Incidental Mutation 'R6387:Iqcd'
ID |
514651 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Iqcd
|
Ensembl Gene |
ENSMUSG00000029601 |
Gene Name |
IQ motif containing D |
Synonyms |
4933433C09Rik |
MMRRC Submission |
044536-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R6387 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
120727081-120745183 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 120744920 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 416
(I416T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091955
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031599]
[ENSMUST00000069259]
[ENSMUST00000094391]
[ENSMUST00000111884]
[ENSMUST00000140554]
[ENSMUST00000177800]
[ENSMUST00000156356]
|
AlphaFold |
Q9D3V1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031599
|
SMART Domains |
Protein: ENSMUSP00000031599 Gene: ENSMUSG00000029600
Domain | Start | End | E-Value | Type |
low complexity region
|
235 |
251 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000069259
AA Change: I383T
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000069167 Gene: ENSMUSG00000029601 AA Change: I383T
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 benign
Transcript: ENSMUST00000094391
AA Change: I416T
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000091955 Gene: ENSMUSG00000029601 AA Change: I416T
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 |
probably benign
Transcript: ENSMUST00000140554
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147596
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177800
|
SMART Domains |
Protein: ENSMUSP00000136946 Gene: ENSMUSG00000029600
Domain | Start | End | E-Value | Type |
Pfam:RITA
|
1 |
253 |
2.5e-105 |
PFAM |
|
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
98% (42/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
T |
C |
5: 109,884,881 (GRCm39) |
K326E |
possibly damaging |
Het |
Acot1 |
A |
G |
12: 84,056,627 (GRCm39) |
D115G |
probably benign |
Het |
Adm |
T |
C |
7: 110,227,502 (GRCm39) |
I6T |
possibly damaging |
Het |
Ahi1 |
A |
G |
10: 20,844,942 (GRCm39) |
Y349C |
probably damaging |
Het |
Aldh1a1 |
A |
G |
19: 20,595,323 (GRCm39) |
E84G |
probably damaging |
Het |
Ankrd31 |
A |
G |
13: 96,967,081 (GRCm39) |
D520G |
probably damaging |
Het |
Ano4 |
A |
T |
10: 88,807,267 (GRCm39) |
Y736* |
probably null |
Het |
Atp6v1a |
A |
G |
16: 43,907,806 (GRCm39) |
F612S |
possibly damaging |
Het |
Bltp3b |
C |
T |
10: 89,638,919 (GRCm39) |
Q442* |
probably null |
Het |
Calcb |
G |
A |
7: 114,319,025 (GRCm39) |
V17I |
possibly damaging |
Het |
Cfap70 |
C |
T |
14: 20,498,643 (GRCm39) |
V15M |
probably damaging |
Het |
Chad |
C |
T |
11: 94,458,663 (GRCm39) |
H271Y |
possibly damaging |
Het |
Csgalnact1 |
C |
T |
8: 68,811,365 (GRCm39) |
G435D |
probably damaging |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Eprs1 |
T |
A |
1: 185,119,281 (GRCm39) |
M487K |
possibly damaging |
Het |
Fat4 |
A |
G |
3: 39,037,934 (GRCm39) |
E3862G |
probably damaging |
Het |
Gdf10 |
T |
A |
14: 33,645,961 (GRCm39) |
S37T |
probably benign |
Het |
Hhatl |
T |
A |
9: 121,619,467 (GRCm39) |
H39L |
probably benign |
Het |
Icam4 |
A |
C |
9: 20,941,505 (GRCm39) |
S215R |
possibly damaging |
Het |
Ighv1-18 |
T |
C |
12: 114,646,280 (GRCm39) |
E108G |
probably damaging |
Het |
Marf1 |
T |
A |
16: 13,959,504 (GRCm39) |
*577L |
probably null |
Het |
Mark2 |
A |
G |
19: 7,263,267 (GRCm39) |
F167L |
probably damaging |
Het |
Mpdz |
T |
C |
4: 81,299,946 (GRCm39) |
T351A |
possibly damaging |
Het |
Mrps27 |
A |
G |
13: 99,536,825 (GRCm39) |
I113V |
possibly damaging |
Het |
Numbl |
C |
T |
7: 26,976,115 (GRCm39) |
T265I |
probably damaging |
Het |
Obsl1 |
C |
T |
1: 75,468,006 (GRCm39) |
A1296T |
probably benign |
Het |
Or10g9 |
A |
G |
9: 39,912,148 (GRCm39) |
I125T |
probably damaging |
Het |
Pcdhb21 |
A |
G |
18: 37,648,385 (GRCm39) |
I505V |
probably benign |
Het |
Pfas |
A |
G |
11: 68,891,291 (GRCm39) |
F269L |
probably damaging |
Het |
Prkdc |
G |
A |
16: 15,516,679 (GRCm39) |
V1018I |
probably benign |
Het |
Prl4a1 |
T |
A |
13: 28,202,482 (GRCm39) |
V19E |
possibly damaging |
Het |
Ptpn22 |
A |
G |
3: 103,792,702 (GRCm39) |
D327G |
probably benign |
Het |
Smad3 |
G |
T |
9: 63,562,047 (GRCm39) |
D310E |
probably benign |
Het |
Sparcl1 |
T |
A |
5: 104,232,926 (GRCm39) |
D625V |
probably damaging |
Het |
Spta1 |
G |
A |
1: 174,058,899 (GRCm39) |
A1945T |
probably benign |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Sympk |
T |
C |
7: 18,786,423 (GRCm39) |
Y1009H |
possibly damaging |
Het |
Trio |
A |
G |
15: 27,752,825 (GRCm39) |
F1026L |
probably damaging |
Het |
Unc5d |
T |
A |
8: 29,365,554 (GRCm39) |
K144* |
probably null |
Het |
Unk |
A |
G |
11: 115,945,766 (GRCm39) |
N479S |
possibly damaging |
Het |
Zfp710 |
T |
C |
7: 79,735,775 (GRCm39) |
I514T |
probably damaging |
Het |
Zfp993 |
A |
G |
4: 146,741,975 (GRCm39) |
T100A |
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 |
R4178:Iqcd
|
UTSW |
5 |
120,740,476 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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'- CTCGCATAGGACGAATACGAG -3'
(R):5'- ACAGAACAGGGGCTTGGTTG -3'
Sequencing Primer
(F):5'- TACGAGGACCTGGAGAGCATC -3'
(R):5'- CTTGGTTGGGACCCGGTAG -3'
|
Posted On |
2018-05-04 |