Incidental Mutation 'R4447:Iqcm'
| ID |
328802 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqcm
|
| Ensembl Gene |
ENSMUSG00000031620 |
| Gene Name |
IQ motif containing M |
| Synonyms |
1700007B14Rik |
| MMRRC Submission |
041708-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R4447 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
76175322-76711131 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76356394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 176
(S176P)
|
| 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: S176P
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000034033
Gene: ENSMUSG00000031620
AA Change: S176P
| Domain | Start | End | E-Value | Type |
|---|
|
IQ
|
281 |
303 |
2.54e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121983
AA Change: S176P
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000112901
Gene: ENSMUSG00000031620
AA Change: S176P
| Domain | Start | End | E-Value | Type |
|---|
|
IQ
|
281 |
303 |
2.54e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212704
AA Change: S176P
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.3094 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3930402G23Rik |
T |
A |
8: 10,976,129 (GRCm39) |
|
noncoding transcript |
Het |
| Acsf2 |
G |
T |
11: 94,460,185 (GRCm39) |
P389Q |
possibly damaging |
Het |
| Aldh6a1 |
A |
G |
12: 84,486,483 (GRCm39) |
V120A |
possibly damaging |
Het |
| Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Ankar |
A |
G |
1: 72,726,948 (GRCm39) |
S415P |
possibly damaging |
Het |
| Ano3 |
A |
T |
2: 110,591,923 (GRCm39) |
|
probably null |
Het |
| Asic4 |
A |
T |
1: 75,447,014 (GRCm39) |
|
probably benign |
Het |
| Atp1a4 |
A |
C |
1: 172,061,998 (GRCm39) |
I709S |
probably damaging |
Het |
| Cyp11b2 |
T |
C |
15: 74,727,412 (GRCm39) |
I90V |
probably benign |
Het |
| Galnt2 |
A |
G |
8: 125,022,116 (GRCm39) |
D14G |
probably benign |
Het |
| Irf5 |
T |
A |
6: 29,535,941 (GRCm39) |
D318E |
probably damaging |
Het |
| Map2k3 |
A |
T |
11: 60,837,997 (GRCm39) |
S253C |
probably damaging |
Het |
| Mgst1 |
G |
T |
6: 138,118,662 (GRCm39) |
|
probably benign |
Het |
| Mipol1 |
G |
T |
12: 57,399,534 (GRCm39) |
|
probably benign |
Het |
| Niban1 |
A |
T |
1: 151,512,153 (GRCm39) |
|
probably null |
Het |
| Or7c19 |
T |
A |
8: 85,957,995 (GRCm39) |
Y290* |
probably null |
Het |
| Pomgnt1 |
G |
T |
4: 116,010,120 (GRCm39) |
V161L |
possibly damaging |
Het |
| Rnpc3 |
T |
C |
3: 113,404,786 (GRCm39) |
|
probably benign |
Het |
| Rxfp1 |
C |
T |
3: 79,559,434 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,379,693 (GRCm39) |
D197G |
probably damaging |
Het |
| Spata31d1e |
T |
C |
13: 59,890,012 (GRCm39) |
T603A |
probably benign |
Het |
| Thsd7a |
G |
A |
6: 12,324,634 (GRCm39) |
T1479I |
probably damaging |
Het |
| Twsg1 |
C |
T |
17: 66,236,782 (GRCm39) |
D83N |
possibly damaging |
Het |
| Ubqln3 |
C |
T |
7: 103,792,021 (GRCm39) |
R23Q |
probably benign |
Het |
| Vmn1r228 |
T |
C |
17: 20,997,369 (GRCm39) |
I50V |
probably damaging |
Het |
| Wnk4 |
T |
A |
11: 101,159,277 (GRCm39) |
S565T |
possibly damaging |
Het |
| Wwc2 |
A |
G |
8: 48,321,702 (GRCm39) |
Y471H |
unknown |
Het |
| Zfp407 |
A |
T |
18: 84,580,819 (GRCm39) |
V98D |
possibly damaging |
Het |
| Zfp598 |
T |
A |
17: 24,895,529 (GRCm39) |
V73E |
probably damaging |
Het |
| Zscan29 |
T |
A |
2: 121,000,367 (GRCm39) |
|
probably null |
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 |
|
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'- GAGATATTCCTGCTGTTTACCCAC -3'
(R):5'- CTTACTAGTCGTCCCCGAAATC -3'
Sequencing Primer
(F):5'- TGAGGATGCCACAGCTCTAGTTC -3'
(R):5'- GAAATCTCTTTTCTCTTTTGACACAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation