Incidental Mutation 'IGL01611:Iqch'
ID |
92127 |
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 # |
IGL01611
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
63328737-63509775 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to C
at 63403519 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131828
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042322]
[ENSMUST00000080527]
[ENSMUST00000163624]
[ENSMUST00000163982]
[ENSMUST00000171243]
|
AlphaFold |
Q9D2K4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000042322
|
SMART Domains |
Protein: ENSMUSP00000047953 Gene: ENSMUSG00000037801
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 null
Transcript: ENSMUST00000080527
|
SMART Domains |
Protein: ENSMUSP00000079370 Gene: ENSMUSG00000037801
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 null
Transcript: ENSMUST00000163624
|
SMART Domains |
Protein: ENSMUSP00000128482 Gene: ENSMUSG00000037801
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 null
Transcript: ENSMUST00000163982
|
SMART Domains |
Protein: ENSMUSP00000126546 Gene: ENSMUSG00000037801
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 null
Transcript: ENSMUST00000171243
|
SMART Domains |
Protein: ENSMUSP00000131828 Gene: ENSMUSG00000037801
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191455
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447C04Rik |
A |
G |
12: 72,954,644 (GRCm39) |
L209S |
possibly damaging |
Het |
Abcc2 |
G |
T |
19: 43,815,068 (GRCm39) |
V1152F |
probably damaging |
Het |
Adam9 |
C |
T |
8: 25,457,212 (GRCm39) |
V639I |
probably benign |
Het |
Cdc6 |
A |
G |
11: 98,805,989 (GRCm39) |
I388V |
probably benign |
Het |
Chrm5 |
C |
T |
2: 112,310,651 (GRCm39) |
W155* |
probably null |
Het |
Chrna9 |
A |
G |
5: 66,128,287 (GRCm39) |
D161G |
probably damaging |
Het |
Det1 |
A |
G |
7: 78,477,702 (GRCm39) |
V541A |
possibly damaging |
Het |
Efhc1 |
G |
T |
1: 21,060,911 (GRCm39) |
*649L |
probably null |
Het |
Ehbp1 |
C |
T |
11: 22,122,883 (GRCm39) |
V146M |
probably damaging |
Het |
Enam |
A |
C |
5: 88,651,608 (GRCm39) |
D1039A |
probably damaging |
Het |
Fam20b |
A |
T |
1: 156,530,035 (GRCm39) |
V133E |
probably benign |
Het |
Frem2 |
T |
A |
3: 53,563,130 (GRCm39) |
Q459L |
probably benign |
Het |
Gapdhs |
C |
T |
7: 30,429,866 (GRCm39) |
|
probably benign |
Het |
Gm3404 |
T |
A |
5: 146,465,157 (GRCm39) |
V299D |
possibly damaging |
Het |
Gorasp2 |
C |
A |
2: 70,519,604 (GRCm39) |
H310N |
possibly damaging |
Het |
Gpr157 |
T |
C |
4: 150,186,094 (GRCm39) |
S219P |
possibly damaging |
Het |
Gpt2 |
T |
A |
8: 86,246,167 (GRCm39) |
C375* |
probably null |
Het |
Gtf2h3 |
T |
C |
5: 124,733,748 (GRCm39) |
S274P |
probably damaging |
Het |
Hmg20b |
C |
T |
10: 81,183,309 (GRCm39) |
V83M |
probably benign |
Het |
Igf2r |
G |
T |
17: 12,944,302 (GRCm39) |
Y400* |
probably null |
Het |
Ipo9 |
A |
T |
1: 135,314,431 (GRCm39) |
W942R |
possibly damaging |
Het |
Kcnh3 |
T |
C |
15: 99,127,383 (GRCm39) |
L393P |
probably benign |
Het |
Kcnk12 |
T |
A |
17: 88,104,495 (GRCm39) |
I130L |
probably benign |
Het |
Lcorl |
T |
C |
5: 45,904,434 (GRCm39) |
T205A |
probably damaging |
Het |
Lpar6 |
G |
T |
14: 73,476,878 (GRCm39) |
A280S |
probably damaging |
Het |
Mgarp |
A |
T |
3: 51,296,570 (GRCm39) |
V152E |
probably damaging |
Het |
Pard3b |
A |
G |
1: 62,677,021 (GRCm39) |
D1184G |
probably damaging |
Het |
Pcnt |
A |
G |
10: 76,272,258 (GRCm39) |
|
probably null |
Het |
Pde6b |
A |
G |
5: 108,551,262 (GRCm39) |
N182S |
possibly damaging |
Het |
Pom121 |
T |
C |
5: 135,412,526 (GRCm39) |
K516E |
unknown |
Het |
Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
Ptpn18 |
T |
C |
1: 34,498,898 (GRCm39) |
|
probably benign |
Het |
Rapgef5 |
C |
T |
12: 117,717,154 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,606,202 (GRCm39) |
L4460S |
possibly damaging |
Het |
Sema6b |
T |
C |
17: 56,436,969 (GRCm39) |
|
probably null |
Het |
Serpinb6d |
T |
A |
13: 33,850,375 (GRCm39) |
C67* |
probably null |
Het |
Sorbs2 |
T |
G |
8: 46,248,381 (GRCm39) |
V510G |
probably null |
Het |
Spic |
T |
A |
10: 88,511,864 (GRCm39) |
I131F |
possibly damaging |
Het |
Spire2 |
T |
C |
8: 124,086,137 (GRCm39) |
S290P |
probably damaging |
Het |
Tas2r117 |
C |
T |
6: 132,780,447 (GRCm39) |
S195F |
probably benign |
Het |
Tas2r117 |
T |
C |
6: 132,780,450 (GRCm39) |
V196A |
probably damaging |
Het |
Tff1 |
C |
T |
17: 31,381,703 (GRCm39) |
G58D |
probably damaging |
Het |
Tmprss11g |
T |
C |
5: 86,638,640 (GRCm39) |
T283A |
probably benign |
Het |
Toporsl |
T |
A |
4: 52,610,794 (GRCm39) |
L229H |
probably damaging |
Het |
Vmn2r80 |
G |
A |
10: 79,007,488 (GRCm39) |
G488D |
probably damaging |
Het |
Vps54 |
T |
A |
11: 21,261,082 (GRCm39) |
V583D |
probably damaging |
Het |
Vwa1 |
T |
C |
4: 155,855,255 (GRCm39) |
E286G |
possibly damaging |
Het |
Vwde |
A |
T |
6: 13,219,977 (GRCm39) |
I58N |
probably damaging |
Het |
Zbtb11 |
T |
C |
16: 55,800,973 (GRCm39) |
V109A |
probably damaging |
Het |
Zfp319 |
C |
T |
8: 96,055,540 (GRCm39) |
R221Q |
probably benign |
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 |
IGL02608:Iqch
|
APN |
9 |
63,329,110 (GRCm39) |
unclassified |
probably benign |
|
IGL03060:Iqch
|
APN |
9 |
63,432,196 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-12-09 |