Incidental Mutation 'IGL00159:Dzip1l'
| ID |
306567 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dzip1l
|
| Ensembl Gene |
ENSMUSG00000037784 |
| Gene Name |
DAZ interacting protein 1-like |
| Synonyms |
2610524A10Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.290)
|
| Stock # |
IGL00159
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
99511549-99551309 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 99519830 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 119
(L119Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078367]
[ENSMUST00000112884]
[ENSMUST00000112885]
[ENSMUST00000112886]
[ENSMUST00000131095]
|
| AlphaFold |
Q499E4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078367
AA Change: L119Q
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000077475
Gene: ENSMUSG00000037784
AA Change: L119Q
| 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 |
possibly damaging
Transcript: ENSMUST00000112884
AA Change: L119Q
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108505
Gene: ENSMUSG00000037784
AA Change: L119Q
| 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 |
possibly damaging
Transcript: ENSMUST00000112885
AA Change: L119Q
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108506
Gene: ENSMUSG00000037784
AA Change: L119Q
| 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 |
possibly damaging
Transcript: ENSMUST00000112886
AA Change: L119Q
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108507
Gene: ENSMUSG00000037784
AA Change: L119Q
| 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 damaging
Transcript: ENSMUST00000131095
AA Change: L119Q
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116647
Gene: ENSMUSG00000037784
AA Change: L119Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dzip-like_N
|
24 |
125 |
6.3e-44 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Axin1 |
A |
T |
17: 26,361,779 (GRCm39) |
D41V |
possibly damaging |
Het |
| BC034090 |
C |
A |
1: 155,101,197 (GRCm39) |
E718* |
probably null |
Het |
| Cdc123 |
G |
T |
2: 5,809,746 (GRCm39) |
Q222K |
probably benign |
Het |
| Clip1 |
A |
C |
5: 123,741,717 (GRCm39) |
V1053G |
possibly damaging |
Het |
| Dock7 |
T |
A |
4: 98,952,222 (GRCm39) |
E416V |
probably damaging |
Het |
| Dydc1 |
T |
C |
14: 40,809,370 (GRCm39) |
L143P |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,158,839 (GRCm39) |
V732A |
probably benign |
Het |
| Erp27 |
T |
A |
6: 136,886,500 (GRCm39) |
S178C |
probably damaging |
Het |
| Fbn1 |
A |
G |
2: 125,239,793 (GRCm39) |
V298A |
probably benign |
Het |
| Fbxo34 |
A |
G |
14: 47,766,931 (GRCm39) |
H97R |
probably damaging |
Het |
| Gm20521 |
C |
T |
14: 55,122,079 (GRCm39) |
Q81* |
probably null |
Het |
| Gspt1 |
T |
C |
16: 11,040,476 (GRCm39) |
M610V |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,344,964 (GRCm39) |
Q1919R |
possibly damaging |
Het |
| Il19 |
A |
G |
1: 130,862,792 (GRCm39) |
|
probably benign |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,632,002 (GRCm39) |
K1309E |
possibly damaging |
Het |
| Lurap1 |
T |
C |
4: 115,994,887 (GRCm39) |
T115A |
probably damaging |
Het |
| Myo18b |
G |
T |
5: 113,021,997 (GRCm39) |
T465K |
probably benign |
Het |
| Nwd1 |
A |
T |
8: 73,397,705 (GRCm39) |
D648V |
probably damaging |
Het |
| Or13c25 |
T |
G |
4: 52,911,618 (GRCm39) |
M59L |
possibly damaging |
Het |
| Or2at4 |
G |
A |
7: 99,384,524 (GRCm39) |
R58H |
probably benign |
Het |
| Otof |
T |
C |
5: 30,533,248 (GRCm39) |
Y1527C |
probably damaging |
Het |
| Otop3 |
G |
A |
11: 115,235,223 (GRCm39) |
C285Y |
probably damaging |
Het |
| Parp3 |
A |
G |
9: 106,348,586 (GRCm39) |
I478T |
probably benign |
Het |
| Pdzd2 |
C |
T |
15: 12,458,069 (GRCm39) |
E265K |
possibly damaging |
Het |
| Pik3c2g |
T |
C |
6: 139,841,851 (GRCm39) |
L634P |
probably damaging |
Het |
| Prkg1 |
C |
A |
19: 31,279,740 (GRCm39) |
V165L |
probably benign |
Het |
| Riok3 |
A |
G |
18: 12,281,948 (GRCm39) |
I306V |
possibly damaging |
Het |
| Ror2 |
T |
C |
13: 53,267,118 (GRCm39) |
D439G |
probably benign |
Het |
| Scn2a |
T |
A |
2: 65,573,434 (GRCm39) |
I1428N |
probably damaging |
Het |
| Sgcg |
C |
T |
14: 61,469,924 (GRCm39) |
D146N |
probably benign |
Het |
| Skic3 |
T |
C |
13: 76,291,397 (GRCm39) |
|
probably null |
Het |
| Slc16a9 |
A |
G |
10: 70,118,529 (GRCm39) |
R283G |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,668,105 (GRCm39) |
D664G |
probably benign |
Het |
| Tmprss3 |
T |
A |
17: 31,413,982 (GRCm39) |
D54V |
probably damaging |
Het |
| Tubd1 |
G |
T |
11: 86,456,555 (GRCm39) |
V374F |
probably benign |
Het |
| Vmn2r57 |
A |
T |
7: 41,078,209 (GRCm39) |
M83K |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,853,281 (GRCm39) |
E2458G |
probably benign |
Het |
| Vps35l |
G |
A |
7: 118,396,270 (GRCm39) |
|
probably null |
Het |
| Zhx2 |
A |
T |
15: 57,686,266 (GRCm39) |
E545V |
probably damaging |
Het |
|
| Other mutations in Dzip1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R2911:Dzip1l
|
UTSW |
9 |
99,537,655 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation