Incidental Mutation 'R4448:Iqcm'
ID |
328840 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Iqcm
|
Ensembl Gene |
ENSMUSG00000031620 |
Gene Name |
IQ motif containing M |
Synonyms |
1700007B14Rik |
MMRRC Submission |
041709-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R4448 (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: 95.4%
|
Validation Efficiency |
94% (49/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3930402G23Rik |
T |
A |
8: 10,976,129 (GRCm39) |
|
noncoding transcript |
Het |
A1cf |
A |
T |
19: 31,923,262 (GRCm39) |
T513S |
probably benign |
Het |
Acaca |
A |
T |
11: 84,153,318 (GRCm39) |
I909F |
probably damaging |
Het |
Adgb |
T |
C |
10: 10,266,569 (GRCm39) |
I980V |
probably benign |
Het |
Akap13 |
T |
A |
7: 75,392,508 (GRCm39) |
F2450L |
probably damaging |
Het |
Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
Asb8 |
A |
G |
15: 98,039,211 (GRCm39) |
V63A |
possibly damaging |
Het |
Atp6v1b2 |
T |
A |
8: 69,554,674 (GRCm39) |
D126E |
probably benign |
Het |
BC048562 |
T |
A |
9: 108,315,723 (GRCm39) |
L43Q |
probably damaging |
Het |
Ctcf |
A |
T |
8: 106,406,925 (GRCm39) |
|
probably benign |
Het |
Efs |
A |
G |
14: 55,157,649 (GRCm39) |
S128P |
probably damaging |
Het |
Epg5 |
T |
A |
18: 78,005,676 (GRCm39) |
M722K |
probably damaging |
Het |
Ezr |
T |
C |
17: 7,020,473 (GRCm39) |
I203V |
probably benign |
Het |
F5 |
A |
T |
1: 164,026,468 (GRCm39) |
N1680I |
possibly damaging |
Het |
Fcna |
A |
G |
2: 25,515,488 (GRCm39) |
F194L |
probably damaging |
Het |
Fut7 |
A |
G |
2: 25,314,951 (GRCm39) |
T70A |
probably benign |
Het |
Galnt2 |
A |
G |
8: 125,022,116 (GRCm39) |
D14G |
probably benign |
Het |
Gpr4 |
G |
A |
7: 18,956,926 (GRCm39) |
A283T |
probably damaging |
Het |
Herc2 |
T |
C |
7: 55,877,640 (GRCm39) |
L4569P |
probably damaging |
Het |
Hhip |
C |
T |
8: 80,770,574 (GRCm39) |
|
probably null |
Het |
Hoxc12 |
A |
G |
15: 102,846,911 (GRCm39) |
K268E |
probably damaging |
Het |
Kansl1l |
A |
G |
1: 66,777,318 (GRCm39) |
S605P |
probably damaging |
Het |
Kcnh4 |
A |
G |
11: 100,646,733 (GRCm39) |
F198L |
probably benign |
Het |
Kmt2e |
T |
C |
5: 23,669,788 (GRCm39) |
F92L |
possibly damaging |
Het |
Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
Mycbp2 |
T |
C |
14: 103,425,938 (GRCm39) |
I2396V |
possibly damaging |
Het |
Nckap5 |
G |
A |
1: 125,953,463 (GRCm39) |
Q1030* |
probably null |
Het |
Pag1 |
T |
C |
3: 9,764,526 (GRCm39) |
E209G |
probably benign |
Het |
Pramel30 |
A |
C |
4: 144,059,255 (GRCm39) |
H322P |
probably damaging |
Het |
Pttg1 |
A |
T |
11: 43,315,517 (GRCm39) |
|
probably benign |
Het |
Rab38 |
T |
G |
7: 88,139,833 (GRCm39) |
D167E |
probably benign |
Het |
Rbm26 |
A |
T |
14: 105,388,986 (GRCm39) |
F302I |
probably damaging |
Het |
Rpap2 |
G |
A |
5: 107,749,661 (GRCm39) |
V62I |
possibly damaging |
Het |
Sec23b |
A |
G |
2: 144,401,171 (GRCm39) |
N11D |
probably benign |
Het |
Sipa1l1 |
G |
A |
12: 82,388,524 (GRCm39) |
G250D |
probably benign |
Het |
Sipa1l2 |
A |
T |
8: 126,219,094 (GRCm39) |
V81D |
probably damaging |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Sqstm1 |
A |
G |
11: 50,093,866 (GRCm39) |
|
probably benign |
Het |
Taf4 |
A |
G |
2: 179,577,764 (GRCm39) |
L519P |
possibly damaging |
Het |
Tdrd6 |
C |
T |
17: 43,940,626 (GRCm39) |
G141S |
probably benign |
Het |
Urb1 |
C |
T |
16: 90,566,282 (GRCm39) |
V1502I |
possibly damaging |
Het |
Vmn1r222 |
A |
C |
13: 23,416,463 (GRCm39) |
V250G |
probably benign |
Het |
Vmn1r222 |
G |
A |
13: 23,416,830 (GRCm39) |
L128F |
probably damaging |
Het |
Wwc2 |
A |
G |
8: 48,321,702 (GRCm39) |
Y471H |
unknown |
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 |
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'- AGATATTCCTGCTGTTTACCCACAC -3'
(R):5'- CTTACTAGTCGTCCCCGAAATC -3'
Sequencing Primer
(F):5'- TGAGGATGCCACAGCTCTAGTTC -3'
(R):5'- GAAATCTCTTTTCTCTTTTGACACAG -3'
|
Posted On |
2015-07-21 |