Incidental Mutation 'R0710:Iqch'
| ID |
62703 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqch
|
| Ensembl Gene |
ENSMUSG00000037801 |
| Gene Name |
IQ motif containing H |
| Synonyms |
4921504K03Rik |
| MMRRC Submission |
038893-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R0710 (G1)
|
| Quality Score |
118 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
63328737-63509775 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 63432418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 287
(S287T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042322]
[ENSMUST00000080527]
[ENSMUST00000163624]
[ENSMUST00000163982]
[ENSMUST00000171243]
|
| AlphaFold |
Q9D2K4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042322
AA Change: S326T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000047953
Gene: ENSMUSG00000037801
AA Change: S326T
| 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
AA Change: S326T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000079370
Gene: ENSMUSG00000037801
AA Change: S326T
| 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 benign
Transcript: ENSMUST00000163624
AA Change: S326T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128482
Gene: ENSMUSG00000037801
AA Change: S326T
| 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: ENSMUST00000163982
AA Change: S326T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126546
Gene: ENSMUSG00000037801
AA Change: S326T
| 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: ENSMUST00000171243
AA Change: S287T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000131828
Gene: ENSMUSG00000037801
AA Change: S287T
| 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: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Celsr2 |
A |
G |
3: 108,320,028 (GRCm39) |
V928A |
probably benign |
Het |
| Farp1 |
C |
T |
14: 121,474,555 (GRCm39) |
T256M |
probably damaging |
Het |
| Fbxl3 |
G |
T |
14: 103,326,751 (GRCm39) |
H162Q |
probably damaging |
Het |
| Glra3 |
C |
T |
8: 56,578,399 (GRCm39) |
|
probably benign |
Het |
| Gpatch8 |
A |
G |
11: 102,372,759 (GRCm39) |
S260P |
unknown |
Het |
| Hectd4 |
G |
A |
5: 121,474,691 (GRCm39) |
V2771I |
probably benign |
Het |
| Hgf |
C |
A |
5: 16,771,761 (GRCm39) |
C129* |
probably null |
Het |
| Hmg20a |
G |
A |
9: 56,381,954 (GRCm39) |
D77N |
possibly damaging |
Het |
| Kcnj11 |
T |
C |
7: 45,748,549 (GRCm39) |
Y258C |
probably benign |
Het |
| Kif1c |
A |
G |
11: 70,617,323 (GRCm39) |
T874A |
probably benign |
Het |
| Mlc1 |
G |
T |
15: 88,862,067 (GRCm39) |
Q50K |
possibly damaging |
Het |
| Mtor |
T |
C |
4: 148,548,848 (GRCm39) |
S544P |
possibly damaging |
Het |
| Mypop |
A |
T |
7: 18,734,485 (GRCm39) |
|
probably null |
Het |
| Poli |
A |
T |
18: 70,655,961 (GRCm39) |
|
probably null |
Het |
| Rasa3 |
C |
A |
8: 13,633,830 (GRCm39) |
V478L |
probably damaging |
Het |
| Scn3a |
A |
T |
2: 65,299,390 (GRCm39) |
M1372K |
probably damaging |
Het |
| Sinhcaf |
A |
G |
6: 148,834,498 (GRCm39) |
|
probably null |
Het |
| Sis |
T |
C |
3: 72,859,864 (GRCm39) |
Q297R |
probably damaging |
Het |
| Tnpo3 |
T |
C |
6: 29,586,074 (GRCm39) |
D172G |
possibly damaging |
Het |
| Tulp2 |
T |
A |
7: 45,170,232 (GRCm39) |
V301D |
possibly damaging |
Het |
| Ubr2 |
G |
A |
17: 47,249,607 (GRCm39) |
R1582W |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,783,181 (GRCm39) |
S706P |
probably damaging |
Het |
| Vmn1r171 |
C |
A |
7: 23,332,426 (GRCm39) |
S205Y |
probably damaging |
Het |
| Wnk4 |
G |
A |
11: 101,164,932 (GRCm39) |
A754T |
probably benign |
Het |
| Zfp282 |
C |
T |
6: 47,857,318 (GRCm39) |
R184W |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCCGGAAGGTTTAACAGCATC -3'
(R):5'- AGAATCAGTCCTAGCAGCCATGCC -3'
Sequencing Primer
(F):5'- TGAACTGGGTTCTCTAACACAGC -3'
(R):5'- CATCACTGGGTGGTAATTGATGAAG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation