Incidental Mutation 'R4178:Iqcd'
| ID |
319587 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqcd
|
| Ensembl Gene |
ENSMUSG00000029601 |
| Gene Name |
IQ motif containing D |
| Synonyms |
4933433C09Rik |
| MMRRC Submission |
040864-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R4178 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
120727081-120745183 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 120740476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 269
(T269K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069259]
[ENSMUST00000094391]
[ENSMUST00000111884]
[ENSMUST00000156356]
|
| AlphaFold |
Q9D3V1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069259
AA Change: T269K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000069167
Gene: ENSMUSG00000029601
AA Change: T269K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
97 |
137 |
N/A |
INTRINSIC |
|
coiled coil region
|
209 |
257 |
N/A |
INTRINSIC |
|
coiled coil region
|
298 |
348 |
N/A |
INTRINSIC |
|
IQ
|
363 |
385 |
5.53e-4 |
SMART |
|
low complexity region
|
387 |
425 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094391
AA Change: T269K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091955
Gene: ENSMUSG00000029601
AA Change: T269K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
97 |
137 |
N/A |
INTRINSIC |
|
coiled coil region
|
209 |
257 |
N/A |
INTRINSIC |
|
coiled coil region
|
331 |
381 |
N/A |
INTRINSIC |
|
IQ
|
396 |
418 |
5.53e-4 |
SMART |
|
low complexity region
|
420 |
458 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111884
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136070
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147596
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156356
|
| SMART Domains |
Protein: ENSMUSP00000122910
Gene: ENSMUSG00000029600
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
81 |
91 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Antxrl |
A |
G |
14: 33,776,928 (GRCm39) |
|
probably null |
Het |
| Atp2b2 |
A |
T |
6: 113,770,679 (GRCm39) |
V410E |
probably damaging |
Het |
| C6 |
G |
A |
15: 4,764,621 (GRCm39) |
V106I |
probably benign |
Het |
| Cdhr1 |
A |
C |
14: 36,804,896 (GRCm39) |
|
probably null |
Het |
| Cfap44 |
T |
A |
16: 44,272,216 (GRCm39) |
L1323Q |
possibly damaging |
Het |
| Ehd4 |
T |
A |
2: 119,984,829 (GRCm39) |
Y43F |
probably damaging |
Het |
| Eno1 |
T |
C |
4: 150,328,490 (GRCm39) |
I90T |
possibly damaging |
Het |
| Epb41l1 |
A |
G |
2: 156,363,477 (GRCm39) |
Y662C |
probably benign |
Het |
| Fkbp14 |
A |
G |
6: 54,566,299 (GRCm39) |
L103P |
probably damaging |
Het |
| Gm10322 |
C |
A |
10: 59,452,052 (GRCm39) |
N56K |
probably benign |
Het |
| Kat6b |
T |
A |
14: 21,668,972 (GRCm39) |
C249* |
probably null |
Het |
| Kcnab2 |
T |
C |
4: 152,489,058 (GRCm39) |
R109G |
probably null |
Het |
| Obox7 |
A |
G |
7: 14,398,032 (GRCm39) |
Q24R |
probably damaging |
Het |
| Obox7 |
C |
A |
7: 14,398,031 (GRCm39) |
Q24K |
probably damaging |
Het |
| Or5p1 |
A |
G |
7: 107,916,565 (GRCm39) |
N155D |
probably damaging |
Het |
| Or5p68 |
G |
A |
7: 107,945,765 (GRCm39) |
T141I |
probably benign |
Het |
| Or8g18 |
A |
C |
9: 39,149,375 (GRCm39) |
L115* |
probably null |
Het |
| Rasgrf2 |
C |
T |
13: 92,038,717 (GRCm39) |
G1043D |
probably damaging |
Het |
| Slf1 |
A |
G |
13: 77,191,688 (GRCm39) |
S1049P |
probably damaging |
Het |
| Smc1b |
A |
T |
15: 85,004,848 (GRCm39) |
F409I |
possibly damaging |
Het |
| Tab2 |
A |
G |
10: 7,795,123 (GRCm39) |
V453A |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,120,725 (GRCm39) |
Y338C |
probably damaging |
Het |
| Usp6nl |
A |
G |
2: 6,445,787 (GRCm39) |
E588G |
probably benign |
Het |
| Vcan |
T |
C |
13: 89,873,666 (GRCm39) |
R63G |
probably damaging |
Het |
| Zfp775 |
A |
G |
6: 48,590,187 (GRCm39) |
|
probably null |
Het |
| Zfpm2 |
T |
C |
15: 40,966,940 (GRCm39) |
C1010R |
probably damaging |
Het |
|
| Other mutations in Iqcd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01953:Iqcd
|
APN |
5 |
120,738,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1420:Iqcd
|
UTSW |
5 |
120,738,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1574:Iqcd
|
UTSW |
5 |
120,738,300 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1574:Iqcd
|
UTSW |
5 |
120,738,300 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4038:Iqcd
|
UTSW |
5 |
120,740,587 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4405:Iqcd
|
UTSW |
5 |
120,740,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5326:Iqcd
|
UTSW |
5 |
120,740,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5364:Iqcd
|
UTSW |
5 |
120,738,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5656:Iqcd
|
UTSW |
5 |
120,743,191 (GRCm39) |
splice site |
probably null |
|
|
R5691:Iqcd
|
UTSW |
5 |
120,740,571 (GRCm39) |
nonsense |
probably null |
|
|
R5711:Iqcd
|
UTSW |
5 |
120,740,571 (GRCm39) |
nonsense |
probably null |
|
|
R6387:Iqcd
|
UTSW |
5 |
120,744,920 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6556:Iqcd
|
UTSW |
5 |
120,740,443 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6634:Iqcd
|
UTSW |
5 |
120,738,556 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7067:Iqcd
|
UTSW |
5 |
120,743,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7672:Iqcd
|
UTSW |
5 |
120,744,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8207:Iqcd
|
UTSW |
5 |
120,740,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8828:Iqcd
|
UTSW |
5 |
120,738,232 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9217:Iqcd
|
UTSW |
5 |
120,738,707 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9218:Iqcd
|
UTSW |
5 |
120,738,707 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9404:Iqcd
|
UTSW |
5 |
120,738,601 (GRCm39) |
missense |
|
|
|
R9525:Iqcd
|
UTSW |
5 |
120,738,217 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9667:Iqcd
|
UTSW |
5 |
120,744,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGACGCATAAGCCCCTAG -3'
(R):5'- CAGGAGATCCCACCTATCTTGG -3'
Sequencing Primer
(F):5'- CTAGGGGAGGGGCACAACC -3'
(R):5'- ACCTATCTTGGGCTTTCGCAC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation