Incidental Mutation 'R7066:Iqch'
| ID |
548577 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqch
|
| Ensembl Gene |
ENSMUSG00000037801 |
| Gene Name |
IQ motif containing H |
| Synonyms |
4921504K03Rik |
| MMRRC Submission |
045162-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R7066 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
63328737-63509775 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63432027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 456
(V456A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079370
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042322]
[ENSMUST00000080527]
[ENSMUST00000163624]
[ENSMUST00000163982]
[ENSMUST00000171243]
|
| AlphaFold |
Q9D2K4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042322
AA Change: V456A
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000047953
Gene: ENSMUSG00000037801
AA Change: V456A
| 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: V456A
PolyPhen 2
Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000079370
Gene: ENSMUSG00000037801
AA Change: V456A
| 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: V456A
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000128482
Gene: ENSMUSG00000037801
AA Change: V456A
| 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: V456A
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000126546
Gene: ENSMUSG00000037801
AA Change: V456A
| 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: V417A
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000131828
Gene: ENSMUSG00000037801
AA Change: V417A
| 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% (52/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
T |
C |
19: 31,904,514 (GRCm39) |
V175A |
probably damaging |
Het |
| Adamts5 |
A |
T |
16: 85,659,652 (GRCm39) |
V880E |
probably damaging |
Het |
| Adgrf1 |
T |
A |
17: 43,621,151 (GRCm39) |
F463I |
probably benign |
Het |
| Ano1 |
T |
A |
7: 144,190,823 (GRCm39) |
E249D |
probably benign |
Het |
| Aoc1 |
A |
G |
6: 48,885,553 (GRCm39) |
D686G |
probably damaging |
Het |
| Cacna1d |
A |
T |
14: 30,074,935 (GRCm39) |
|
probably benign |
Het |
| Cdc42ep4 |
A |
G |
11: 113,620,044 (GRCm39) |
S116P |
probably damaging |
Het |
| Ces2a |
T |
C |
8: 105,466,880 (GRCm39) |
V463A |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,059,192 (GRCm39) |
D297G |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,821,235 (GRCm39) |
V5656E |
possibly damaging |
Het |
| Gbp5 |
A |
G |
3: 142,213,490 (GRCm39) |
T469A |
probably benign |
Het |
| Gm21663 |
C |
G |
5: 26,146,259 (GRCm39) |
|
probably null |
Het |
| Lpcat1 |
A |
C |
13: 73,659,500 (GRCm39) |
I373L |
probably benign |
Het |
| Morc2b |
C |
T |
17: 33,355,610 (GRCm39) |
V721I |
probably benign |
Het |
| Mrgprb1 |
C |
T |
7: 48,097,424 (GRCm39) |
V163M |
probably benign |
Het |
| Mtfr2 |
A |
G |
10: 20,229,972 (GRCm39) |
I142V |
possibly damaging |
Het |
| Muc16 |
A |
T |
9: 18,569,317 (GRCm39) |
S1067R |
unknown |
Het |
| Myh14 |
T |
C |
7: 44,280,179 (GRCm39) |
S892G |
possibly damaging |
Het |
| Mylk2 |
C |
T |
2: 152,753,588 (GRCm39) |
|
probably null |
Het |
| Mzf1 |
A |
T |
7: 12,777,490 (GRCm39) |
V638E |
possibly damaging |
Het |
| Ncoa1 |
C |
T |
12: 4,372,934 (GRCm39) |
V156I |
possibly damaging |
Het |
| Nf1 |
A |
G |
11: 79,447,546 (GRCm39) |
E2450G |
probably damaging |
Het |
| Or14j3 |
T |
A |
17: 37,901,034 (GRCm39) |
D70V |
probably damaging |
Het |
| Or1e29 |
A |
G |
11: 73,668,018 (GRCm39) |
I45T |
probably damaging |
Het |
| Or4a72 |
T |
C |
2: 89,406,047 (GRCm39) |
T8A |
probably damaging |
Het |
| Or4f60 |
G |
A |
2: 111,902,541 (GRCm39) |
P129L |
probably damaging |
Het |
| Or5t7 |
T |
A |
2: 86,507,570 (GRCm39) |
T36S |
possibly damaging |
Het |
| Or6c88 |
T |
C |
10: 129,407,373 (GRCm39) |
L283S |
probably damaging |
Het |
| Or8g54 |
A |
G |
9: 39,707,420 (GRCm39) |
I250V |
probably benign |
Het |
| Or8k17 |
T |
C |
2: 86,067,002 (GRCm39) |
D52G |
probably damaging |
Het |
| P4htm |
T |
G |
9: 108,474,162 (GRCm39) |
K125N |
probably damaging |
Het |
| Patj |
A |
G |
4: 98,301,434 (GRCm39) |
T240A |
probably benign |
Het |
| Pcolce2 |
T |
C |
9: 95,563,674 (GRCm39) |
V220A |
probably benign |
Het |
| Pcyox1 |
A |
T |
6: 86,371,478 (GRCm39) |
I136N |
probably damaging |
Het |
| Pde4b |
A |
G |
4: 102,460,003 (GRCm39) |
S395G |
probably benign |
Het |
| Peg3 |
C |
A |
7: 6,711,856 (GRCm39) |
R1122L |
probably damaging |
Het |
| Plekhm1 |
A |
G |
11: 103,261,814 (GRCm39) |
V922A |
possibly damaging |
Het |
| Rad51c |
T |
C |
11: 87,293,502 (GRCm39) |
N118S |
possibly damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,320,229 (GRCm39) |
V1216D |
possibly damaging |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Rlf |
T |
C |
4: 121,005,984 (GRCm39) |
M999V |
probably benign |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,125 (GRCm39) |
|
probably benign |
Het |
| Samd7 |
G |
C |
3: 30,805,272 (GRCm39) |
K18N |
probably benign |
Het |
| Sema5b |
A |
C |
16: 35,471,682 (GRCm39) |
D425A |
probably benign |
Het |
| Siglecg |
A |
G |
7: 43,061,166 (GRCm39) |
E413G |
probably benign |
Het |
| Tcaf1 |
A |
T |
6: 42,656,111 (GRCm39) |
N288K |
probably damaging |
Het |
| Tdp1 |
A |
G |
12: 99,860,991 (GRCm39) |
D210G |
probably benign |
Het |
| Umps |
A |
T |
16: 33,782,103 (GRCm39) |
L273* |
probably null |
Het |
| Vcan |
A |
T |
13: 89,853,805 (GRCm39) |
V385D |
probably damaging |
Het |
| Wdr59 |
T |
C |
8: 112,192,477 (GRCm39) |
T676A |
probably benign |
Het |
| Zdbf2 |
A |
G |
1: 63,346,718 (GRCm39) |
H1699R |
probably benign |
Het |
| Zfp27 |
AATCCGCTTGTGCA |
AA |
7: 29,594,446 (GRCm39) |
|
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 |
|
|
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'- AGTTTGTGTATCATATCCTGAGGAG -3'
(R):5'- GCTGTTAAACCTTCCGGGAC -3'
Sequencing Primer
(F):5'- TATCCTGAGGAGAATTATAGATGCAG -3'
(R):5'- TTAAACCTTCCGGGACAGAGGTAC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation