Incidental Mutation 'R2326:Dazap1'
| ID |
244924 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dazap1
|
| Ensembl Gene |
ENSMUSG00000069565 |
| Gene Name |
DAZ associated protein 1 |
| Synonyms |
2410042M16Rik, mPrrp |
| MMRRC Submission |
040317-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.473)
|
| Stock # |
R2326 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
80097320-80124242 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80120067 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 234
(M234K)
|
| 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: M235K
|
| SMART Domains |
Protein: ENSMUSP00000089958
Gene: ENSMUSG00000069565
AA Change: M235K
| 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: M234K
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000101000
Gene: ENSMUSG00000069565
AA Change: M234K
| 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: M234K
|
| SMART Domains |
Protein: ENSMUSP00000101001
Gene: ENSMUSG00000069565
AA Change: M234K
| 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: ENSMUST00000151619
|
| 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 |
|
| Meta Mutation Damage Score |
0.1249 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (31/31) |
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bglap3 |
G |
C |
3: 88,276,819 (GRCm39) |
|
probably benign |
Het |
| Cdh3 |
A |
G |
8: 107,237,940 (GRCm39) |
T45A |
probably benign |
Het |
| Cdyl2 |
A |
G |
8: 117,350,537 (GRCm39) |
V198A |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,268,396 (GRCm39) |
I443K |
probably benign |
Het |
| Dnmt1 |
A |
T |
9: 20,835,442 (GRCm39) |
|
probably benign |
Het |
| Dusp8 |
A |
G |
7: 141,643,800 (GRCm39) |
Y38H |
probably damaging |
Het |
| Ewsr1 |
A |
G |
11: 5,041,857 (GRCm39) |
|
probably null |
Het |
| Fem1b |
T |
C |
9: 62,704,285 (GRCm39) |
H325R |
probably damaging |
Het |
| Flrt3 |
C |
A |
2: 140,503,311 (GRCm39) |
V106F |
possibly damaging |
Het |
| Foxp2 |
T |
A |
6: 15,409,938 (GRCm39) |
S513T |
possibly damaging |
Het |
| Gm5600 |
G |
T |
7: 113,307,041 (GRCm39) |
|
noncoding transcript |
Het |
| Haspin |
A |
G |
11: 73,026,911 (GRCm39) |
I726T |
probably benign |
Het |
| Lama4 |
T |
A |
10: 38,918,563 (GRCm39) |
|
probably null |
Het |
| Lrrc7 |
A |
T |
3: 157,876,298 (GRCm39) |
H597Q |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Plcb4 |
C |
T |
2: 135,781,893 (GRCm39) |
T238M |
probably damaging |
Het |
| Plekhd1 |
A |
G |
12: 80,768,873 (GRCm39) |
|
probably null |
Het |
| Prph |
C |
G |
15: 98,953,163 (GRCm39) |
|
probably benign |
Het |
| Rassf2 |
C |
T |
2: 131,842,352 (GRCm39) |
|
probably null |
Het |
| Saal1 |
A |
G |
7: 46,342,235 (GRCm39) |
F403L |
probably benign |
Het |
| Serpina3a |
C |
T |
12: 104,082,758 (GRCm39) |
T177I |
probably benign |
Het |
| Slc23a2 |
C |
T |
2: 131,936,115 (GRCm39) |
E52K |
possibly damaging |
Het |
| Stab2 |
T |
A |
10: 86,790,338 (GRCm39) |
|
probably null |
Het |
| Syne3 |
T |
A |
12: 104,935,493 (GRCm39) |
E95V |
probably damaging |
Het |
| Vmn1r58 |
G |
T |
7: 5,413,939 (GRCm39) |
T97N |
probably damaging |
Het |
| Vmn2r61 |
T |
G |
7: 41,916,287 (GRCm39) |
L300W |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,720,421 (GRCm39) |
E388G |
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 |
|
|
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 |
|
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'- TCTGGGAAGAGCTGCTTAAGG -3'
(R):5'- ACTCACTGAACTGTGGTGGG -3'
Sequencing Primer
(F):5'- ATCTTGGTGCAGCAGAGC -3'
(R):5'- TCCAGGCGGTGTGGATAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation