Incidental Mutation 'R9532:Iqch'
| ID |
719529 |
| 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: 0.067)
|
| Stock # |
R9532 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
63328737-63509775 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 63389935 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 748
(A748V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047953
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042322]
[ENSMUST00000080527]
[ENSMUST00000163624]
[ENSMUST00000163982]
[ENSMUST00000171243]
|
| AlphaFold |
Q9D2K4 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000047953
Gene: ENSMUSG00000037801
AA Change: A748V
| 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 benign
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 |
probably damaging
Transcript: ENSMUST00000163624
AA Change: A748V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128482
Gene: ENSMUSG00000037801
AA Change: A748V
| 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: A748V
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126546
Gene: ENSMUSG00000037801
AA Change: A748V
| 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: A709V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131828
Gene: ENSMUSG00000037801
AA Change: A709V
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (50/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
C |
3: 124,350,397 (GRCm39) |
N165S |
unknown |
Het |
| 9530002B09Rik |
C |
A |
4: 122,596,133 (GRCm39) |
N121K |
unknown |
Het |
| Abca1 |
A |
T |
4: 53,109,284 (GRCm39) |
N141K |
probably benign |
Het |
| Amer1 |
ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
X: 94,470,889 (GRCm39) |
|
probably benign |
Het |
| Bco2 |
T |
C |
9: 50,457,371 (GRCm39) |
N57S |
probably benign |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Cacna1a |
T |
A |
8: 85,338,246 (GRCm39) |
W1709R |
probably damaging |
Het |
| Cep95 |
A |
G |
11: 106,687,042 (GRCm39) |
E117G |
probably damaging |
Het |
| D17H6S53E |
T |
A |
17: 35,346,145 (GRCm39) |
S19T |
possibly damaging |
Het |
| Dab2 |
G |
T |
15: 6,451,762 (GRCm39) |
R126L |
probably damaging |
Het |
| Diaph3 |
T |
C |
14: 86,893,916 (GRCm39) |
D31G |
probably damaging |
Het |
| Espl1 |
T |
A |
15: 102,228,260 (GRCm39) |
L1678* |
probably null |
Het |
| Fam171b |
T |
C |
2: 83,710,212 (GRCm39) |
V628A |
probably damaging |
Het |
| Fgf8 |
A |
T |
19: 45,725,679 (GRCm39) |
V186E |
probably damaging |
Het |
| Fmnl2 |
A |
T |
2: 53,006,941 (GRCm39) |
Y751F |
unknown |
Het |
| Frmpd1 |
A |
T |
4: 45,278,886 (GRCm39) |
E537V |
|
Het |
| Garin3 |
A |
G |
11: 46,297,673 (GRCm39) |
T326A |
|
Het |
| Grin1 |
C |
T |
2: 25,187,909 (GRCm39) |
G529D |
probably damaging |
Het |
| Heatr1 |
C |
T |
13: 12,429,306 (GRCm39) |
T872I |
possibly damaging |
Het |
| Hectd4 |
T |
C |
5: 121,502,616 (GRCm39) |
I4240T |
probably benign |
Het |
| Hpd |
C |
T |
5: 123,312,532 (GRCm39) |
R279H |
possibly damaging |
Het |
| Hyls1 |
T |
A |
9: 35,473,398 (GRCm39) |
Q6L |
probably benign |
Het |
| Igfn1 |
A |
T |
1: 135,897,229 (GRCm39) |
D1112E |
possibly damaging |
Het |
| Ighv1-82 |
T |
G |
12: 115,916,158 (GRCm39) |
R117S |
probably damaging |
Het |
| Kcnd2 |
G |
T |
6: 21,727,180 (GRCm39) |
A578S |
probably benign |
Het |
| Klc2 |
A |
G |
19: 5,161,565 (GRCm39) |
V315A |
possibly damaging |
Het |
| Klhl20 |
A |
T |
1: 160,937,329 (GRCm39) |
D15E |
probably benign |
Het |
| Lamb2 |
G |
T |
9: 108,365,830 (GRCm39) |
G1445W |
probably damaging |
Het |
| Lhx4 |
T |
A |
1: 155,586,024 (GRCm39) |
I96F |
probably damaging |
Het |
| Lyzl6 |
T |
C |
11: 103,522,168 (GRCm39) |
T143A |
probably benign |
Het |
| Nup93 |
G |
A |
8: 95,041,249 (GRCm39) |
A796T |
probably damaging |
Het |
| Nutm2 |
T |
C |
13: 50,628,475 (GRCm39) |
V513A |
probably benign |
Het |
| Or51s1 |
A |
G |
7: 102,558,746 (GRCm39) |
V100A |
probably benign |
Het |
| Or52e4 |
A |
T |
7: 104,706,275 (GRCm39) |
H274L |
probably damaging |
Het |
| Pcdh8 |
A |
G |
14: 80,008,206 (GRCm39) |
V119A |
possibly damaging |
Het |
| Pkmyt1 |
T |
C |
17: 23,954,691 (GRCm39) |
I427T |
probably benign |
Het |
| Polr1g |
A |
T |
7: 19,091,817 (GRCm39) |
S97T |
possibly damaging |
Het |
| Polr3c |
T |
C |
3: 96,629,866 (GRCm39) |
D222G |
probably null |
Het |
| Prickle2 |
A |
T |
6: 92,683,096 (GRCm39) |
S11T |
probably benign |
Het |
| Prpf8 |
G |
A |
11: 75,385,608 (GRCm39) |
A930T |
probably benign |
Het |
| Prss40 |
G |
T |
1: 34,597,106 (GRCm39) |
H147Q |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 17,099,794 (GRCm39) |
D1766V |
probably benign |
Het |
| Qrich1 |
C |
T |
9: 108,411,519 (GRCm39) |
T348M |
probably benign |
Het |
| Slc20a1 |
T |
C |
2: 129,041,933 (GRCm39) |
Y99H |
probably damaging |
Het |
| Slc6a15 |
T |
C |
10: 103,240,333 (GRCm39) |
V352A |
probably damaging |
Het |
| Ttll3 |
A |
G |
6: 113,385,970 (GRCm39) |
Q601R |
possibly damaging |
Het |
| Virma |
T |
C |
4: 11,507,078 (GRCm39) |
|
probably null |
Het |
| Washc4 |
A |
G |
10: 83,417,258 (GRCm39) |
|
probably benign |
Het |
| Zdhhc18 |
A |
T |
4: 133,342,541 (GRCm39) |
M191K |
possibly damaging |
Het |
| Zfp281 |
A |
G |
1: 136,554,894 (GRCm39) |
N624S |
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 |
|
|
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 |
|
X0066:Iqch
|
UTSW |
9 |
63,336,340 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAAAGATCTAGGCAGTGC -3'
(R):5'- AAAATGGCTTTCTGGCTCTGGG -3'
Sequencing Primer
(F):5'- GAAGCAGTTTCTACACCAACATTGG -3'
(R):5'- TCTGGCTCTGGGTAAACAGTAACC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation