Incidental Mutation 'R9175:Iqcm'
| ID |
696624 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqcm
|
| Ensembl Gene |
ENSMUSG00000031620 |
| Gene Name |
IQ motif containing M |
| Synonyms |
1700007B14Rik |
| MMRRC Submission |
068948-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R9175 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
76175322-76711131 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76710867 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 472
(K472E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034033
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034033]
[ENSMUST00000121983]
[ENSMUST00000212704]
|
| AlphaFold |
Q149I8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034033
AA Change: K472E
PolyPhen 2
Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000034033
Gene: ENSMUSG00000031620
AA Change: K472E
| Domain | Start | End | E-Value | Type |
|---|
|
IQ
|
281 |
303 |
2.54e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121983
AA Change: K472E
PolyPhen 2
Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112901
Gene: ENSMUSG00000031620
AA Change: K472E
| Domain | Start | End | E-Value | Type |
|---|
|
IQ
|
281 |
303 |
2.54e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212704
AA Change: K472E
PolyPhen 2
Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
G |
A |
7: 12,249,412 (GRCm39) |
D82N |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,531,593 (GRCm39) |
K4607E |
probably damaging |
Het |
| Agpat4 |
G |
C |
17: 12,417,669 (GRCm39) |
G70A |
probably damaging |
Het |
| Ank2 |
G |
A |
3: 126,722,402 (GRCm39) |
T1017I |
possibly damaging |
Het |
| C2cd2 |
T |
C |
16: 97,678,421 (GRCm39) |
I339V |
probably benign |
Het |
| Cacna1a |
A |
T |
8: 85,296,644 (GRCm39) |
N1221Y |
probably damaging |
Het |
| Cacna1e |
A |
G |
1: 154,274,314 (GRCm39) |
V2197A |
probably damaging |
Het |
| Ccdc74a |
T |
C |
16: 17,468,042 (GRCm39) |
S101P |
probably benign |
Het |
| Cdh13 |
A |
T |
8: 119,968,968 (GRCm39) |
I442F |
probably damaging |
Het |
| Cnot2 |
A |
T |
10: 116,334,051 (GRCm39) |
M373K |
possibly damaging |
Het |
| Coch |
C |
A |
12: 51,645,060 (GRCm39) |
H205N |
possibly damaging |
Het |
| Col6a4 |
A |
G |
9: 105,957,560 (GRCm39) |
V88A |
probably benign |
Het |
| Erich3 |
A |
G |
3: 154,419,601 (GRCm39) |
T35A |
probably benign |
Het |
| Gm28360 |
A |
T |
1: 117,781,328 (GRCm39) |
K106N |
possibly damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Hspg2 |
T |
C |
4: 137,256,657 (GRCm39) |
F1467L |
probably damaging |
Het |
| Ighg2c |
T |
C |
12: 113,252,499 (GRCm39) |
T18A |
|
Het |
| Kcnk5 |
A |
T |
14: 20,192,117 (GRCm39) |
V348D |
probably benign |
Het |
| Kcns3 |
C |
T |
12: 11,169,801 (GRCm39) |
|
probably benign |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Muc5ac |
A |
G |
7: 141,366,093 (GRCm39) |
D2787G |
possibly damaging |
Het |
| Nasp |
A |
G |
4: 116,471,576 (GRCm39) |
C84R |
probably damaging |
Het |
| Nfia |
G |
A |
4: 97,671,362 (GRCm39) |
R24H |
probably damaging |
Het |
| Opa3 |
C |
T |
7: 18,989,466 (GRCm39) |
R110C |
probably damaging |
Het |
| Or2t48 |
T |
C |
11: 58,420,590 (GRCm39) |
D74G |
probably damaging |
Het |
| Or8k25 |
A |
G |
2: 86,244,099 (GRCm39) |
I99T |
probably benign |
Het |
| Pdia4 |
A |
C |
6: 47,775,417 (GRCm39) |
S464R |
possibly damaging |
Het |
| Rab3gap2 |
A |
G |
1: 185,009,360 (GRCm39) |
D1092G |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,730,764 (GRCm39) |
K2763E |
possibly damaging |
Het |
| Sanbr |
A |
T |
11: 23,534,518 (GRCm39) |
|
probably null |
Het |
| Sorbs1 |
A |
T |
19: 40,315,018 (GRCm39) |
L598Q |
probably damaging |
Het |
| Sppl2b |
A |
T |
10: 80,698,807 (GRCm39) |
M154L |
probably benign |
Het |
| Stk33 |
A |
G |
7: 108,920,724 (GRCm39) |
I331T |
probably damaging |
Het |
| Strip2 |
A |
G |
6: 29,933,035 (GRCm39) |
E494G |
probably benign |
Het |
| Supt6 |
C |
T |
11: 78,112,052 (GRCm39) |
R1010Q |
possibly damaging |
Het |
| Tada1 |
G |
A |
1: 166,210,005 (GRCm39) |
R69H |
probably damaging |
Het |
| Tent4a |
A |
G |
13: 69,663,915 (GRCm39) |
L268P |
probably damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tomm34 |
A |
G |
2: 163,912,385 (GRCm39) |
|
probably null |
Het |
| Tpi1 |
T |
C |
6: 124,788,871 (GRCm39) |
T223A |
probably damaging |
Het |
| Trpc3 |
T |
A |
3: 36,709,279 (GRCm39) |
N399I |
probably benign |
Het |
| Vgll2 |
A |
G |
10: 51,903,635 (GRCm39) |
H166R |
probably damaging |
Het |
| Vmn2r107 |
A |
T |
17: 20,577,051 (GRCm39) |
I350F |
possibly damaging |
Het |
| Vmn2r114 |
T |
A |
17: 23,527,212 (GRCm39) |
K440M |
probably damaging |
Het |
| Vmn2r55 |
T |
C |
7: 12,385,793 (GRCm39) |
Y729C |
possibly damaging |
Het |
| Zfp106 |
G |
T |
2: 120,353,197 (GRCm39) |
A1554E |
probably damaging |
Het |
| Zfyve27 |
A |
G |
19: 42,169,997 (GRCm39) |
Y176C |
probably damaging |
Het |
| Zswim5 |
T |
A |
4: 116,822,941 (GRCm39) |
N470K |
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 |
|
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 |
|
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'- GTCCAACAATGACTTTGGAGTGTC -3'
(R):5'- CTTGTCAACATCCAAAGATTTCACC -3'
Sequencing Primer
(F):5'- CAATGACTTTGGAGTGTCAATTGAC -3'
(R):5'- ACCCTTTATCCTGTCAATAGCAAATC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation