Incidental Mutation 'R2911:Dzip1l'
| ID |
261256 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dzip1l
|
| Ensembl Gene |
ENSMUSG00000037784 |
| Gene Name |
DAZ interacting protein 1-like |
| Synonyms |
2610524A10Rik |
| MMRRC Submission |
040498-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.290)
|
| Stock # |
R2911 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
99511549-99551309 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 99537655 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 419
(V419A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108507
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078367]
[ENSMUST00000112884]
[ENSMUST00000112885]
[ENSMUST00000112886]
|
| AlphaFold |
Q499E4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078367
AA Change: V419A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000077475
Gene: ENSMUSG00000037784
AA Change: V419A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dzip-like_N
|
24 |
144 |
5e-48 |
PFAM |
|
low complexity region
|
153 |
159 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
166 |
189 |
3.34e-2 |
SMART |
|
low complexity region
|
221 |
238 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
242 |
411 |
2e-3 |
SMART |
|
low complexity region
|
422 |
441 |
N/A |
INTRINSIC |
|
low complexity region
|
597 |
622 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112884
AA Change: V419A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000108505
Gene: ENSMUSG00000037784
AA Change: V419A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dzip-like_N
|
24 |
144 |
9.8e-48 |
PFAM |
|
low complexity region
|
153 |
159 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
166 |
189 |
3.34e-2 |
SMART |
|
low complexity region
|
221 |
238 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
242 |
411 |
2e-3 |
SMART |
|
low complexity region
|
422 |
441 |
N/A |
INTRINSIC |
|
low complexity region
|
597 |
621 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112885
AA Change: V419A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000108506
Gene: ENSMUSG00000037784
AA Change: V419A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dzip-like_N
|
24 |
144 |
9.8e-48 |
PFAM |
|
low complexity region
|
153 |
159 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
166 |
189 |
3.34e-2 |
SMART |
|
low complexity region
|
221 |
238 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
242 |
411 |
2e-3 |
SMART |
|
low complexity region
|
422 |
441 |
N/A |
INTRINSIC |
|
low complexity region
|
597 |
622 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112886
AA Change: V419A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000108507
Gene: ENSMUSG00000037784
AA Change: V419A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dzip-like_N
|
24 |
144 |
9.8e-48 |
PFAM |
|
low complexity region
|
153 |
159 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
166 |
189 |
3.34e-2 |
SMART |
|
low complexity region
|
221 |
238 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
242 |
411 |
2e-3 |
SMART |
|
low complexity region
|
422 |
441 |
N/A |
INTRINSIC |
|
low complexity region
|
597 |
621 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134969
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190893
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
A |
G |
16: 20,378,982 (GRCm39) |
T645A |
probably damaging |
Het |
| Adam10 |
C |
T |
9: 70,626,005 (GRCm39) |
S91L |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,989,018 (GRCm39) |
D3434G |
probably damaging |
Het |
| Ankrd11 |
A |
T |
8: 123,635,537 (GRCm39) |
D32E |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,497,553 (GRCm39) |
|
probably null |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cep104 |
T |
A |
4: 154,079,884 (GRCm39) |
|
probably null |
Het |
| Clstn2 |
A |
G |
9: 97,414,775 (GRCm39) |
V373A |
probably damaging |
Het |
| Cyp2c65 |
T |
G |
19: 39,076,126 (GRCm39) |
I359M |
probably damaging |
Het |
| Cyp4a12b |
A |
T |
4: 115,290,723 (GRCm39) |
K282* |
probably null |
Het |
| Ddx1 |
C |
T |
12: 13,281,441 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
T |
1: 53,466,983 (GRCm39) |
|
probably null |
Het |
| Epha3 |
A |
C |
16: 63,472,775 (GRCm39) |
V370G |
probably benign |
Het |
| Fbxo38 |
T |
C |
18: 62,652,878 (GRCm39) |
D523G |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,207,799 (GRCm39) |
D2457G |
probably damaging |
Het |
| Gm379 |
A |
C |
X: 107,708,371 (GRCm39) |
F43V |
possibly damaging |
Het |
| Grhl3 |
T |
C |
4: 135,286,457 (GRCm39) |
I75V |
probably benign |
Het |
| Lcp2 |
G |
A |
11: 34,018,970 (GRCm39) |
|
probably null |
Het |
| Lipo3 |
T |
A |
19: 33,556,767 (GRCm39) |
I220F |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,396,704 (GRCm39) |
E340G |
probably benign |
Het |
| Lypd8l |
G |
A |
11: 58,499,252 (GRCm39) |
Q189* |
probably null |
Het |
| Mbtps1 |
A |
G |
8: 120,272,776 (GRCm39) |
I123T |
possibly damaging |
Het |
| Ndc80 |
A |
T |
17: 71,807,371 (GRCm39) |
S528R |
probably benign |
Het |
| Odf2l |
A |
C |
3: 144,830,084 (GRCm39) |
I19L |
probably benign |
Het |
| Or10d3 |
T |
C |
9: 39,462,117 (GRCm39) |
I17V |
possibly damaging |
Het |
| Or5h25 |
C |
T |
16: 58,930,544 (GRCm39) |
R143H |
probably benign |
Het |
| Or7e177 |
A |
G |
9: 20,211,775 (GRCm39) |
K94R |
possibly damaging |
Het |
| Pigr |
A |
G |
1: 130,777,270 (GRCm39) |
D692G |
probably damaging |
Het |
| Reep2 |
T |
C |
18: 34,978,743 (GRCm39) |
|
probably null |
Het |
| Rin3 |
T |
G |
12: 102,339,843 (GRCm39) |
S598A |
probably benign |
Het |
| Rreb1 |
A |
T |
13: 38,132,896 (GRCm39) |
E1690D |
probably benign |
Het |
| Rubcnl |
C |
T |
14: 75,278,248 (GRCm39) |
T344I |
probably benign |
Het |
| Shcbp1l |
C |
A |
1: 153,304,372 (GRCm39) |
L144I |
probably damaging |
Het |
| Snx2 |
C |
T |
18: 53,332,946 (GRCm39) |
P207S |
probably damaging |
Het |
| Sox17 |
A |
T |
1: 4,563,354 (GRCm39) |
D92E |
probably damaging |
Het |
| Spata21 |
A |
G |
4: 140,830,393 (GRCm39) |
M288V |
possibly damaging |
Het |
| Sra1 |
T |
C |
18: 36,809,238 (GRCm39) |
D273G |
possibly damaging |
Het |
| Syt7 |
T |
C |
19: 10,420,799 (GRCm39) |
I448T |
probably benign |
Het |
| Tac1 |
A |
G |
6: 7,559,097 (GRCm39) |
|
probably null |
Het |
| Tgs1 |
C |
A |
4: 3,585,616 (GRCm39) |
N164K |
probably benign |
Het |
| Tmem72 |
T |
A |
6: 116,675,292 (GRCm39) |
I67F |
possibly damaging |
Het |
| Ythdc1 |
T |
C |
5: 86,964,418 (GRCm39) |
S88P |
possibly damaging |
Het |
|
| Other mutations in Dzip1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00159:Dzip1l
|
APN |
9 |
99,519,830 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01992:Dzip1l
|
APN |
9 |
99,545,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0276:Dzip1l
|
UTSW |
9 |
99,543,051 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0506:Dzip1l
|
UTSW |
9 |
99,545,134 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1469:Dzip1l
|
UTSW |
9 |
99,541,829 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1469:Dzip1l
|
UTSW |
9 |
99,541,829 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2904:Dzip1l
|
UTSW |
9 |
99,545,722 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2905:Dzip1l
|
UTSW |
9 |
99,545,722 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3106:Dzip1l
|
UTSW |
9 |
99,529,174 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3106:Dzip1l
|
UTSW |
9 |
99,524,625 (GRCm39) |
nonsense |
probably null |
|
|
R4394:Dzip1l
|
UTSW |
9 |
99,521,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4570:Dzip1l
|
UTSW |
9 |
99,529,221 (GRCm39) |
nonsense |
probably null |
|
|
R4579:Dzip1l
|
UTSW |
9 |
99,529,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4695:Dzip1l
|
UTSW |
9 |
99,529,258 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4696:Dzip1l
|
UTSW |
9 |
99,545,664 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4748:Dzip1l
|
UTSW |
9 |
99,524,704 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5063:Dzip1l
|
UTSW |
9 |
99,549,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5747:Dzip1l
|
UTSW |
9 |
99,521,862 (GRCm39) |
splice site |
probably null |
|
|
R6089:Dzip1l
|
UTSW |
9 |
99,524,737 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7030:Dzip1l
|
UTSW |
9 |
99,547,888 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7454:Dzip1l
|
UTSW |
9 |
99,541,727 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7485:Dzip1l
|
UTSW |
9 |
99,543,065 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7706:Dzip1l
|
UTSW |
9 |
99,519,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7734:Dzip1l
|
UTSW |
9 |
99,549,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7790:Dzip1l
|
UTSW |
9 |
99,543,015 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8463:Dzip1l
|
UTSW |
9 |
99,519,875 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9001:Dzip1l
|
UTSW |
9 |
99,523,907 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9355:Dzip1l
|
UTSW |
9 |
99,543,144 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9511:Dzip1l
|
UTSW |
9 |
99,519,710 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1176:Dzip1l
|
UTSW |
9 |
99,523,814 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
Z1177:Dzip1l
|
UTSW |
9 |
99,547,907 (GRCm39) |
missense |
probably null |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTTCTTCAGGCCCGTCTTTG -3'
(R):5'- ACACCACAGTTTCACGTGTC -3'
Sequencing Primer
(F):5'- AGATGTGAACCGGATCTTTCTGCC -3'
(R):5'- AGAGGTCCTGAGTTCAATCCC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation