Incidental Mutation 'R3897:Iqcm'
ID |
309013 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Iqcm
|
Ensembl Gene |
ENSMUSG00000031620 |
Gene Name |
IQ motif containing M |
Synonyms |
1700007B14Rik |
MMRRC Submission |
040808-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R3897 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
76175322-76711131 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 76480028 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 329
(R329C)
|
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: R329C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034033 Gene: ENSMUSG00000031620 AA Change: R329C
Domain | Start | End | E-Value | Type |
IQ
|
281 |
303 |
2.54e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000121983
AA Change: R329C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112901 Gene: ENSMUSG00000031620 AA Change: R329C
Domain | Start | End | E-Value | Type |
IQ
|
281 |
303 |
2.54e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212704
AA Change: R329C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.0934 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
97% (35/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam15 |
T |
C |
3: 89,254,245 (GRCm39) |
H184R |
probably benign |
Het |
Ap1g1 |
A |
G |
8: 110,581,631 (GRCm39) |
D633G |
probably damaging |
Het |
Arhgef28 |
C |
T |
13: 98,093,084 (GRCm39) |
R999H |
probably damaging |
Het |
Armc3 |
T |
C |
2: 19,273,988 (GRCm39) |
S341P |
probably damaging |
Het |
Cmya5 |
T |
C |
13: 93,233,189 (GRCm39) |
E633G |
possibly damaging |
Het |
Colgalt1 |
G |
A |
8: 72,072,306 (GRCm39) |
M275I |
probably damaging |
Het |
Commd7 |
T |
C |
2: 153,464,710 (GRCm39) |
T23A |
probably benign |
Het |
Cts3 |
A |
G |
13: 61,712,800 (GRCm39) |
Y307H |
probably benign |
Het |
Dlgap4 |
C |
A |
2: 156,587,989 (GRCm39) |
P89Q |
probably damaging |
Het |
Ecm1 |
A |
G |
3: 95,643,298 (GRCm39) |
L334P |
probably damaging |
Het |
Fzd8 |
G |
A |
18: 9,214,939 (GRCm39) |
V674I |
possibly damaging |
Het |
Gosr2 |
A |
G |
11: 103,588,472 (GRCm39) |
Y5H |
possibly damaging |
Het |
Gria4 |
T |
A |
9: 4,513,260 (GRCm39) |
D283V |
probably damaging |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Kdm4b |
T |
C |
17: 56,703,955 (GRCm39) |
C233R |
probably damaging |
Het |
Ltbp1 |
T |
C |
17: 75,581,011 (GRCm39) |
C391R |
probably damaging |
Het |
Man2b1 |
G |
T |
8: 85,823,577 (GRCm39) |
|
probably benign |
Het |
Mgat4f |
A |
G |
1: 134,318,176 (GRCm39) |
D316G |
possibly damaging |
Het |
Nisch |
A |
G |
14: 30,912,957 (GRCm39) |
|
probably benign |
Het |
Nrxn2 |
T |
G |
19: 6,569,287 (GRCm39) |
D1394E |
probably damaging |
Het |
Or4c12 |
T |
C |
2: 89,774,153 (GRCm39) |
E102G |
probably benign |
Het |
Or4k77 |
T |
C |
2: 111,199,106 (GRCm39) |
L43P |
possibly damaging |
Het |
Pabpc6 |
T |
C |
17: 9,888,056 (GRCm39) |
D165G |
probably benign |
Het |
Psat1 |
A |
G |
19: 15,896,817 (GRCm39) |
|
probably null |
Het |
Psd |
A |
C |
19: 46,313,024 (GRCm39) |
N115K |
possibly damaging |
Het |
Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
Rnf144a |
A |
G |
12: 26,360,712 (GRCm39) |
V275A |
probably damaging |
Het |
Slc35b3 |
A |
G |
13: 39,118,739 (GRCm39) |
F356L |
probably benign |
Het |
Tmc4 |
A |
G |
7: 3,674,087 (GRCm39) |
V364A |
probably benign |
Het |
Tmem203 |
T |
C |
2: 25,145,935 (GRCm39) |
F85S |
probably benign |
Het |
Tra2a |
T |
C |
6: 49,222,476 (GRCm39) |
|
probably benign |
Het |
Ttc21b |
C |
T |
2: 66,065,413 (GRCm39) |
E454K |
probably benign |
Het |
|
Other mutations in Iqcm |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01895:Iqcm
|
APN |
8 |
76,615,188 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATGGGAATGGCTGTCAGTGC -3'
(R):5'- AAAACAGTCTCCCTTCCATTGC -3'
Sequencing Primer
(F):5'- AATGGCTGTCAGTGCTCAGAG -3'
(R):5'- AGTCTCCCTTCCATTGCTAGGAATAG -3'
|
Posted On |
2015-04-17 |