Incidental Mutation 'R6816:Iqch'
| ID |
537342 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqch
|
| Ensembl Gene |
ENSMUSG00000037801 |
| Gene Name |
IQ motif containing H |
| Synonyms |
4921504K03Rik |
| MMRRC Submission |
044928-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R6816 (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 63388041 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 750
(V750I)
|
| 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: V789I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000047953
Gene: ENSMUSG00000037801
AA Change: V789I
| 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
AA Change: V789I
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000128482
Gene: ENSMUSG00000037801
AA Change: V789I
| 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: V789I
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000126546
Gene: ENSMUSG00000037801
AA Change: V789I
| 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: V750I
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000131828
Gene: ENSMUSG00000037801
AA Change: V750I
| 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: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
96% (49/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg5 |
A |
G |
8: 95,668,311 (GRCm39) |
T458A |
probably damaging |
Het |
| Ajm1 |
C |
CTCTA |
2: 25,469,733 (GRCm39) |
|
probably null |
Het |
| Ankrd36 |
T |
G |
11: 5,593,765 (GRCm39) |
F457V |
possibly damaging |
Het |
| Cep152 |
T |
C |
2: 125,436,947 (GRCm39) |
E531G |
probably damaging |
Het |
| Dpf1 |
A |
C |
7: 29,011,087 (GRCm39) |
D162A |
possibly damaging |
Het |
| E2f8 |
A |
T |
7: 48,525,331 (GRCm39) |
Y214N |
possibly damaging |
Het |
| Fer1l5 |
A |
T |
1: 36,445,591 (GRCm39) |
Y786F |
possibly damaging |
Het |
| Fhod1 |
G |
T |
8: 106,057,176 (GRCm39) |
Q933K |
probably benign |
Het |
| Gdap2 |
T |
C |
3: 100,099,021 (GRCm39) |
|
probably null |
Het |
| Grin2d |
A |
G |
7: 45,483,106 (GRCm39) |
|
probably benign |
Het |
| H2bc22 |
C |
T |
13: 21,971,947 (GRCm39) |
S88L |
probably benign |
Het |
| Hgs |
T |
A |
11: 120,362,397 (GRCm39) |
V112D |
probably damaging |
Het |
| Igf2r |
A |
T |
17: 12,932,969 (GRCm39) |
V851E |
probably damaging |
Het |
| Igfn1 |
T |
A |
1: 135,887,466 (GRCm39) |
T2533S |
probably benign |
Het |
| Itih2 |
A |
G |
2: 10,110,517 (GRCm39) |
Y525H |
probably damaging |
Het |
| Kcnu1 |
C |
T |
8: 26,427,762 (GRCm39) |
Q360* |
probably null |
Het |
| Klk1b26 |
A |
G |
7: 43,666,292 (GRCm39) |
N245S |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,610,530 (GRCm39) |
|
probably null |
Het |
| Lhpp |
T |
C |
7: 132,235,762 (GRCm39) |
S116P |
probably benign |
Het |
| Madcam1 |
A |
G |
10: 79,501,274 (GRCm39) |
D113G |
probably damaging |
Het |
| Magi3 |
A |
T |
3: 103,997,227 (GRCm39) |
|
probably null |
Het |
| Map3k9 |
A |
G |
12: 81,769,028 (GRCm39) |
S1007P |
possibly damaging |
Het |
| Mkrn2 |
C |
T |
6: 115,588,689 (GRCm39) |
P144L |
probably damaging |
Het |
| Mon1a |
T |
C |
9: 107,777,609 (GRCm39) |
S171P |
probably damaging |
Het |
| Nrarp |
T |
C |
2: 25,071,319 (GRCm39) |
L66P |
probably damaging |
Het |
| P2ry1 |
T |
A |
3: 60,911,253 (GRCm39) |
F131I |
probably benign |
Het |
| Pdzk1 |
A |
G |
3: 96,761,886 (GRCm39) |
Q166R |
probably benign |
Het |
| Pigt |
G |
T |
2: 164,343,052 (GRCm39) |
V249F |
probably damaging |
Het |
| Ppp1r16b |
G |
T |
2: 158,603,595 (GRCm39) |
V407L |
probably benign |
Het |
| Pramel58 |
A |
T |
5: 94,831,773 (GRCm39) |
Q260L |
possibly damaging |
Het |
| Rab6a |
G |
T |
7: 100,279,080 (GRCm39) |
E73D |
probably damaging |
Het |
| Ralb |
C |
A |
1: 119,405,712 (GRCm39) |
G33* |
probably null |
Het |
| Sema3b |
T |
A |
9: 107,477,549 (GRCm39) |
M491L |
probably benign |
Het |
| Sema3c |
A |
C |
5: 17,875,463 (GRCm39) |
D40A |
probably benign |
Het |
| Slc22a1 |
T |
C |
17: 12,871,370 (GRCm39) |
N464D |
possibly damaging |
Het |
| Spire2 |
T |
A |
8: 124,086,152 (GRCm39) |
S295T |
probably benign |
Het |
| Stat3 |
T |
G |
11: 100,802,093 (GRCm39) |
Q32P |
probably damaging |
Het |
| Sulf2 |
T |
C |
2: 165,924,674 (GRCm39) |
T471A |
probably benign |
Het |
| Sult2b1 |
A |
G |
7: 45,383,102 (GRCm39) |
W227R |
probably damaging |
Het |
| Syt2 |
T |
A |
1: 134,673,538 (GRCm39) |
I294N |
probably damaging |
Het |
| Taar8b |
A |
T |
10: 23,968,079 (GRCm39) |
F38L |
probably benign |
Het |
| Tbl2 |
T |
A |
5: 135,188,069 (GRCm39) |
|
probably null |
Het |
| Tex48 |
G |
A |
4: 63,530,192 (GRCm39) |
S9L |
probably damaging |
Het |
| Tmprss2 |
A |
T |
16: 97,369,667 (GRCm39) |
M369K |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,771,435 (GRCm39) |
S280T |
probably damaging |
Het |
| Tspoap1 |
T |
C |
11: 87,656,491 (GRCm39) |
V263A |
probably benign |
Het |
| Vmn2r74 |
T |
A |
7: 85,610,621 (GRCm39) |
R24* |
probably null |
Het |
| Wdr35 |
G |
A |
12: 9,077,724 (GRCm39) |
|
probably null |
Het |
| Zfp202 |
A |
G |
9: 40,123,109 (GRCm39) |
R624G |
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 |
|
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'- GCTCGGATCAATGAAAGTCAC -3'
(R):5'- GCTTTGACCACAATCCTTGG -3'
Sequencing Primer
(F):5'- TCGGATCAATGAAAGTCACCAGATC -3'
(R):5'- GGCAAGGTAGATATTATGCCTCC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation