Incidental Mutation 'IGL01791:Cdip1'
| ID |
155211 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cdip1
|
| Ensembl Gene |
ENSMUSG00000004071 |
| Gene Name |
cell death inducing Trp53 target 1 |
| Synonyms |
CDIP, 2700048O17Rik, 5730403B10Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.331)
|
| Stock # |
IGL01791
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
4583325-4608156 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4586729 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 122
(I122T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120143
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004172]
[ENSMUST00000004173]
[ENSMUST00000117713]
[ENSMUST00000118703]
[ENSMUST00000118885]
[ENSMUST00000120232]
[ENSMUST00000121529]
[ENSMUST00000147225]
[ENSMUST00000154117]
[ENSMUST00000140367]
|
| AlphaFold |
Q9DB75 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004172
|
| SMART Domains |
Protein: ENSMUSP00000004172
Gene: ENSMUSG00000004070
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Heme_oxygenase
|
30 |
235 |
2e-83 |
PFAM |
|
transmembrane domain
|
295 |
314 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004173
AA Change: I132T
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000004173
Gene: ENSMUSG00000004071
AA Change: I132T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
51 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
77 |
110 |
N/A |
INTRINSIC |
|
LITAF
|
137 |
206 |
4.1e-24 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117713
AA Change: I115T
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113618
Gene: ENSMUSG00000004071
AA Change: I115T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
51 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
93 |
N/A |
INTRINSIC |
|
LITAF
|
120 |
189 |
4.1e-24 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118703
AA Change: I132T
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113889
Gene: ENSMUSG00000004071
AA Change: I132T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
51 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
77 |
110 |
N/A |
INTRINSIC |
|
LITAF
|
137 |
206 |
4.1e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118885
|
| SMART Domains |
Protein: ENSMUSP00000113110
Gene: ENSMUSG00000004070
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Heme_oxygenase
|
30 |
235 |
2e-83 |
PFAM |
|
transmembrane domain
|
295 |
314 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120232
|
| SMART Domains |
Protein: ENSMUSP00000112397
Gene: ENSMUSG00000004070
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Heme_oxygenase
|
30 |
235 |
2e-83 |
PFAM |
|
transmembrane domain
|
295 |
314 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121529
|
| SMART Domains |
Protein: ENSMUSP00000112378
Gene: ENSMUSG00000004070
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Heme_oxygenase
|
30 |
228 |
6.8e-81 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147225
AA Change: I122T
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120143
Gene: ENSMUSG00000004071
AA Change: I122T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
100 |
N/A |
INTRINSIC |
|
Pfam:zf-LITAF-like
|
123 |
163 |
3.7e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152667
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140187
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154117
|
| SMART Domains |
Protein: ENSMUSP00000122699
Gene: ENSMUSG00000004070
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Heme_oxygenase
|
1 |
65 |
1.9e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140367
|
| SMART Domains |
Protein: ENSMUSP00000115932
Gene: ENSMUSG00000004070
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Heme_oxygenase
|
30 |
93 |
1.6e-21 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap32 |
A |
G |
9: 32,158,486 (GRCm39) |
I174V |
probably damaging |
Het |
| Asb15 |
T |
A |
6: 24,567,211 (GRCm39) |
C511S |
probably damaging |
Het |
| Atr |
C |
T |
9: 95,803,834 (GRCm39) |
A1896V |
probably benign |
Het |
| B3gnt4 |
C |
T |
5: 123,649,162 (GRCm39) |
R176C |
probably damaging |
Het |
| Brf1 |
T |
C |
12: 112,926,095 (GRCm39) |
D557G |
probably benign |
Het |
| Catsperg2 |
T |
A |
7: 29,404,090 (GRCm39) |
|
probably null |
Het |
| Ctrl |
C |
T |
8: 106,659,199 (GRCm39) |
E147K |
probably benign |
Het |
| Dennd2c |
T |
C |
3: 103,073,741 (GRCm39) |
V829A |
probably benign |
Het |
| Dync1h1 |
T |
A |
12: 110,625,364 (GRCm39) |
L3874Q |
probably damaging |
Het |
| Dynlt4 |
T |
A |
4: 116,985,794 (GRCm39) |
S206T |
probably damaging |
Het |
| Gm10521 |
T |
C |
1: 171,723,964 (GRCm39) |
S92P |
unknown |
Het |
| Gm57858 |
T |
C |
3: 36,089,416 (GRCm39) |
|
probably benign |
Het |
| Gzf1 |
G |
A |
2: 148,525,981 (GRCm39) |
A151T |
probably benign |
Het |
| Hddc2 |
A |
G |
10: 31,202,022 (GRCm39) |
Y123C |
probably damaging |
Het |
| Hyal4 |
T |
C |
6: 24,763,894 (GRCm39) |
|
probably benign |
Het |
| Ighv16-1 |
T |
C |
12: 114,032,589 (GRCm39) |
N71S |
probably benign |
Het |
| Ing2 |
A |
T |
8: 48,122,070 (GRCm39) |
S159R |
probably benign |
Het |
| Itga1 |
A |
T |
13: 115,124,197 (GRCm39) |
N698K |
probably benign |
Het |
| Lemd2 |
A |
T |
17: 27,409,702 (GRCm39) |
I483N |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,809,887 (GRCm39) |
L519P |
probably damaging |
Het |
| Mapk10 |
T |
C |
5: 103,144,514 (GRCm39) |
N101S |
probably damaging |
Het |
| Nfatc4 |
A |
T |
14: 56,069,695 (GRCm39) |
E164V |
probably null |
Het |
| Nfkb2 |
T |
G |
19: 46,298,278 (GRCm39) |
|
probably benign |
Het |
| Nox3 |
A |
G |
17: 3,733,218 (GRCm39) |
V231A |
possibly damaging |
Het |
| Nup160 |
G |
A |
2: 90,534,197 (GRCm39) |
G674D |
probably damaging |
Het |
| Or1l4b |
A |
T |
2: 37,036,548 (GRCm39) |
D108V |
probably damaging |
Het |
| Or56b1 |
C |
T |
7: 104,285,682 (GRCm39) |
T267I |
possibly damaging |
Het |
| Otoa |
T |
G |
7: 120,755,072 (GRCm39) |
V998G |
probably benign |
Het |
| Pcnx3 |
A |
T |
19: 5,723,295 (GRCm39) |
M1300K |
probably benign |
Het |
| Pde4b |
A |
G |
4: 102,448,127 (GRCm39) |
|
probably benign |
Het |
| Rfc1 |
T |
A |
5: 65,420,488 (GRCm39) |
K1104I |
probably benign |
Het |
| Serpina1f |
G |
T |
12: 103,659,761 (GRCm39) |
Q174K |
probably damaging |
Het |
| Serping1 |
T |
C |
2: 84,603,721 (GRCm39) |
N107D |
possibly damaging |
Het |
| Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
| Surf6 |
A |
G |
2: 26,789,759 (GRCm39) |
S94P |
probably benign |
Het |
| Tigd4 |
T |
A |
3: 84,502,052 (GRCm39) |
I323N |
probably damaging |
Het |
| Vmn2r28 |
T |
C |
7: 5,491,161 (GRCm39) |
D362G |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,085,278 (GRCm39) |
S739P |
probably damaging |
Het |
|
| Other mutations in Cdip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02403:Cdip1
|
APN |
16 |
4,586,676 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1490:Cdip1
|
UTSW |
16 |
4,586,775 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2191:Cdip1
|
UTSW |
16 |
4,587,927 (GRCm39) |
missense |
probably benign |
|
|
R5547:Cdip1
|
UTSW |
16 |
4,587,988 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5669:Cdip1
|
UTSW |
16 |
4,586,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5982:Cdip1
|
UTSW |
16 |
4,587,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7934:Cdip1
|
UTSW |
16 |
4,586,422 (GRCm39) |
missense |
probably benign |
0.39 |
|
| Posted On |
2014-02-04 |
Incidental Mutation