Incidental Mutation 'IGL03060:Iqch'
| ID |
409405 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Iqch
|
| Ensembl Gene |
ENSMUSG00000037801 |
| Gene Name |
IQ motif containing H |
| Synonyms |
4921504K03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
IGL03060
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
63328737-63509775 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63432196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 361
(Y361H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042322]
[ENSMUST00000080527]
[ENSMUST00000163624]
[ENSMUST00000163982]
[ENSMUST00000171243]
|
| AlphaFold |
Q9D2K4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042322
AA Change: Y400H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000047953
Gene: ENSMUSG00000037801
AA Change: Y400H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
257 |
267 |
N/A |
INTRINSIC |
|
IQ
|
405 |
427 |
2.79e0 |
SMART |
|
low complexity region
|
479 |
491 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080527
AA Change: Y400H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000079370
Gene: ENSMUSG00000037801
AA Change: Y400H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
257 |
267 |
N/A |
INTRINSIC |
|
IQ
|
405 |
427 |
2.79e0 |
SMART |
|
low complexity region
|
479 |
491 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126238
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163624
AA Change: Y400H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000128482
Gene: ENSMUSG00000037801
AA Change: Y400H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
257 |
267 |
N/A |
INTRINSIC |
|
IQ
|
405 |
427 |
2.79e0 |
SMART |
|
low complexity region
|
479 |
491 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163982
AA Change: Y400H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126546
Gene: ENSMUSG00000037801
AA Change: Y400H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
257 |
267 |
N/A |
INTRINSIC |
|
IQ
|
405 |
427 |
2.79e0 |
SMART |
|
low complexity region
|
479 |
491 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171243
AA Change: Y361H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131828
Gene: ENSMUSG00000037801
AA Change: Y361H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
218 |
228 |
N/A |
INTRINSIC |
|
IQ
|
366 |
388 |
2.79e0 |
SMART |
|
low complexity region
|
440 |
452 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1l2 |
G |
A |
19: 56,902,682 (GRCm39) |
Q720* |
probably null |
Het |
| Amph |
A |
G |
13: 19,278,984 (GRCm39) |
E153G |
probably damaging |
Het |
| Atad2 |
T |
C |
15: 57,985,842 (GRCm39) |
|
probably benign |
Het |
| Atosa |
A |
G |
9: 74,917,450 (GRCm39) |
D683G |
probably damaging |
Het |
| Cep152 |
C |
T |
2: 125,461,907 (GRCm39) |
|
probably benign |
Het |
| Cntn2 |
C |
T |
1: 132,456,678 (GRCm39) |
V123I |
probably benign |
Het |
| Dhrs2 |
C |
A |
14: 55,474,775 (GRCm39) |
Q137K |
probably benign |
Het |
| Fam124a |
A |
G |
14: 62,843,353 (GRCm39) |
Y287C |
probably benign |
Het |
| Flg2 |
C |
T |
3: 93,110,920 (GRCm39) |
R983W |
unknown |
Het |
| Gm9637 |
G |
A |
14: 19,402,173 (GRCm38) |
|
noncoding transcript |
Het |
| Helz2 |
A |
G |
2: 180,871,015 (GRCm39) |
|
probably null |
Het |
| Iars1 |
G |
A |
13: 49,843,923 (GRCm39) |
|
probably null |
Het |
| Igll1 |
A |
T |
16: 16,680,291 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
A |
T |
2: 40,527,765 (GRCm39) |
H105Q |
probably benign |
Het |
| Mapk6 |
A |
G |
9: 75,305,084 (GRCm39) |
M111T |
probably damaging |
Het |
| Mrtfa |
G |
A |
15: 80,929,523 (GRCm39) |
R27W |
probably damaging |
Het |
| Mt1 |
T |
A |
8: 94,906,522 (GRCm39) |
|
probably benign |
Het |
| Myh7b |
A |
T |
2: 155,474,671 (GRCm39) |
D1768V |
probably damaging |
Het |
| Myo6 |
A |
T |
9: 80,168,159 (GRCm39) |
Q441L |
probably benign |
Het |
| Nt5c3b |
A |
T |
11: 100,327,045 (GRCm39) |
Y84N |
probably damaging |
Het |
| Ntmt2 |
T |
C |
1: 163,544,692 (GRCm39) |
D97G |
probably damaging |
Het |
| Or1e29 |
A |
G |
11: 73,667,289 (GRCm39) |
F288S |
probably damaging |
Het |
| Paxx |
A |
G |
2: 25,350,196 (GRCm39) |
L137P |
probably damaging |
Het |
| Ptprz1 |
T |
C |
6: 22,972,834 (GRCm39) |
V248A |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 52,002,149 (GRCm39) |
C1868S |
probably damaging |
Het |
| Sec23a |
A |
T |
12: 59,032,891 (GRCm39) |
C403S |
probably benign |
Het |
| Skint4 |
G |
A |
4: 111,975,432 (GRCm39) |
V131I |
probably benign |
Het |
| Sugp2 |
T |
C |
8: 70,695,837 (GRCm39) |
V270A |
possibly damaging |
Het |
| Tmed9 |
A |
G |
13: 55,743,321 (GRCm39) |
D151G |
possibly damaging |
Het |
| Tubgcp4 |
A |
G |
2: 121,007,071 (GRCm39) |
|
probably benign |
Het |
| Uaca |
A |
G |
9: 60,777,148 (GRCm39) |
R512G |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,676,169 (GRCm39) |
Y1999C |
possibly damaging |
Het |
| Vwf |
T |
A |
6: 125,640,523 (GRCm39) |
C2320S |
probably damaging |
Het |
|
| Other mutations in Iqch |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00326:Iqch
|
APN |
9 |
63,387,936 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01472:Iqch
|
APN |
9 |
63,455,216 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01553:Iqch
|
APN |
9 |
63,408,199 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01611:Iqch
|
APN |
9 |
63,403,519 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02608:Iqch
|
APN |
9 |
63,329,110 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03154:Iqch
|
APN |
9 |
63,361,964 (GRCm39) |
missense |
probably damaging |
0.97 |
|
museum
|
UTSW |
9 |
63,432,421 (GRCm39) |
nonsense |
probably null |
|
|
I2288:Iqch
|
UTSW |
9 |
63,408,172 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0002:Iqch
|
UTSW |
9 |
63,502,025 (GRCm39) |
splice site |
probably benign |
|
|
R0350:Iqch
|
UTSW |
9 |
63,408,158 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0532:Iqch
|
UTSW |
9 |
63,415,514 (GRCm39) |
splice site |
probably benign |
|
|
R0629:Iqch
|
UTSW |
9 |
63,332,664 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0710:Iqch
|
UTSW |
9 |
63,432,418 (GRCm39) |
missense |
probably benign |
|
|
R0766:Iqch
|
UTSW |
9 |
63,389,965 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1797:Iqch
|
UTSW |
9 |
63,495,659 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1856:Iqch
|
UTSW |
9 |
63,441,619 (GRCm39) |
splice site |
probably null |
|
|
R1954:Iqch
|
UTSW |
9 |
63,455,298 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1955:Iqch
|
UTSW |
9 |
63,455,298 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2184:Iqch
|
UTSW |
9 |
63,432,351 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2264:Iqch
|
UTSW |
9 |
63,419,581 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4614:Iqch
|
UTSW |
9 |
63,389,863 (GRCm39) |
missense |
probably benign |
|
|
R4643:Iqch
|
UTSW |
9 |
63,502,084 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4654:Iqch
|
UTSW |
9 |
63,432,195 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4665:Iqch
|
UTSW |
9 |
63,352,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5027:Iqch
|
UTSW |
9 |
63,432,294 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5042:Iqch
|
UTSW |
9 |
63,403,516 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5551:Iqch
|
UTSW |
9 |
63,403,535 (GRCm39) |
splice site |
probably null |
|
|
R5829:Iqch
|
UTSW |
9 |
63,332,639 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5878:Iqch
|
UTSW |
9 |
63,455,272 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6816:Iqch
|
UTSW |
9 |
63,388,041 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6930:Iqch
|
UTSW |
9 |
63,387,856 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7000:Iqch
|
UTSW |
9 |
63,361,892 (GRCm39) |
missense |
probably benign |
|
|
R7026:Iqch
|
UTSW |
9 |
63,432,421 (GRCm39) |
nonsense |
probably null |
|
|
R7066:Iqch
|
UTSW |
9 |
63,432,027 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7111:Iqch
|
UTSW |
9 |
63,419,599 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7129:Iqch
|
UTSW |
9 |
63,329,191 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7177:Iqch
|
UTSW |
9 |
63,329,117 (GRCm39) |
makesense |
probably null |
|
|
R7252:Iqch
|
UTSW |
9 |
63,419,518 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7485:Iqch
|
UTSW |
9 |
63,415,599 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7541:Iqch
|
UTSW |
9 |
63,352,803 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7805:Iqch
|
UTSW |
9 |
63,329,002 (GRCm39) |
splice site |
probably null |
|
|
R7973:Iqch
|
UTSW |
9 |
63,432,228 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8113:Iqch
|
UTSW |
9 |
63,361,855 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8170:Iqch
|
UTSW |
9 |
63,336,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8218:Iqch
|
UTSW |
9 |
63,389,915 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8687:Iqch
|
UTSW |
9 |
63,432,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8811:Iqch
|
UTSW |
9 |
63,452,195 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9020:Iqch
|
UTSW |
9 |
63,432,526 (GRCm39) |
missense |
probably benign |
|
|
R9194:Iqch
|
UTSW |
9 |
63,479,961 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9232:Iqch
|
UTSW |
9 |
63,329,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9532:Iqch
|
UTSW |
9 |
63,389,935 (GRCm39) |
missense |
|
|
|
X0066:Iqch
|
UTSW |
9 |
63,336,340 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2016-08-02 |
Incidental Mutation