305 (GRCm39) |
S13P |
possibly damaging |
Het |
| Dym |
G |
A |
18: 75,176,243 (GRCm39) |
E15K |
possibly damaging |
Het |
| Faf1 |
A |
G |
4: 109,593,821 (GRCm39) |
Q133R |
probably benign |
Het |
| Fcer2a |
T |
C |
8: 3,738,111 (GRCm39) |
|
probably benign |
Het |
| Fmo2 |
A |
T |
1: 162,713,893 (GRCm39) |
S204R |
probably benign |
Het |
| Ghitm |
A |
G |
14: 36,853,549 (GRCm39) |
L97P |
probably damaging |
Het |
| Gins4 |
A |
G |
8: 23,719,526 (GRCm39) |
|
probably benign |
Het |
| Gm10573 |
G |
A |
4: 121,754,005 (GRCm39) |
|
|
Het |
| Golga3 |
T |
A |
5: 110,350,643 (GRCm39) |
F766Y |
possibly damaging |
Het |
| Hapln1 |
T |
C |
13: 89,755,997 (GRCm39) |
I267T |
probably benign |
Het |
| Helz |
A |
T |
11: 107,563,384 (GRCm39) |
|
probably benign |
Het |
| Igll1 |
A |
T |
16: 16,681,740 (GRCm39) |
V5E |
probably benign |
Het |
| Kif16b |
A |
G |
2: 142,699,225 (GRCm39) |
|
probably null |
Het |
| Limk1 |
A |
T |
5: 134,688,725 (GRCm39) |
W507R |
probably damaging |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Mtif3 |
C |
A |
5: 146,893,731 (GRCm39) |
V159F |
probably benign |
Het |
| Ncoa7 |
T |
A |
10: 30,523,537 (GRCm39) |
D887V |
probably damaging |
Het |
| Pkd1 |
G |
C |
17: 24,783,677 (GRCm39) |
A162P |
probably benign |
Het |
| Plce1 |
A |
G |
19: 38,513,628 (GRCm39) |
D309G |
possibly damaging |
Het |
| Plk4 |
T |
C |
3: 40,760,307 (GRCm39) |
V401A |
probably benign |
Het |
| Prrc2c |
C |
T |
1: 162,526,453 (GRCm39) |
V253I |
unknown |
Het |
| Ranbp2 |
T |
A |
10: 58,316,353 (GRCm39) |
S2358T |
probably damaging |
Het |
| Setd2 |
T |
A |
9: 110,423,494 (GRCm39) |
V2183E |
probably damaging |
Het |
| Sgsm1 |
T |
A |
5: 113,432,953 (GRCm39) |
S232C |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,904,012 (GRCm39) |
|
probably benign |
Het |
| Slc15a2 |
A |
G |
16: 36,574,909 (GRCm39) |
I531T |
probably benign |
Het |
| Slc36a1 |
C |
T |
11: 55,112,820 (GRCm39) |
|
probably benign |
Het |
| Sptan1 |
T |
C |
2: 29,883,708 (GRCm39) |
|
probably null |
Het |
| Tex15 |
C |
T |
8: 34,071,530 (GRCm39) |
|
probably benign |
Het |
| Tlr9 |
T |
G |
9: 106,102,164 (GRCm39) |
L485R |
possibly damaging |
Het |
| Tmem207 |
A |
G |
16: 26,343,579 (GRCm39) |
|
probably benign |
Het |
| Triml2 |
T |
C |
8: 43,638,306 (GRCm39) |
|
probably benign |
Het |
| Tspear |
T |
C |
10: 77,705,465 (GRCm39) |
F288L |
probably benign |
Het |
| Zfp644 |
A |
T |
5: 106,784,869 (GRCm39) |
S559R |
possibly damaging |
Het |
|
| Other mutations in Dazap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03151:Dazap1
|
APN |
10 |
80,116,754 (GRCm39) |
splice site |
probably benign |
|
|
R0058:Dazap1
|
UTSW |
10 |
80,097,415 (GRCm39) |
splice site |
probably benign |
|
|
R0131:Dazap1
|
UTSW |
10 |
80,114,060 (GRCm39) |
splice site |
probably null |
|
|
R0132:Dazap1
|
UTSW |
10 |
80,114,060 (GRCm39) |
splice site |
probably null |
|
|
R0938:Dazap1
|
UTSW |
10 |
80,116,795 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1976:Dazap1
|
UTSW |
10 |
80,110,454 (GRCm39) |
splice site |
probably null |
|
|
R2233:Dazap1
|
UTSW |
10 |
80,113,433 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2234:Dazap1
|
UTSW |
10 |
80,113,433 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2326:Dazap1
|
UTSW |
10 |
80,120,067 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3619:Dazap1
|
UTSW |
10 |
80,121,194 (GRCm39) |
unclassified |
probably benign |
|
|
R3747:Dazap1
|
UTSW |
10 |
80,123,498 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6009:Dazap1
|
UTSW |
10 |
80,121,138 (GRCm39) |
unclassified |
probably benign |
|
|
R6324:Dazap1
|
UTSW |
10 |
80,113,494 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6484:Dazap1
|
UTSW |
10 |
80,113,481 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9628:Dazap1
|
UTSW |
10 |
80,118,999 (GRCm39) |
missense |
unknown |
|
|
R9758:Dazap1
|
UTSW |
10 |
80,113,440 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2013-01-20 |
Incidental Mutation