Incidental Mutation 'R7541:Iqch'
| ID |
583896 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqch
|
| Ensembl Gene |
ENSMUSG00000037801 |
| Gene Name |
IQ motif containing H |
| Synonyms |
4921504K03Rik |
| MMRRC Submission |
045613-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R7541 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
63421455-63602493 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 63445521 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 955
(V955I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047953
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042322]
[ENSMUST00000080527]
[ENSMUST00000163624]
[ENSMUST00000163982]
[ENSMUST00000171243]
|
| AlphaFold |
Q9D2K4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042322
AA Change: V955I
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000047953
Gene: ENSMUSG00000037801
AA Change: V955I
| 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 benign
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 benign
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 damaging
Transcript: ENSMUST00000171243
AA Change: V916I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131828
Gene: ENSMUSG00000037801
AA Change: V916I
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
96% (51/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020D05Rik |
G |
A |
19: 5,503,411 (GRCm38) |
P114L |
probably benign |
Het |
| 4930539E08Rik |
G |
A |
17: 28,905,324 (GRCm38) |
R335W |
probably damaging |
Het |
| 9530053A07Rik |
T |
A |
7: 28,144,256 (GRCm38) |
C856* |
probably null |
Het |
| Acss2 |
G |
A |
2: 155,574,690 (GRCm38) |
|
probably null |
Het |
| Adamts10 |
G |
A |
17: 33,531,616 (GRCm38) |
R210H |
probably benign |
Het |
| Als2 |
T |
C |
1: 59,167,616 (GRCm38) |
|
probably null |
Het |
| Aplp2 |
A |
T |
9: 31,152,356 (GRCm38) |
M652K |
possibly damaging |
Het |
| Atrn |
A |
G |
2: 130,961,571 (GRCm38) |
I560M |
possibly damaging |
Het |
| Bicc1 |
T |
C |
10: 70,946,604 (GRCm38) |
D602G |
possibly damaging |
Het |
| Cdh4 |
A |
G |
2: 179,444,810 (GRCm38) |
|
probably null |
Het |
| Clasp1 |
T |
A |
1: 118,542,997 (GRCm38) |
|
probably null |
Het |
| Col6a6 |
A |
G |
9: 105,767,324 (GRCm38) |
I1255T |
probably damaging |
Het |
| Comp |
G |
T |
8: 70,381,350 (GRCm38) |
V672L |
probably damaging |
Het |
| Dbnl |
T |
G |
11: 5,795,486 (GRCm38) |
D122E |
probably damaging |
Het |
| Dgkz |
G |
A |
2: 91,942,675 (GRCm38) |
R346C |
probably damaging |
Het |
| Dnhd1 |
C |
T |
7: 105,678,309 (GRCm38) |
R54C |
probably damaging |
Het |
| Elmo3 |
T |
C |
8: 105,306,714 (GRCm38) |
I121T |
probably damaging |
Het |
| Fam184b |
A |
G |
5: 45,542,232 (GRCm38) |
L614P |
probably damaging |
Het |
| Fbxo18 |
T |
C |
2: 11,749,537 (GRCm38) |
R797G |
probably benign |
Het |
| Gata6 |
A |
G |
18: 11,059,108 (GRCm38) |
T392A |
probably damaging |
Het |
| Gm17783 |
T |
A |
16: 45,528,492 (GRCm38) |
T106S |
possibly damaging |
Het |
| Gm21731 |
A |
T |
13: 120,240,979 (GRCm38) |
M104L |
probably benign |
Het |
| Gm29609 |
A |
G |
5: 31,154,232 (GRCm38) |
F855S |
probably benign |
Het |
| Gm3424 |
T |
C |
14: 5,829,330 (GRCm38) |
N88D |
possibly damaging |
Het |
| Gnas |
T |
A |
2: 174,298,099 (GRCm38) |
S80T |
unknown |
Het |
| Hsd17b14 |
C |
A |
7: 45,566,146 (GRCm38) |
P190Q |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,376,384 (GRCm38) |
V164A |
probably benign |
Het |
| Krt87 |
A |
G |
15: 101,438,634 (GRCm38) |
L46P |
probably damaging |
Het |
| Lef1 |
A |
G |
3: 131,191,099 (GRCm38) |
M237V |
probably benign |
Het |
| Lmbr1l |
A |
T |
15: 98,909,386 (GRCm38) |
|
probably null |
Het |
| Lrrc49 |
T |
C |
9: 60,610,403 (GRCm38) |
I408V |
probably damaging |
Het |
| Luc7l3 |
T |
C |
11: 94,295,965 (GRCm38) |
S365G |
unknown |
Het |
| March2 |
A |
T |
17: 33,703,058 (GRCm38) |
C109* |
probably null |
Het |
| Metrnl |
T |
A |
11: 121,715,970 (GRCm38) |
C284S |
probably damaging |
Het |
| Mmachc |
G |
A |
4: 116,705,885 (GRCm38) |
T91I |
probably benign |
Het |
| Mrps7 |
T |
G |
11: 115,606,870 (GRCm38) |
M187R |
probably damaging |
Het |
| Ncapd3 |
A |
G |
9: 27,067,040 (GRCm38) |
E845G |
probably damaging |
Het |
| Olfr1393 |
T |
A |
11: 49,280,333 (GRCm38) |
F62I |
probably damaging |
Het |
| Olfr272 |
A |
T |
4: 52,911,376 (GRCm38) |
D139E |
probably benign |
Het |
| Ooep |
T |
A |
9: 78,378,065 (GRCm38) |
T90S |
possibly damaging |
Het |
| Pcdhb18 |
A |
T |
18: 37,491,609 (GRCm38) |
D664V |
probably damaging |
Het |
| Pigz |
T |
C |
16: 31,945,131 (GRCm38) |
S336P |
probably benign |
Het |
| Pou2f2 |
A |
T |
7: 25,116,128 (GRCm38) |
D71E |
probably benign |
Het |
| Reep6 |
G |
T |
10: 80,335,199 (GRCm38) |
R303L |
possibly damaging |
Het |
| Rmdn2 |
A |
T |
17: 79,627,868 (GRCm38) |
S137C |
|
Het |
| Rnf220 |
A |
T |
4: 117,489,930 (GRCm38) |
L95H |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,579,911 (GRCm38) |
|
probably benign |
Het |
| Stxbp1 |
A |
T |
2: 32,818,505 (GRCm38) |
S83T |
probably damaging |
Het |
| Trappc11 |
T |
C |
8: 47,505,582 (GRCm38) |
|
probably null |
Het |
| Ttn |
G |
T |
2: 76,791,301 (GRCm38) |
D15598E |
probably damaging |
Het |
| Vav2 |
T |
A |
2: 27,275,002 (GRCm38) |
R645W |
probably damaging |
Het |
| Vmn1r169 |
T |
A |
7: 23,577,987 (GRCm38) |
V268D |
probably benign |
Het |
| Zp2 |
A |
T |
7: 120,136,056 (GRCm38) |
C365S |
probably damaging |
Het |
|
| Other mutations in Iqch |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00326:Iqch
|
APN |
9 |
63,480,654 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL01472:Iqch
|
APN |
9 |
63,547,934 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL01553:Iqch
|
APN |
9 |
63,500,917 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01611:Iqch
|
APN |
9 |
63,496,237 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL02608:Iqch
|
APN |
9 |
63,421,828 (GRCm38) |
unclassified |
probably benign |
|
|
IGL03060:Iqch
|
APN |
9 |
63,524,914 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03154:Iqch
|
APN |
9 |
63,454,682 (GRCm38) |
missense |
probably damaging |
0.97 |
|
museum
|
UTSW |
9 |
63,525,139 (GRCm38) |
nonsense |
probably null |
|
|
I2288:Iqch
|
UTSW |
9 |
63,500,890 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0002:Iqch
|
UTSW |
9 |
63,594,743 (GRCm38) |
splice site |
probably benign |
|
|
R0350:Iqch
|
UTSW |
9 |
63,500,876 (GRCm38) |
missense |
probably benign |
0.43 |
|
R0532:Iqch
|
UTSW |
9 |
63,508,232 (GRCm38) |
splice site |
probably benign |
|
|
R0629:Iqch
|
UTSW |
9 |
63,425,382 (GRCm38) |
missense |
probably benign |
0.22 |
|
R0710:Iqch
|
UTSW |
9 |
63,525,136 (GRCm38) |
missense |
probably benign |
|
|
R0766:Iqch
|
UTSW |
9 |
63,482,683 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1797:Iqch
|
UTSW |
9 |
63,588,377 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R1856:Iqch
|
UTSW |
9 |
63,534,337 (GRCm38) |
splice site |
probably null |
|
|
R1954:Iqch
|
UTSW |
9 |
63,548,016 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1955:Iqch
|
UTSW |
9 |
63,548,016 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2184:Iqch
|
UTSW |
9 |
63,525,069 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2264:Iqch
|
UTSW |
9 |
63,512,299 (GRCm38) |
missense |
probably benign |
0.27 |
|
R4614:Iqch
|
UTSW |
9 |
63,482,581 (GRCm38) |
missense |
probably benign |
|
|
R4643:Iqch
|
UTSW |
9 |
63,594,802 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4654:Iqch
|
UTSW |
9 |
63,524,913 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4665:Iqch
|
UTSW |
9 |
63,445,571 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5027:Iqch
|
UTSW |
9 |
63,525,012 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5042:Iqch
|
UTSW |
9 |
63,496,234 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R5551:Iqch
|
UTSW |
9 |
63,496,253 (GRCm38) |
splice site |
probably null |
|
|
R5829:Iqch
|
UTSW |
9 |
63,425,357 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5878:Iqch
|
UTSW |
9 |
63,547,990 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6816:Iqch
|
UTSW |
9 |
63,480,759 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6930:Iqch
|
UTSW |
9 |
63,480,574 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R7000:Iqch
|
UTSW |
9 |
63,454,610 (GRCm38) |
missense |
probably benign |
|
|
R7026:Iqch
|
UTSW |
9 |
63,525,139 (GRCm38) |
nonsense |
probably null |
|
|
R7066:Iqch
|
UTSW |
9 |
63,524,745 (GRCm38) |
missense |
probably benign |
0.24 |
|
R7111:Iqch
|
UTSW |
9 |
63,512,317 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R7129:Iqch
|
UTSW |
9 |
63,421,909 (GRCm38) |
missense |
probably benign |
0.09 |
|
R7177:Iqch
|
UTSW |
9 |
63,421,835 (GRCm38) |
makesense |
probably null |
|
|
R7252:Iqch
|
UTSW |
9 |
63,512,236 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7485:Iqch
|
UTSW |
9 |
63,508,317 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R7805:Iqch
|
UTSW |
9 |
63,421,720 (GRCm38) |
splice site |
probably null |
|
|
R7973:Iqch
|
UTSW |
9 |
63,524,946 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R8113:Iqch
|
UTSW |
9 |
63,454,573 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8170:Iqch
|
UTSW |
9 |
63,429,030 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8218:Iqch
|
UTSW |
9 |
63,482,633 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R8687:Iqch
|
UTSW |
9 |
63,524,785 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8811:Iqch
|
UTSW |
9 |
63,544,913 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R9020:Iqch
|
UTSW |
9 |
63,525,244 (GRCm38) |
missense |
probably benign |
|
|
R9194:Iqch
|
UTSW |
9 |
63,572,679 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9232:Iqch
|
UTSW |
9 |
63,421,918 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9532:Iqch
|
UTSW |
9 |
63,482,653 (GRCm38) |
missense |
|
|
|
X0066:Iqch
|
UTSW |
9 |
63,429,058 (GRCm38) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTTGAATACACCCACCCAATC -3'
(R):5'- TGACCTTTAGGAAATAGCATCCA -3'
Sequencing Primer
(F):5'- CTTAAAGAACATCTCTGTGAAGGAG -3'
(R):5'- GGGTCCCTAGTTATGACAAATGTTCC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation