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: 0.074)
|
Stock # |
R7541 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
63328737-63509775 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 63352803 bp (GRCm39)
|
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 |
Acss2 |
G |
A |
2: 155,416,610 (GRCm39) |
|
probably null |
Het |
Adamts10 |
G |
A |
17: 33,750,590 (GRCm39) |
R210H |
probably benign |
Het |
Als2 |
T |
C |
1: 59,206,775 (GRCm39) |
|
probably null |
Het |
Aplp2 |
A |
T |
9: 31,063,652 (GRCm39) |
M652K |
possibly damaging |
Het |
Atrn |
A |
G |
2: 130,803,491 (GRCm39) |
I560M |
possibly damaging |
Het |
Bicc1 |
T |
C |
10: 70,782,434 (GRCm39) |
D602G |
possibly damaging |
Het |
Bnip5 |
G |
A |
17: 29,124,298 (GRCm39) |
R335W |
probably damaging |
Het |
Cd200l2 |
T |
A |
16: 45,348,855 (GRCm39) |
T106S |
possibly damaging |
Het |
Cdh4 |
A |
G |
2: 179,086,603 (GRCm39) |
|
probably null |
Het |
Clasp1 |
T |
A |
1: 118,470,727 (GRCm39) |
|
probably null |
Het |
Col6a6 |
A |
G |
9: 105,644,523 (GRCm39) |
I1255T |
probably damaging |
Het |
Comp |
G |
T |
8: 70,834,000 (GRCm39) |
V672L |
probably damaging |
Het |
Dbnl |
T |
G |
11: 5,745,486 (GRCm39) |
D122E |
probably damaging |
Het |
Dgkz |
G |
A |
2: 91,773,020 (GRCm39) |
R346C |
probably damaging |
Het |
Dnhd1 |
C |
T |
7: 105,327,516 (GRCm39) |
R54C |
probably damaging |
Het |
Elmo3 |
T |
C |
8: 106,033,346 (GRCm39) |
I121T |
probably damaging |
Het |
Fam184b |
A |
G |
5: 45,699,574 (GRCm39) |
L614P |
probably damaging |
Het |
Fbh1 |
T |
C |
2: 11,754,348 (GRCm39) |
R797G |
probably benign |
Het |
Fcgbpl1 |
T |
A |
7: 27,843,681 (GRCm39) |
C856* |
probably null |
Het |
Gata6 |
A |
G |
18: 11,059,108 (GRCm39) |
T392A |
probably damaging |
Het |
Gm29609 |
A |
G |
5: 31,311,576 (GRCm39) |
F855S |
probably benign |
Het |
Gm3424 |
T |
C |
14: 17,337,195 (GRCm39) |
N88D |
possibly damaging |
Het |
Gnas |
T |
A |
2: 174,139,892 (GRCm39) |
S80T |
unknown |
Het |
Hsd17b14 |
C |
A |
7: 45,215,570 (GRCm39) |
P190Q |
probably damaging |
Het |
Kcnt2 |
T |
C |
1: 140,304,122 (GRCm39) |
V164A |
probably benign |
Het |
Krt87 |
A |
G |
15: 101,336,515 (GRCm39) |
L46P |
probably damaging |
Het |
Lef1 |
A |
G |
3: 130,984,748 (GRCm39) |
M237V |
probably benign |
Het |
Lmbr1l |
A |
T |
15: 98,807,267 (GRCm39) |
|
probably null |
Het |
Lrrc49 |
T |
C |
9: 60,517,686 (GRCm39) |
I408V |
probably damaging |
Het |
Luc7l3 |
T |
C |
11: 94,186,791 (GRCm39) |
S365G |
unknown |
Het |
Marchf2 |
A |
T |
17: 33,922,032 (GRCm39) |
C109* |
probably null |
Het |
Metrnl |
T |
A |
11: 121,606,796 (GRCm39) |
C284S |
probably damaging |
Het |
Mmachc |
G |
A |
4: 116,563,082 (GRCm39) |
T91I |
probably benign |
Het |
Mrps7 |
T |
G |
11: 115,497,696 (GRCm39) |
M187R |
probably damaging |
Het |
Ncapd3 |
A |
G |
9: 26,978,336 (GRCm39) |
E845G |
probably damaging |
Het |
Nscme3l |
G |
A |
19: 5,553,439 (GRCm39) |
P114L |
probably benign |
Het |
Ooep |
T |
A |
9: 78,285,347 (GRCm39) |
T90S |
possibly damaging |
Het |
Or13c25 |
A |
T |
4: 52,911,376 (GRCm39) |
D139E |
probably benign |
Het |
Or2y1g |
T |
A |
11: 49,171,160 (GRCm39) |
F62I |
probably damaging |
Het |
Pcdhb18 |
A |
T |
18: 37,624,662 (GRCm39) |
D664V |
probably damaging |
Het |
Pigz |
T |
C |
16: 31,763,949 (GRCm39) |
S336P |
probably benign |
Het |
Pou2f2 |
A |
T |
7: 24,815,553 (GRCm39) |
D71E |
probably benign |
Het |
Reep6 |
G |
T |
10: 80,171,033 (GRCm39) |
R303L |
possibly damaging |
Het |
Rmdn2 |
A |
T |
17: 79,935,297 (GRCm39) |
S137C |
|
Het |
Rnf220 |
A |
T |
4: 117,347,127 (GRCm39) |
L95H |
probably damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,118 (GRCm39) |
|
probably benign |
Het |
Stxbp1 |
A |
T |
2: 32,708,517 (GRCm39) |
S83T |
probably damaging |
Het |
Tcstv7b |
A |
T |
13: 120,702,515 (GRCm39) |
M104L |
probably benign |
Het |
Trappc11 |
T |
C |
8: 47,958,617 (GRCm39) |
|
probably null |
Het |
Ttn |
G |
T |
2: 76,621,645 (GRCm39) |
D15598E |
probably damaging |
Het |
Vav2 |
T |
A |
2: 27,165,014 (GRCm39) |
R645W |
probably damaging |
Het |
Vmn1r169 |
T |
A |
7: 23,277,412 (GRCm39) |
V268D |
probably benign |
Het |
Zp2 |
A |
T |
7: 119,735,279 (GRCm39) |
C365S |
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 |
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 |
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'- CTTTTGAATACACCCACCCAATC -3'
(R):5'- TGACCTTTAGGAAATAGCATCCA -3'
Sequencing Primer
(F):5'- CTTAAAGAACATCTCTGTGAAGGAG -3'
(R):5'- GGGTCCCTAGTTATGACAAATGTTCC -3'
|
Posted On |
2019-10-17 |