Incidental Mutation 'R5711:Iqcd'
ID |
452212 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Iqcd
|
Ensembl Gene |
ENSMUSG00000029601 |
Gene Name |
IQ motif containing D |
Synonyms |
4933433C09Rik |
MMRRC Submission |
043185-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R5711 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
120727081-120745183 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 120740571 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 301
(Q301*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091955
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069259]
[ENSMUST00000094391]
[ENSMUST00000111884]
[ENSMUST00000156356]
|
AlphaFold |
Q9D3V1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000069259
|
SMART Domains |
Protein: ENSMUSP00000069167 Gene: ENSMUSG00000029601
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 null
Transcript: ENSMUST00000094391
AA Change: Q301*
|
SMART Domains |
Protein: ENSMUSP00000091955 Gene: ENSMUSG00000029601 AA Change: Q301*
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: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ak6 |
A |
T |
13: 100,790,722 (GRCm39) |
T18S |
probably damaging |
Het |
Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
Arhgap19 |
A |
G |
19: 41,773,227 (GRCm39) |
V275A |
possibly damaging |
Het |
Cebpz |
T |
A |
17: 79,242,040 (GRCm39) |
Q538L |
probably damaging |
Het |
Chgb |
A |
T |
2: 132,634,618 (GRCm39) |
I187F |
probably benign |
Het |
Cldn1 |
C |
A |
16: 26,190,167 (GRCm39) |
L70F |
probably damaging |
Het |
Crybg2 |
A |
T |
4: 133,809,938 (GRCm39) |
D1230V |
probably damaging |
Het |
Csmd1 |
C |
T |
8: 16,003,703 (GRCm39) |
C2617Y |
probably damaging |
Het |
D7Ertd443e |
T |
A |
7: 133,951,110 (GRCm39) |
N188Y |
probably benign |
Het |
Ddx51 |
A |
G |
5: 110,802,790 (GRCm39) |
I214M |
probably benign |
Het |
Dlg5 |
A |
G |
14: 24,200,716 (GRCm39) |
V1328A |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,326,216 (GRCm39) |
C3639Y |
probably damaging |
Het |
Dync1i2 |
C |
T |
2: 71,081,326 (GRCm39) |
T511I |
probably benign |
Het |
Fam220a |
A |
T |
5: 143,549,212 (GRCm39) |
E208V |
probably damaging |
Het |
Gm4846 |
T |
C |
1: 166,311,594 (GRCm39) |
S422G |
probably benign |
Het |
Grin2c |
C |
T |
11: 115,141,115 (GRCm39) |
R1001Q |
probably benign |
Het |
H2-T3 |
T |
C |
17: 36,498,301 (GRCm39) |
E248G |
probably damaging |
Het |
Idi2 |
T |
C |
13: 9,008,518 (GRCm39) |
V92A |
probably benign |
Het |
Klhl26 |
T |
C |
8: 70,904,974 (GRCm39) |
D278G |
probably damaging |
Het |
Mok |
G |
T |
12: 110,774,503 (GRCm39) |
T228K |
probably damaging |
Het |
Or1e22 |
A |
G |
11: 73,377,008 (GRCm39) |
I214T |
probably damaging |
Het |
Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
Pabpc1 |
T |
C |
15: 36,606,074 (GRCm39) |
I101V |
probably benign |
Het |
Ppargc1a |
G |
T |
5: 51,631,562 (GRCm39) |
Q356K |
probably damaging |
Het |
Ptprt |
T |
A |
2: 161,652,524 (GRCm39) |
D608V |
probably damaging |
Het |
Rxfp1 |
C |
T |
3: 79,586,054 (GRCm39) |
C96Y |
probably damaging |
Het |
Scn11a |
A |
C |
9: 119,618,990 (GRCm39) |
V784G |
probably damaging |
Het |
Septin4 |
T |
C |
11: 87,458,723 (GRCm39) |
S366P |
probably benign |
Het |
Slc12a8 |
A |
G |
16: 33,410,679 (GRCm39) |
Y226C |
probably damaging |
Het |
Slc25a33 |
A |
G |
4: 149,846,914 (GRCm39) |
V49A |
possibly damaging |
Het |
Slc25a45 |
T |
C |
19: 5,934,451 (GRCm39) |
S140P |
probably benign |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Spty2d1 |
G |
T |
7: 46,647,845 (GRCm39) |
N361K |
possibly damaging |
Het |
Stk4 |
G |
A |
2: 163,941,674 (GRCm39) |
A297T |
probably benign |
Het |
Thsd7b |
T |
A |
1: 129,688,139 (GRCm39) |
N683K |
probably damaging |
Het |
Tln2 |
T |
C |
9: 67,299,829 (GRCm39) |
E141G |
probably benign |
Het |
Tmem125 |
A |
T |
4: 118,399,216 (GRCm39) |
C72S |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,572,437 (GRCm39) |
T26152K |
probably damaging |
Het |
Uhrf1 |
G |
A |
17: 56,627,259 (GRCm39) |
G643D |
possibly damaging |
Het |
Vmn2r50 |
C |
T |
7: 9,774,299 (GRCm39) |
M532I |
possibly 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 |
|
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'- ACTTTGTGATCCAGGAGCTG -3'
(R):5'- GGTCACTGAGCTTTAGTGCC -3'
Sequencing Primer
(F):5'- CTTTGTGATCCAGGAGCTGAAGAAC -3'
(R):5'- ATGGGGATTTGACCTCCTTGACC -3'
|
Posted On |
2017-01-03 |