Incidental Mutation 'R6352:Hycc2'
ID |
513264 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hycc2
|
Ensembl Gene |
ENSMUSG00000038174 |
Gene Name |
hyccin PI4KA lipid kinase complex subunit 2 |
Synonyms |
Fam126b, D1Ertd53e |
MMRRC Submission |
044504-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.865)
|
Stock # |
R6352 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
58561965-58625482 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 58596471 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 38
(V38A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123728
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038372]
[ENSMUST00000097724]
[ENSMUST00000161000]
[ENSMUST00000161600]
[ENSMUST00000187717]
|
AlphaFold |
Q8C729 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038372
AA Change: V38A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000038718 Gene: ENSMUSG00000038174 AA Change: V38A
Domain | Start | End | E-Value | Type |
Pfam:Hyccin
|
20 |
330 |
1.7e-137 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097724
AA Change: V38A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095331 Gene: ENSMUSG00000038174 AA Change: V38A
Domain | Start | End | E-Value | Type |
Pfam:Hyccin
|
22 |
330 |
3.3e-126 |
PFAM |
low complexity region
|
374 |
399 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159980
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160546
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161000
AA Change: V38A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000125653 Gene: ENSMUSG00000038174 AA Change: V38A
Domain | Start | End | E-Value | Type |
Pfam:Hyccin
|
20 |
99 |
3e-33 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161600
AA Change: V38A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123728 Gene: ENSMUSG00000038174 AA Change: V38A
Domain | Start | End | E-Value | Type |
Pfam:Hyccin
|
20 |
330 |
1.7e-137 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000187717
AA Change: V38A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.4070 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
96% (48/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700122O11Rik |
T |
C |
17: 48,347,945 (GRCm39) |
S120G |
probably benign |
Het |
Abca13 |
G |
A |
11: 9,259,139 (GRCm39) |
|
probably null |
Het |
Aco1 |
G |
A |
4: 40,186,367 (GRCm39) |
R593Q |
probably benign |
Het |
Adgra3 |
T |
A |
5: 50,136,478 (GRCm39) |
D669V |
probably benign |
Het |
Adgra3 |
T |
A |
5: 50,147,592 (GRCm39) |
M483L |
probably benign |
Het |
Ccdc42 |
T |
C |
11: 68,485,191 (GRCm39) |
V88A |
probably damaging |
Het |
Cdh16 |
G |
C |
8: 105,343,624 (GRCm39) |
S624C |
probably damaging |
Het |
Cpt1c |
A |
T |
7: 44,616,219 (GRCm39) |
|
probably null |
Het |
Cul9 |
T |
C |
17: 46,822,241 (GRCm39) |
T1795A |
probably benign |
Het |
Dnah2 |
C |
T |
11: 69,339,053 (GRCm39) |
V3098I |
probably damaging |
Het |
Fbxl16 |
T |
C |
17: 26,037,919 (GRCm39) |
L426P |
probably damaging |
Het |
Flt4 |
T |
C |
11: 49,534,333 (GRCm39) |
I1168T |
probably benign |
Het |
Fmo5 |
T |
C |
3: 97,552,991 (GRCm39) |
V313A |
probably benign |
Het |
Foxj3 |
A |
G |
4: 119,442,975 (GRCm39) |
N133S |
probably damaging |
Het |
Gbp8 |
T |
C |
5: 105,162,926 (GRCm39) |
I489M |
possibly damaging |
Het |
Gm10801 |
TC |
TCGAC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
Hdgfl1 |
T |
G |
13: 26,953,733 (GRCm39) |
E113D |
probably benign |
Het |
Heatr5a |
A |
T |
12: 51,997,949 (GRCm39) |
S317T |
possibly damaging |
Het |
Insr |
C |
T |
8: 3,223,479 (GRCm39) |
|
probably null |
Het |
Iqcf5 |
A |
G |
9: 106,392,929 (GRCm39) |
E62G |
possibly damaging |
Het |
Kcnj3 |
G |
A |
2: 55,327,561 (GRCm39) |
V117I |
probably benign |
Het |
Klf9 |
T |
A |
19: 23,119,138 (GRCm39) |
M7K |
probably benign |
Het |
Mboat1 |
G |
A |
13: 30,386,403 (GRCm39) |
G139E |
possibly damaging |
Het |
Mical3 |
T |
C |
6: 120,929,434 (GRCm39) |
T1811A |
probably damaging |
Het |
Mllt10 |
A |
C |
2: 18,128,604 (GRCm39) |
K117T |
probably damaging |
Het |
Mpped1 |
A |
G |
15: 83,720,564 (GRCm39) |
D8G |
probably damaging |
Het |
Myh4 |
A |
T |
11: 67,143,108 (GRCm39) |
D1012V |
probably damaging |
Het |
Myo9b |
C |
A |
8: 71,801,054 (GRCm39) |
P1070T |
probably benign |
Het |
Myo9b |
C |
T |
8: 71,801,055 (GRCm39) |
P1071L |
probably benign |
Het |
Nlrp1b |
T |
A |
11: 71,072,527 (GRCm39) |
I439F |
probably damaging |
Het |
Nlrp9a |
T |
A |
7: 26,257,051 (GRCm39) |
I134N |
probably damaging |
Het |
Nop2 |
C |
T |
6: 125,114,170 (GRCm39) |
T212M |
probably benign |
Het |
Notch4 |
T |
C |
17: 34,786,435 (GRCm39) |
C188R |
probably damaging |
Het |
Or10q12 |
A |
T |
19: 13,745,828 (GRCm39) |
M41L |
probably benign |
Het |
Or2ag19 |
G |
T |
7: 106,444,429 (GRCm39) |
V204F |
probably damaging |
Het |
Pgd |
C |
T |
4: 149,245,209 (GRCm39) |
|
probably null |
Het |
Plet1 |
T |
C |
9: 50,412,407 (GRCm39) |
S142P |
probably damaging |
Het |
Ptk7 |
A |
T |
17: 46,887,816 (GRCm39) |
W539R |
probably benign |
Het |
Ptprd |
A |
T |
4: 76,009,789 (GRCm39) |
|
probably null |
Het |
Rgs22 |
T |
G |
15: 36,093,067 (GRCm39) |
Q402P |
probably damaging |
Het |
Rpl10a |
T |
C |
17: 28,549,820 (GRCm39) |
V167A |
possibly damaging |
Het |
Sdr16c5 |
A |
G |
4: 4,016,421 (GRCm39) |
S2P |
probably benign |
Het |
Slc14a2 |
T |
C |
18: 78,252,309 (GRCm39) |
M1V |
probably null |
Het |
Spta1 |
T |
A |
1: 174,039,212 (GRCm39) |
M1185K |
possibly damaging |
Het |
Syde2 |
G |
T |
3: 145,704,229 (GRCm39) |
E127* |
probably null |
Het |
Thoc2l |
A |
G |
5: 104,668,064 (GRCm39) |
E862G |
probably benign |
Het |
Ugt2b38 |
T |
A |
5: 87,571,860 (GRCm39) |
R57S |
possibly damaging |
Het |
Wdr11 |
C |
T |
7: 129,208,399 (GRCm39) |
L385F |
possibly damaging |
Het |
Wdr74 |
T |
C |
19: 8,716,822 (GRCm39) |
V200A |
possibly damaging |
Het |
|
Other mutations in Hycc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00425:Hycc2
|
APN |
1 |
58,579,412 (GRCm39) |
splice site |
probably benign |
|
IGL00468:Hycc2
|
APN |
1 |
58,569,391 (GRCm39) |
missense |
probably benign |
0.25 |
IGL00701:Hycc2
|
APN |
1 |
58,574,641 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL00795:Hycc2
|
APN |
1 |
58,591,338 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02023:Hycc2
|
APN |
1 |
58,569,274 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL02501:Hycc2
|
APN |
1 |
58,579,350 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02657:Hycc2
|
APN |
1 |
58,574,561 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02970:Hycc2
|
APN |
1 |
58,578,776 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03221:Hycc2
|
APN |
1 |
58,579,345 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03240:Hycc2
|
APN |
1 |
58,569,076 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4812001:Hycc2
|
UTSW |
1 |
58,587,862 (GRCm39) |
missense |
possibly damaging |
0.78 |
R0455:Hycc2
|
UTSW |
1 |
58,573,638 (GRCm39) |
splice site |
probably benign |
|
R1479:Hycc2
|
UTSW |
1 |
58,591,427 (GRCm39) |
nonsense |
probably null |
|
R1529:Hycc2
|
UTSW |
1 |
58,578,766 (GRCm39) |
missense |
probably benign |
0.00 |
R4275:Hycc2
|
UTSW |
1 |
58,569,092 (GRCm39) |
missense |
probably benign |
|
R5164:Hycc2
|
UTSW |
1 |
58,574,597 (GRCm39) |
missense |
probably benign |
0.13 |
R6332:Hycc2
|
UTSW |
1 |
58,569,034 (GRCm39) |
missense |
probably damaging |
0.99 |
R6549:Hycc2
|
UTSW |
1 |
58,578,759 (GRCm39) |
missense |
probably benign |
0.03 |
R7034:Hycc2
|
UTSW |
1 |
58,574,696 (GRCm39) |
missense |
probably benign |
0.17 |
R7036:Hycc2
|
UTSW |
1 |
58,574,696 (GRCm39) |
missense |
probably benign |
0.17 |
R7100:Hycc2
|
UTSW |
1 |
58,573,653 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7237:Hycc2
|
UTSW |
1 |
58,569,107 (GRCm39) |
nonsense |
probably null |
|
R7378:Hycc2
|
UTSW |
1 |
58,569,193 (GRCm39) |
missense |
probably benign |
0.00 |
R7403:Hycc2
|
UTSW |
1 |
58,587,861 (GRCm39) |
missense |
possibly damaging |
0.59 |
R8015:Hycc2
|
UTSW |
1 |
58,574,641 (GRCm39) |
missense |
possibly damaging |
0.59 |
R8249:Hycc2
|
UTSW |
1 |
58,573,796 (GRCm39) |
missense |
probably benign |
0.10 |
R8544:Hycc2
|
UTSW |
1 |
58,568,981 (GRCm39) |
missense |
probably benign |
0.09 |
R8726:Hycc2
|
UTSW |
1 |
58,585,285 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8829:Hycc2
|
UTSW |
1 |
58,587,832 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8832:Hycc2
|
UTSW |
1 |
58,587,832 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8847:Hycc2
|
UTSW |
1 |
58,595,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R9046:Hycc2
|
UTSW |
1 |
58,568,945 (GRCm39) |
missense |
probably damaging |
0.99 |
R9177:Hycc2
|
UTSW |
1 |
58,591,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R9268:Hycc2
|
UTSW |
1 |
58,591,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R9472:Hycc2
|
UTSW |
1 |
58,574,641 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCAAAGCAACTATCAGGATG -3'
(R):5'- GGGTAGCTTTAAGATGACATGTTC -3'
Sequencing Primer
(F):5'- CCAAAGCAACTATCAGGATGAAAAAG -3'
(R):5'- CATGGATAAGTAGCTAGAAAACTTGC -3'
|
Posted On |
2018-04-27 |