Incidental Mutation 'IGL02420:Iqcc'
| ID |
292645 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Iqcc
|
| Ensembl Gene |
ENSMUSG00000040795 |
| Gene Name |
IQ motif containing C |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
IGL02420
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
129509410-129512969 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 129510748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 256
(T256A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040584
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030586]
[ENSMUST00000046675]
[ENSMUST00000106035]
[ENSMUST00000106037]
[ENSMUST00000121442]
[ENSMUST00000137090]
[ENSMUST00000174073]
[ENSMUST00000150357]
[ENSMUST00000179209]
[ENSMUST00000151838]
|
| AlphaFold |
A2ADZ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030586
|
| SMART Domains |
Protein: ENSMUSP00000030586
Gene: ENSMUSG00000028795
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
74 |
N/A |
INTRINSIC |
|
Pfam:DUF4061
|
85 |
185 |
4.3e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046675
AA Change: T256A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000040584
Gene: ENSMUSG00000040795
AA Change: T256A
| Domain | Start | End | E-Value | Type |
|---|
|
IQ
|
5 |
27 |
6.6e-2 |
SMART |
|
low complexity region
|
150 |
160 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106035
|
| SMART Domains |
Protein: ENSMUSP00000101652
Gene: ENSMUSG00000028795
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
74 |
N/A |
INTRINSIC |
|
Pfam:DUF4061
|
86 |
178 |
2.2e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106037
|
| SMART Domains |
Protein: ENSMUSP00000101653
Gene: ENSMUSG00000078552
| Domain | Start | End | E-Value | Type |
|---|
|
DCX
|
1 |
85 |
7.69e-26 |
SMART |
|
DCX
|
118 |
205 |
6.22e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121442
|
| SMART Domains |
Protein: ENSMUSP00000113036
Gene: ENSMUSG00000040795
| Domain | Start | End | E-Value | Type |
|---|
|
IQ
|
5 |
27 |
6.6e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123943
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124630
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127029
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131559
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126777
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146378
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141361
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137090
|
| SMART Domains |
Protein: ENSMUSP00000117568
Gene: ENSMUSG00000028797
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0546
|
11 |
62 |
1.1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174073
|
| SMART Domains |
Protein: ENSMUSP00000133325
Gene: ENSMUSG00000028797
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0546
|
11 |
62 |
1.1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150357
|
| SMART Domains |
Protein: ENSMUSP00000118241
Gene: ENSMUSG00000028795
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
74 |
N/A |
INTRINSIC |
|
Pfam:DUF4061
|
85 |
104 |
7e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179209
|
| SMART Domains |
Protein: ENSMUSP00000135913
Gene: ENSMUSG00000078552
| Domain | Start | End | E-Value | Type |
|---|
|
DCX
|
1 |
86 |
1.32e-24 |
SMART |
|
DCX
|
91 |
178 |
1.1e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151838
|
| SMART Domains |
Protein: ENSMUSP00000122229
Gene: ENSMUSG00000028795
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
74 |
N/A |
INTRINSIC |
|
Pfam:DUF4061
|
85 |
120 |
1.1e-13 |
PFAM |
|
low complexity region
|
132 |
147 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,187,494 (GRCm39) |
N136S |
probably damaging |
Het |
| Adcy8 |
A |
G |
15: 64,659,303 (GRCm39) |
S496P |
probably damaging |
Het |
| Agbl3 |
T |
A |
6: 34,762,242 (GRCm39) |
S81T |
possibly damaging |
Het |
| Apobec1 |
A |
T |
6: 122,558,531 (GRCm39) |
Y75N |
probably benign |
Het |
| Asic2 |
A |
G |
11: 80,772,479 (GRCm39) |
L517P |
probably benign |
Het |
| Atp8a1 |
A |
G |
5: 67,840,126 (GRCm39) |
S752P |
probably damaging |
Het |
| Blm |
T |
C |
7: 80,145,754 (GRCm39) |
Y775C |
probably damaging |
Het |
| C1qtnf5 |
T |
C |
9: 44,019,901 (GRCm39) |
I175T |
probably benign |
Het |
| Ccdc81 |
G |
A |
7: 89,524,946 (GRCm39) |
T545I |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,834,317 (GRCm39) |
E174G |
probably damaging |
Het |
| Chl1 |
G |
A |
6: 103,692,330 (GRCm39) |
V1066M |
probably damaging |
Het |
| Cntn6 |
T |
A |
6: 104,823,103 (GRCm39) |
|
probably null |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyren |
T |
C |
6: 34,851,404 (GRCm39) |
Y150C |
probably damaging |
Het |
| Cysrt1 |
T |
C |
2: 25,129,360 (GRCm39) |
I51V |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,725,702 (GRCm39) |
N69S |
probably benign |
Het |
| Fam83d |
T |
C |
2: 158,627,655 (GRCm39) |
L448P |
probably benign |
Het |
| Gm9631 |
G |
A |
11: 121,834,478 (GRCm39) |
|
|
Het |
| Hmcn1 |
T |
C |
1: 150,598,175 (GRCm39) |
Y1709C |
probably damaging |
Het |
| Inppl1 |
G |
A |
7: 101,481,526 (GRCm39) |
|
probably benign |
Het |
| Itprid2 |
T |
C |
2: 79,465,986 (GRCm39) |
S35P |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Lyz1 |
A |
T |
10: 117,124,535 (GRCm39) |
C134S |
probably damaging |
Het |
| Mpzl3 |
T |
C |
9: 44,977,815 (GRCm39) |
I141T |
possibly damaging |
Het |
| Mterf1a |
T |
C |
5: 3,941,047 (GRCm39) |
N274D |
probably damaging |
Het |
| Myo18a |
T |
A |
11: 77,709,519 (GRCm39) |
V543D |
possibly damaging |
Het |
| Myo18b |
A |
T |
5: 112,975,852 (GRCm39) |
D1332E |
possibly damaging |
Het |
| Or2r11 |
A |
G |
6: 42,437,110 (GRCm39) |
V281A |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,138,938 (GRCm39) |
D333V |
probably damaging |
Het |
| Plekha7 |
A |
G |
7: 115,757,469 (GRCm39) |
Y494H |
probably damaging |
Het |
| Plekhg1 |
A |
G |
10: 3,914,106 (GRCm39) |
N1276S |
probably damaging |
Het |
| Ppig |
T |
C |
2: 69,562,571 (GRCm39) |
V5A |
probably benign |
Het |
| Prag1 |
A |
T |
8: 36,614,580 (GRCm39) |
|
probably benign |
Het |
| Prom1 |
T |
C |
5: 44,220,496 (GRCm39) |
N84S |
probably benign |
Het |
| Ptprh |
T |
A |
7: 4,583,929 (GRCm39) |
Y221F |
probably damaging |
Het |
| Qsox2 |
A |
G |
2: 26,110,731 (GRCm39) |
Y162H |
probably benign |
Het |
| Rab2a |
C |
T |
4: 8,572,553 (GRCm39) |
T49M |
possibly damaging |
Het |
| Ring1 |
A |
G |
17: 34,242,122 (GRCm39) |
S96P |
possibly damaging |
Het |
| Ripk3 |
A |
G |
14: 56,022,691 (GRCm39) |
F411S |
probably benign |
Het |
| Rock1 |
T |
C |
18: 10,070,619 (GRCm39) |
|
probably null |
Het |
| Rtn4rl1 |
A |
G |
11: 75,156,645 (GRCm39) |
N359S |
probably damaging |
Het |
| Sufu |
A |
G |
19: 46,413,481 (GRCm39) |
T76A |
probably damaging |
Het |
| Sugct |
C |
A |
13: 17,627,053 (GRCm39) |
V267F |
probably damaging |
Het |
| Tcf4 |
A |
T |
18: 69,697,210 (GRCm39) |
R29W |
probably damaging |
Het |
| Tnfsf18 |
A |
T |
1: 161,331,158 (GRCm39) |
I103L |
probably benign |
Het |
| Vwf |
A |
G |
6: 125,654,879 (GRCm39) |
E2525G |
probably benign |
Het |
|
| Other mutations in Iqcc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01991:Iqcc
|
APN |
4 |
129,511,582 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02134:Iqcc
|
APN |
4 |
129,512,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4976:Iqcc
|
UTSW |
4 |
129,510,469 (GRCm39) |
unclassified |
probably benign |
|
|
R0131:Iqcc
|
UTSW |
4 |
129,510,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0131:Iqcc
|
UTSW |
4 |
129,510,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0132:Iqcc
|
UTSW |
4 |
129,510,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1520:Iqcc
|
UTSW |
4 |
129,510,762 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5043:Iqcc
|
UTSW |
4 |
129,512,070 (GRCm39) |
unclassified |
probably benign |
|
|
R5389:Iqcc
|
UTSW |
4 |
129,512,413 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5645:Iqcc
|
UTSW |
4 |
129,510,320 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6242:Iqcc
|
UTSW |
4 |
129,510,639 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7335:Iqcc
|
UTSW |
4 |
129,510,501 (GRCm39) |
missense |
not run |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation