Incidental Mutation 'R5829:Iqch'
ID |
450328 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Iqch
|
Ensembl Gene |
ENSMUSG00000037801 |
Gene Name |
IQ motif containing H |
Synonyms |
4921504K03Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R5829 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
63328737-63509775 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 63332639 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: ENSMUST00000187259
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191455
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
Atp6v1e2 |
T |
C |
17: 87,252,144 (GRCm39) |
R85G |
probably benign |
Het |
Bmpr1b |
T |
C |
3: 141,550,918 (GRCm39) |
H391R |
probably benign |
Het |
Camsap3 |
A |
G |
8: 3,647,899 (GRCm39) |
H69R |
probably damaging |
Het |
Cimip2a |
G |
A |
2: 25,108,869 (GRCm39) |
|
probably null |
Het |
Col12a1 |
C |
T |
9: 79,540,955 (GRCm39) |
G2391R |
probably damaging |
Het |
Dab2ip |
ATCCT |
ATCCTCCT |
2: 35,597,787 (GRCm39) |
|
probably benign |
Het |
Epha4 |
G |
A |
1: 77,421,631 (GRCm39) |
L284F |
probably benign |
Het |
Fat4 |
T |
C |
3: 39,061,454 (GRCm39) |
S4346P |
probably damaging |
Het |
Fbxo22 |
T |
A |
9: 55,125,596 (GRCm39) |
|
probably null |
Het |
Gcc1 |
C |
A |
6: 28,419,690 (GRCm39) |
|
probably benign |
Het |
Gdf10 |
T |
C |
14: 33,654,674 (GRCm39) |
S394P |
probably damaging |
Het |
Gdf9 |
C |
T |
11: 53,324,516 (GRCm39) |
T95M |
probably benign |
Het |
Gpr179 |
G |
A |
11: 97,226,524 (GRCm39) |
S1877L |
probably benign |
Het |
Gtf2i |
A |
G |
5: 134,292,547 (GRCm39) |
V380A |
probably damaging |
Het |
Il17c |
G |
A |
8: 123,148,970 (GRCm39) |
R38Q |
probably damaging |
Het |
Il17rd |
G |
A |
14: 26,814,042 (GRCm39) |
|
probably null |
Het |
Lrrc37 |
C |
T |
11: 103,432,712 (GRCm39) |
E1310K |
possibly damaging |
Het |
Mpp4 |
A |
T |
1: 59,168,101 (GRCm39) |
S456R |
probably damaging |
Het |
Nek10 |
T |
C |
14: 14,865,404 (GRCm38) |
Y601H |
probably damaging |
Het |
Nrxn2 |
C |
T |
19: 6,540,879 (GRCm39) |
P936L |
probably benign |
Het |
Or8b44 |
T |
A |
9: 38,410,545 (GRCm39) |
Y193* |
probably null |
Het |
Pcdhb9 |
T |
C |
18: 37,534,942 (GRCm39) |
V312A |
probably damaging |
Het |
Pex5l |
T |
C |
3: 33,060,139 (GRCm39) |
T211A |
probably benign |
Het |
Pik3c2a |
T |
C |
7: 115,972,049 (GRCm39) |
T794A |
probably benign |
Het |
Pla2g6 |
A |
G |
15: 79,171,893 (GRCm39) |
F710L |
possibly damaging |
Het |
Repin1 |
A |
T |
6: 48,571,766 (GRCm39) |
|
probably benign |
Het |
Rev3l |
A |
T |
10: 39,682,902 (GRCm39) |
E340V |
probably damaging |
Het |
Ryr3 |
A |
G |
2: 112,690,076 (GRCm39) |
S1158P |
probably damaging |
Het |
S100a16 |
A |
T |
3: 90,449,454 (GRCm39) |
Q43L |
possibly damaging |
Het |
Scg2 |
A |
G |
1: 79,414,637 (GRCm39) |
S29P |
probably damaging |
Het |
Sfrp5 |
T |
C |
19: 42,190,095 (GRCm39) |
Y119C |
probably damaging |
Het |
Sh3tc2 |
A |
G |
18: 62,123,986 (GRCm39) |
T916A |
probably benign |
Het |
Smpd3 |
A |
G |
8: 106,991,512 (GRCm39) |
V347A |
probably benign |
Het |
Tmem212 |
C |
A |
3: 27,939,081 (GRCm39) |
C135F |
possibly damaging |
Het |
Unc13c |
T |
A |
9: 73,600,650 (GRCm39) |
N1365Y |
probably benign |
Het |
Usp13 |
G |
T |
3: 32,940,672 (GRCm39) |
G395C |
possibly damaging |
Het |
Vmn2r68 |
T |
C |
7: 84,886,812 (GRCm39) |
N34S |
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 |
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 |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCTGGCTTTCAAAATGGC -3'
(R):5'- CCCTGAAGATTGCCACCTTG -3'
Sequencing Primer
(F):5'- CCTGGCTTTCAAAATGGCAGTGAG -3'
(R):5'- AAGATTGCCACCTTGTGAGATTG -3'
|
Posted On |
2016-12-20 |