Incidental Mutation 'R5460:Iqcm'
| ID |
432971 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqcm
|
| Ensembl Gene |
ENSMUSG00000031620 |
| Gene Name |
IQ motif containing M |
| Synonyms |
1700007B14Rik |
| MMRRC Submission |
042849-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R5460 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
76175322-76711131 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 76441417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 230
(D230V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148495
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034033]
[ENSMUST00000121983]
[ENSMUST00000212704]
|
| AlphaFold |
Q149I8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034033
AA Change: D230V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034033
Gene: ENSMUSG00000031620
AA Change: D230V
| Domain | Start | End | E-Value | Type |
|---|
|
IQ
|
281 |
303 |
2.54e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120430
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121983
AA Change: D230V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112901
Gene: ENSMUSG00000031620
AA Change: D230V
| Domain | Start | End | E-Value | Type |
|---|
|
IQ
|
281 |
303 |
2.54e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212704
AA Change: D230V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
T |
A |
13: 111,392,238 (GRCm39) |
M191K |
probably benign |
Het |
| Actn1 |
T |
C |
12: 80,230,342 (GRCm39) |
N304S |
probably benign |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adamtsl2 |
T |
A |
2: 26,985,410 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,572,377 (GRCm39) |
E4928G |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,673,713 (GRCm39) |
C3103S |
probably benign |
Het |
| Appl2 |
T |
A |
10: 83,438,696 (GRCm39) |
I578F |
probably benign |
Het |
| Atp10b |
T |
C |
11: 43,121,282 (GRCm39) |
S982P |
probably benign |
Het |
| Brd10 |
G |
T |
19: 29,732,250 (GRCm39) |
P254Q |
probably damaging |
Het |
| Capn7 |
T |
C |
14: 31,090,160 (GRCm39) |
|
probably null |
Het |
| Cd200r3 |
A |
G |
16: 44,778,093 (GRCm39) |
T166A |
possibly damaging |
Het |
| Dctn6 |
C |
T |
8: 34,572,135 (GRCm39) |
|
probably null |
Het |
| Duxf4 |
G |
A |
10: 58,071,717 (GRCm39) |
H166Y |
possibly damaging |
Het |
| Fam114a1 |
T |
A |
5: 65,185,776 (GRCm39) |
F366I |
probably damaging |
Het |
| Fam98b |
A |
T |
2: 117,089,737 (GRCm39) |
S85C |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,830,463 (GRCm39) |
N4344Y |
probably damaging |
Het |
| Fhl3 |
T |
G |
4: 124,599,796 (GRCm39) |
C92W |
probably damaging |
Het |
| Flrt1 |
T |
C |
19: 7,073,105 (GRCm39) |
T481A |
probably damaging |
Het |
| Gng2 |
G |
T |
14: 19,941,426 (GRCm39) |
N5K |
probably benign |
Het |
| Limk2 |
T |
C |
11: 3,302,332 (GRCm39) |
I176V |
probably benign |
Het |
| Lrrk2 |
T |
A |
15: 91,698,847 (GRCm39) |
|
probably null |
Het |
| Maml1 |
T |
C |
11: 50,157,180 (GRCm39) |
T332A |
probably benign |
Het |
| Matcap2 |
T |
C |
9: 22,351,216 (GRCm39) |
F453L |
probably benign |
Het |
| Mbd1 |
T |
C |
18: 74,402,581 (GRCm39) |
F28L |
probably benign |
Het |
| Morf4l1 |
G |
A |
9: 89,977,183 (GRCm39) |
T246I |
probably benign |
Het |
| Mtres1 |
T |
C |
10: 43,408,861 (GRCm39) |
K94R |
probably benign |
Het |
| Naa12 |
C |
T |
18: 80,255,138 (GRCm39) |
A144V |
probably damaging |
Het |
| Ndufaf1 |
T |
G |
2: 119,490,958 (GRCm39) |
D34A |
probably benign |
Het |
| Or4a77 |
T |
A |
2: 89,487,414 (GRCm39) |
I124F |
probably damaging |
Het |
| Or4c114 |
C |
T |
2: 88,905,208 (GRCm39) |
V76I |
probably benign |
Het |
| Patl1 |
C |
T |
19: 11,913,082 (GRCm39) |
R542C |
possibly damaging |
Het |
| Pcdha2 |
T |
C |
18: 37,072,474 (GRCm39) |
V35A |
probably damaging |
Het |
| Phf11b |
G |
A |
14: 59,568,713 (GRCm39) |
P67S |
probably benign |
Het |
| Plxnd1 |
T |
C |
6: 115,934,609 (GRCm39) |
I1775V |
probably damaging |
Het |
| Ryr1 |
T |
A |
7: 28,771,386 (GRCm39) |
T2552S |
probably damaging |
Het |
| Scai |
A |
T |
2: 38,973,585 (GRCm39) |
L52H |
probably damaging |
Het |
| Scai |
G |
C |
2: 38,973,586 (GRCm39) |
L52V |
probably damaging |
Het |
| Stag1 |
A |
T |
9: 100,838,506 (GRCm39) |
|
probably null |
Het |
| Tgs1 |
A |
G |
4: 3,586,170 (GRCm39) |
K349R |
probably benign |
Het |
| Tpbgl |
T |
C |
7: 99,274,961 (GRCm39) |
I299V |
probably benign |
Het |
| Ttc3 |
A |
G |
16: 94,258,241 (GRCm39) |
T1325A |
probably benign |
Het |
| Ubxn11 |
A |
T |
4: 133,852,396 (GRCm39) |
E210D |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,453,271 (GRCm39) |
I1840V |
probably benign |
Het |
| Zfp74 |
A |
T |
7: 29,635,316 (GRCm39) |
F131I |
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 |
|
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'- ACTAAGCGTTATATATCTGCATGC -3'
(R):5'- CAAATCCCTGGCATGCATG -3'
Sequencing Primer
(F):5'- CTGCATGCAAAAAATACTGAA -3'
(R):5'- AGCCTGTCAAGCTGAAGTTC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation