Incidental Mutation 'IGL01895:Iqcm'
ID |
179376 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Iqcm
|
Ensembl Gene |
ENSMUSG00000031620 |
Gene Name |
IQ motif containing M |
Synonyms |
1700007B14Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
IGL01895
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
76175322-76711131 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 76615188 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 423
(L423R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148495
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034033]
[ENSMUST00000121983]
[ENSMUST00000212704]
|
AlphaFold |
Q149I8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034033
AA Change: L423R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000034033 Gene: ENSMUSG00000031620 AA Change: L423R
Domain | Start | End | E-Value | Type |
IQ
|
281 |
303 |
2.54e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000121983
AA Change: L423R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000112901 Gene: ENSMUSG00000031620 AA Change: L423R
Domain | Start | End | E-Value | Type |
IQ
|
281 |
303 |
2.54e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212704
AA Change: L423R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
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 |
Abcc6 |
A |
T |
7: 45,678,482 (GRCm39) |
I56N |
possibly damaging |
Het |
Akr1c13 |
A |
T |
13: 4,255,372 (GRCm39) |
E321V |
possibly damaging |
Het |
Atp8b3 |
A |
T |
10: 80,357,662 (GRCm39) |
V1119D |
possibly damaging |
Het |
Cacna1e |
G |
T |
1: 154,319,646 (GRCm39) |
F1351L |
probably damaging |
Het |
Cadps2 |
A |
G |
6: 23,427,274 (GRCm39) |
W585R |
probably damaging |
Het |
Ccdc113 |
C |
T |
8: 96,263,086 (GRCm39) |
|
probably benign |
Het |
Ccer1 |
A |
T |
10: 97,529,912 (GRCm39) |
I192F |
unknown |
Het |
Chd8 |
T |
C |
14: 52,436,551 (GRCm39) |
N90S |
probably benign |
Het |
Clca3a1 |
A |
T |
3: 144,453,333 (GRCm39) |
C463* |
probably null |
Het |
Cplane1 |
T |
A |
15: 8,258,591 (GRCm39) |
V2279E |
possibly damaging |
Het |
Cyp2c65 |
T |
A |
19: 39,060,676 (GRCm39) |
C179S |
possibly damaging |
Het |
Dennd4b |
A |
G |
3: 90,182,874 (GRCm39) |
Q35R |
probably benign |
Het |
Enpep |
T |
C |
3: 129,063,983 (GRCm39) |
E928G |
possibly damaging |
Het |
Fem1c |
T |
C |
18: 46,638,629 (GRCm39) |
T458A |
probably benign |
Het |
Fezf2 |
A |
T |
14: 12,342,498 (GRCm38) |
*456R |
probably null |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Kcnc4 |
C |
A |
3: 107,355,534 (GRCm39) |
V305L |
probably benign |
Het |
Kif1a |
G |
A |
1: 92,953,455 (GRCm39) |
T1337I |
possibly damaging |
Het |
Lpxn |
A |
G |
19: 12,810,450 (GRCm39) |
D298G |
probably damaging |
Het |
Lypd8 |
A |
G |
11: 58,281,046 (GRCm39) |
T203A |
possibly damaging |
Het |
Mrps28 |
C |
T |
3: 8,965,119 (GRCm39) |
V107M |
probably damaging |
Het |
Myo15b |
A |
G |
11: 115,774,324 (GRCm39) |
E586G |
possibly damaging |
Het |
Pdzk1 |
C |
T |
3: 96,776,417 (GRCm39) |
A459V |
possibly damaging |
Het |
Rbpj |
A |
G |
5: 53,808,728 (GRCm39) |
D285G |
probably damaging |
Het |
Rimbp3 |
T |
C |
16: 17,029,300 (GRCm39) |
L908P |
probably damaging |
Het |
Samd4b |
T |
C |
7: 28,101,334 (GRCm39) |
|
probably null |
Het |
Slc28a2b |
A |
C |
2: 122,355,572 (GRCm39) |
Y588S |
possibly damaging |
Het |
Stau2 |
C |
T |
1: 16,416,161 (GRCm39) |
G401S |
probably damaging |
Het |
Trpa1 |
A |
T |
1: 14,957,867 (GRCm39) |
I697K |
possibly damaging |
Het |
Ttc17 |
A |
C |
2: 94,205,491 (GRCm39) |
V285G |
possibly damaging |
Het |
Unc5b |
A |
G |
10: 60,602,864 (GRCm39) |
F845S |
probably damaging |
Het |
Vmn1r19 |
A |
T |
6: 57,382,245 (GRCm39) |
Q266L |
probably benign |
Het |
Vmn2r106 |
T |
C |
17: 20,499,227 (GRCm39) |
N228S |
probably benign |
Het |
Vps13d |
A |
G |
4: 144,882,836 (GRCm39) |
F919S |
possibly damaging |
Het |
Zbtb38 |
C |
T |
9: 96,570,461 (GRCm39) |
V208I |
probably benign |
Het |
Zfp990 |
A |
T |
4: 145,263,427 (GRCm39) |
T142S |
probably damaging |
Het |
Zfp990 |
C |
A |
4: 145,263,428 (GRCm39) |
T142N |
probably damaging |
Het |
|
Other mutations in Iqcm |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02835:Iqcm
|
APN |
8 |
76,281,511 (GRCm39) |
utr 5 prime |
probably benign |
|
R0056:Iqcm
|
UTSW |
8 |
76,480,014 (GRCm39) |
missense |
probably benign |
|
R2146:Iqcm
|
UTSW |
8 |
76,615,241 (GRCm39) |
missense |
probably damaging |
1.00 |
R2910:Iqcm
|
UTSW |
8 |
76,441,404 (GRCm39) |
missense |
probably benign |
|
R3801:Iqcm
|
UTSW |
8 |
76,396,021 (GRCm39) |
missense |
possibly damaging |
0.59 |
R3804:Iqcm
|
UTSW |
8 |
76,396,021 (GRCm39) |
missense |
possibly damaging |
0.59 |
R3834:Iqcm
|
UTSW |
8 |
76,304,380 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3897:Iqcm
|
UTSW |
8 |
76,480,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R4447:Iqcm
|
UTSW |
8 |
76,356,394 (GRCm39) |
missense |
probably damaging |
0.97 |
R4448:Iqcm
|
UTSW |
8 |
76,356,394 (GRCm39) |
missense |
probably damaging |
0.97 |
R4450:Iqcm
|
UTSW |
8 |
76,356,394 (GRCm39) |
missense |
probably damaging |
0.97 |
R4687:Iqcm
|
UTSW |
8 |
76,489,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R4810:Iqcm
|
UTSW |
8 |
76,615,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R4845:Iqcm
|
UTSW |
8 |
76,472,980 (GRCm39) |
missense |
probably damaging |
0.99 |
R4856:Iqcm
|
UTSW |
8 |
76,615,228 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4886:Iqcm
|
UTSW |
8 |
76,615,228 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5063:Iqcm
|
UTSW |
8 |
76,472,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R5460:Iqcm
|
UTSW |
8 |
76,441,417 (GRCm39) |
missense |
probably benign |
|
R6403:Iqcm
|
UTSW |
8 |
76,304,624 (GRCm39) |
critical splice donor site |
probably null |
|
R6667:Iqcm
|
UTSW |
8 |
76,479,980 (GRCm39) |
missense |
probably damaging |
1.00 |
R7187:Iqcm
|
UTSW |
8 |
76,480,044 (GRCm39) |
missense |
probably benign |
0.22 |
R7263:Iqcm
|
UTSW |
8 |
76,489,701 (GRCm39) |
missense |
probably benign |
|
R7701:Iqcm
|
UTSW |
8 |
76,281,539 (GRCm39) |
missense |
probably benign |
0.02 |
R7916:Iqcm
|
UTSW |
8 |
76,304,578 (GRCm39) |
missense |
probably benign |
|
R7938:Iqcm
|
UTSW |
8 |
76,304,596 (GRCm39) |
missense |
probably benign |
|
R7974:Iqcm
|
UTSW |
8 |
76,281,520 (GRCm39) |
start codon destroyed |
probably null |
0.66 |
R8039:Iqcm
|
UTSW |
8 |
76,489,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R8311:Iqcm
|
UTSW |
8 |
76,480,118 (GRCm39) |
splice site |
probably benign |
|
R8703:Iqcm
|
UTSW |
8 |
76,615,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R9175:Iqcm
|
UTSW |
8 |
76,710,867 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9475:Iqcm
|
UTSW |
8 |
76,480,083 (GRCm39) |
missense |
probably damaging |
1.00 |
RF002:Iqcm
|
UTSW |
8 |
76,304,527 (GRCm39) |
missense |
probably benign |
0.01 |
X0018:Iqcm
|
UTSW |
8 |
76,710,840 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2014-05-07 |