Incidental Mutation 'R0938:Dazap1'
ID |
81252 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dazap1
|
Ensembl Gene |
ENSMUSG00000069565 |
Gene Name |
DAZ associated protein 1 |
Synonyms |
2410042M16Rik, mPrrp |
MMRRC Submission |
039077-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.473)
|
Stock # |
R0938 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
80097320-80124242 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 80116795 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 165
(S165P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101000
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092305]
[ENSMUST00000105361]
[ENSMUST00000105362]
[ENSMUST00000156935]
|
AlphaFold |
Q9JII5 |
Predicted Effect |
unknown
Transcript: ENSMUST00000092305
AA Change: S166P
|
SMART Domains |
Protein: ENSMUSP00000089958 Gene: ENSMUSG00000069565 AA Change: S166P
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 |
possibly damaging
Transcript: ENSMUST00000105361
AA Change: S165P
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000101000 Gene: ENSMUSG00000069565 AA Change: S165P
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 |
unknown
Transcript: ENSMUST00000105362
AA Change: S165P
|
SMART Domains |
Protein: ENSMUSP00000101001 Gene: ENSMUSG00000069565 AA Change: S165P
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 |
noncoding transcript
Transcript: ENSMUST00000135434
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138032
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150328
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156935
AA Change: S157P
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000117497 Gene: ENSMUSG00000069565 AA Change: S157P
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: ENSMUST00000184241
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151619
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 95.7%
- 20x: 88.1%
|
Validation Efficiency |
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bcan |
A |
G |
3: 87,900,461 (GRCm39) |
S591P |
possibly damaging |
Het |
Chfr |
T |
C |
5: 110,311,924 (GRCm39) |
L579P |
probably damaging |
Het |
Dab2 |
C |
T |
15: 6,464,865 (GRCm39) |
T439I |
probably benign |
Het |
Dlx2 |
C |
A |
2: 71,375,012 (GRCm39) |
W284L |
possibly damaging |
Het |
Dync2h1 |
A |
T |
9: 7,002,658 (GRCm39) |
N3803K |
probably benign |
Het |
Dynlrb2 |
A |
C |
8: 117,241,707 (GRCm39) |
|
probably null |
Het |
Fhl2 |
A |
G |
1: 43,180,866 (GRCm39) |
I108T |
possibly damaging |
Het |
Fntb |
A |
G |
12: 76,963,214 (GRCm39) |
Y399C |
probably damaging |
Het |
Galnt18 |
T |
C |
7: 111,119,206 (GRCm39) |
I438M |
possibly damaging |
Het |
Gnmt |
A |
G |
17: 47,037,271 (GRCm39) |
L171P |
probably damaging |
Het |
Gpc1 |
G |
A |
1: 92,785,031 (GRCm39) |
R358H |
possibly damaging |
Het |
Ifi204 |
A |
T |
1: 173,579,311 (GRCm39) |
N511K |
possibly damaging |
Het |
Klhl1 |
A |
T |
14: 96,389,476 (GRCm39) |
Y559* |
probably null |
Het |
Mob1b |
T |
A |
5: 88,897,452 (GRCm39) |
I120N |
probably damaging |
Het |
Mybpc2 |
T |
C |
7: 44,156,311 (GRCm39) |
K834R |
probably benign |
Het |
Oosp2 |
G |
A |
19: 11,628,904 (GRCm39) |
Q66* |
probably null |
Het |
P4ha2 |
A |
G |
11: 54,010,148 (GRCm39) |
K302E |
possibly damaging |
Het |
Pard6g |
C |
T |
18: 80,123,259 (GRCm39) |
R98* |
probably null |
Het |
Pkdrej |
G |
A |
15: 85,702,364 (GRCm39) |
P1191S |
probably damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Smim29 |
T |
C |
17: 27,783,368 (GRCm39) |
K43R |
possibly damaging |
Het |
Ubap2 |
A |
C |
4: 41,202,304 (GRCm39) |
L708R |
probably damaging |
Het |
Zfp638 |
G |
A |
6: 83,961,023 (GRCm39) |
V1204I |
probably benign |
Het |
Zfp865 |
G |
T |
7: 5,034,403 (GRCm39) |
C796F |
possibly damaging |
Het |
Zmiz2 |
A |
T |
11: 6,347,185 (GRCm39) |
M237L |
probably benign |
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 |
|
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCTGCGAAGCGAATTGCAAAC -3'
(R):5'- GGCAACACTAGGGTCTCACTGAAAG -3'
Sequencing Primer
(F):5'- AAGGGTGAATGTCACCTACTGTC -3'
(R):5'- GGTCTCACTGAAAGCCCCC -3'
|
Posted On |
2013-11-07 |