Incidental Mutation 'R0629:Iqch'
ID |
57760 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Iqch
|
Ensembl Gene |
ENSMUSG00000037801 |
Gene Name |
IQ motif containing H |
Synonyms |
4921504K03Rik |
MMRRC Submission |
038818-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R0629 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
63328737-63509775 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 63332664 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1019
(D1019E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047953
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042322]
[ENSMUST00000080527]
[ENSMUST00000163624]
[ENSMUST00000163982]
[ENSMUST00000171243]
|
AlphaFold |
Q9D2K4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042322
AA Change: D1019E
PolyPhen 2
Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000047953 Gene: ENSMUSG00000037801 AA Change: D1019E
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: D785E
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000079370 Gene: ENSMUSG00000037801 AA Change: D785E
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: D978E
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000128482 Gene: ENSMUSG00000037801 AA Change: D978E
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: D990E
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000126546 Gene: ENSMUSG00000037801 AA Change: D990E
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: D980E
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000131828 Gene: ENSMUSG00000037801 AA Change: D980E
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187259
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191455
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.6%
|
Validation Efficiency |
100% (66/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
A |
T |
17: 45,818,473 (GRCm39) |
D86V |
probably damaging |
Het |
Adamts14 |
G |
A |
10: 61,047,403 (GRCm39) |
Q733* |
probably null |
Het |
Adcy10 |
A |
G |
1: 165,370,674 (GRCm39) |
D651G |
probably damaging |
Het |
Apcdd1 |
T |
A |
18: 63,067,041 (GRCm39) |
C52S |
probably damaging |
Het |
Bclaf1 |
T |
C |
10: 20,209,172 (GRCm39) |
S463P |
probably damaging |
Het |
Cabcoco1 |
T |
C |
10: 68,352,108 (GRCm39) |
Y68C |
probably damaging |
Het |
Cacna1f |
G |
A |
X: 7,486,673 (GRCm39) |
S888N |
probably damaging |
Het |
Cacna1g |
A |
G |
11: 94,300,369 (GRCm39) |
C2134R |
possibly damaging |
Het |
Cdc37 |
A |
C |
9: 21,052,064 (GRCm39) |
M325R |
possibly damaging |
Het |
Clca3a2 |
T |
A |
3: 144,778,000 (GRCm39) |
M762L |
probably benign |
Het |
Cntn3 |
C |
T |
6: 102,180,937 (GRCm39) |
V753M |
probably damaging |
Het |
Col6a6 |
A |
T |
9: 105,604,364 (GRCm39) |
|
probably benign |
Het |
Dscaml1 |
A |
G |
9: 45,632,716 (GRCm39) |
D1194G |
probably damaging |
Het |
Egfr |
G |
A |
11: 16,819,333 (GRCm39) |
G288S |
probably damaging |
Het |
Fbxl17 |
G |
T |
17: 63,778,409 (GRCm39) |
N19K |
probably damaging |
Het |
Fmo3 |
A |
G |
1: 162,785,796 (GRCm39) |
|
probably benign |
Het |
Frmd6 |
T |
C |
12: 70,930,536 (GRCm39) |
Y219H |
probably damaging |
Het |
Fuca1 |
T |
C |
4: 135,652,955 (GRCm39) |
V193A |
possibly damaging |
Het |
Gm7461 |
C |
T |
8: 4,727,769 (GRCm39) |
|
noncoding transcript |
Het |
Gpc5 |
T |
A |
14: 115,789,651 (GRCm39) |
N508K |
possibly damaging |
Het |
Isyna1 |
A |
G |
8: 71,047,358 (GRCm39) |
Y27C |
probably damaging |
Het |
Itgb8 |
T |
G |
12: 119,166,216 (GRCm39) |
H105P |
probably benign |
Het |
Kbtbd11 |
C |
T |
8: 15,077,572 (GRCm39) |
P57L |
probably benign |
Het |
Kcns3 |
A |
C |
12: 11,142,559 (GRCm39) |
C47G |
probably damaging |
Het |
Kif21b |
A |
T |
1: 136,099,895 (GRCm39) |
|
probably null |
Het |
Lama3 |
A |
T |
18: 12,552,302 (GRCm39) |
H418L |
possibly damaging |
Het |
Lrit3 |
A |
G |
3: 129,581,951 (GRCm39) |
Y679H |
probably damaging |
Het |
Lrrc19 |
T |
A |
4: 94,526,489 (GRCm39) |
D356V |
probably damaging |
Het |
Morc2b |
A |
G |
17: 33,354,781 (GRCm39) |
M997T |
probably benign |
Het |
Mroh9 |
T |
C |
1: 162,888,205 (GRCm39) |
H290R |
possibly damaging |
Het |
Mtcl1 |
A |
T |
17: 66,645,137 (GRCm39) |
S1886T |
possibly damaging |
Het |
Muc20 |
T |
C |
16: 32,613,791 (GRCm39) |
T529A |
possibly damaging |
Het |
Myo7a |
A |
C |
7: 97,734,673 (GRCm39) |
L607R |
probably damaging |
Het |
Myom2 |
T |
A |
8: 15,119,783 (GRCm39) |
F180I |
probably damaging |
Het |
Myt1l |
G |
A |
12: 29,861,484 (GRCm39) |
E89K |
unknown |
Het |
Nek2 |
A |
G |
1: 191,563,429 (GRCm39) |
N431S |
probably benign |
Het |
Oprm1 |
A |
T |
10: 6,782,604 (GRCm39) |
|
probably null |
Het |
Or2aj4 |
A |
T |
16: 19,384,730 (GRCm39) |
V301E |
possibly damaging |
Het |
Or5t7 |
T |
A |
2: 86,506,873 (GRCm39) |
H268L |
possibly damaging |
Het |
Oxsr1 |
A |
G |
9: 119,070,850 (GRCm39) |
|
probably benign |
Het |
Pasd1 |
G |
C |
X: 70,982,379 (GRCm39) |
R296P |
possibly damaging |
Het |
Pdgfrb |
G |
A |
18: 61,211,720 (GRCm39) |
|
probably null |
Het |
Proser1 |
C |
A |
3: 53,386,485 (GRCm39) |
P789Q |
probably benign |
Het |
Ptgs2 |
A |
G |
1: 149,976,788 (GRCm39) |
Q7R |
probably benign |
Het |
Rab3d |
A |
G |
9: 21,825,982 (GRCm39) |
V144A |
probably benign |
Het |
Ralgapb |
T |
A |
2: 158,281,467 (GRCm39) |
L167H |
probably damaging |
Het |
Ranbp3 |
A |
G |
17: 57,015,200 (GRCm39) |
T301A |
possibly damaging |
Het |
Rasgrf1 |
G |
A |
9: 89,866,322 (GRCm39) |
V587M |
probably damaging |
Het |
Sec16b |
A |
G |
1: 157,392,433 (GRCm39) |
|
probably benign |
Het |
Sin3b |
T |
C |
8: 73,480,164 (GRCm39) |
|
probably benign |
Het |
Slc10a2 |
T |
C |
8: 5,148,562 (GRCm39) |
S128G |
probably benign |
Het |
Tbl1xr1 |
G |
A |
3: 22,264,565 (GRCm39) |
V507I |
probably benign |
Het |
Tmem8b |
T |
G |
4: 43,669,896 (GRCm39) |
|
probably null |
Het |
Trak1 |
A |
T |
9: 121,196,233 (GRCm39) |
T22S |
probably benign |
Het |
Trim30d |
A |
G |
7: 104,136,862 (GRCm39) |
I114T |
probably damaging |
Het |
Ttc13 |
A |
T |
8: 125,401,105 (GRCm39) |
S624T |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,658,474 (GRCm39) |
|
probably benign |
Het |
Vipr1 |
T |
A |
9: 121,489,237 (GRCm39) |
Y99* |
probably null |
Het |
Vmn1r210 |
T |
C |
13: 23,012,044 (GRCm39) |
K81E |
probably damaging |
Het |
Wwc1 |
T |
C |
11: 35,744,299 (GRCm39) |
Y841C |
probably benign |
Het |
Xrcc4 |
A |
G |
13: 90,149,024 (GRCm39) |
|
probably benign |
Het |
Zdhhc22 |
A |
T |
12: 87,035,071 (GRCm39) |
I127N |
probably damaging |
Het |
Zdhhc7 |
A |
G |
8: 120,814,785 (GRCm39) |
L8P |
possibly damaging |
Het |
Zfp664 |
C |
A |
5: 124,962,659 (GRCm39) |
L18I |
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 |
|
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 |
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'- GTTTCACCTCCAACATCAGAGAGCC -3'
(R):5'- CTCCCTGAAGATTGCCACCTTGTG -3'
Sequencing Primer
(F):5'- CCTGGCTTTCAAAATGGCAG -3'
(R):5'- AAGATTGCCACCTTGTGAGATTG -3'
|
Posted On |
2013-07-11 |