Incidental Mutation 'R9472:Hycc2'
| ID |
715502 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hycc2
|
| Ensembl Gene |
ENSMUSG00000038174 |
| Gene Name |
hyccin PI4KA lipid kinase complex subunit 2 |
| Synonyms |
Fam126b, D1Ertd53e |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.865)
|
| Stock # |
R9472 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
58561965-58625482 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58574641 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 300
(V300A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038372]
[ENSMUST00000097724]
[ENSMUST00000161600]
[ENSMUST00000187717]
|
| AlphaFold |
Q8C729 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038372
AA Change: V300A
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000038718
Gene: ENSMUSG00000038174
AA Change: V300A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hyccin
|
20 |
330 |
1.7e-137 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097724
AA Change: V300A
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000095331
Gene: ENSMUSG00000038174
AA Change: V300A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hyccin
|
22 |
330 |
3.3e-126 |
PFAM |
|
low complexity region
|
374 |
399 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161600
AA Change: V300A
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000123728
Gene: ENSMUSG00000038174
AA Change: V300A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hyccin
|
20 |
330 |
1.7e-137 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187717
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
G |
8: 25,127,248 (GRCm39) |
K449N |
probably benign |
Het |
| Adam39 |
G |
A |
8: 41,279,351 (GRCm39) |
V581I |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,254,841 (GRCm39) |
F1625S |
|
Het |
| Aox3 |
G |
T |
1: 58,215,669 (GRCm39) |
V1034L |
possibly damaging |
Het |
| Baz2a |
T |
G |
10: 127,948,624 (GRCm39) |
S302A |
probably benign |
Het |
| Capn9 |
T |
C |
8: 125,325,534 (GRCm39) |
|
probably null |
Het |
| Ccdc153 |
A |
T |
9: 44,154,923 (GRCm39) |
Q104L |
possibly damaging |
Het |
| Cdh1 |
A |
T |
8: 107,380,248 (GRCm39) |
N168I |
probably damaging |
Het |
| Crisp3 |
A |
T |
17: 40,539,676 (GRCm39) |
|
probably null |
Het |
| Ctsb |
T |
C |
14: 63,379,186 (GRCm39) |
V266A |
probably damaging |
Het |
| Cyp2c39 |
G |
T |
19: 39,502,043 (GRCm39) |
R144L |
probably damaging |
Het |
| Elmo1 |
C |
T |
13: 20,470,897 (GRCm39) |
A263V |
probably benign |
Het |
| Enkur |
T |
C |
2: 21,201,590 (GRCm39) |
R32G |
possibly damaging |
Het |
| Fsip2 |
T |
A |
2: 82,817,285 (GRCm39) |
N4339K |
possibly damaging |
Het |
| Gsn |
T |
G |
2: 35,182,741 (GRCm39) |
M268R |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,813,843 (GRCm39) |
W2659R |
probably damaging |
Het |
| Ino80e |
A |
G |
7: 126,461,127 (GRCm39) |
V40A |
unknown |
Het |
| Ints2 |
T |
C |
11: 86,133,824 (GRCm39) |
T409A |
|
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kat2a |
A |
G |
11: 100,596,197 (GRCm39) |
V787A |
probably benign |
Het |
| Klhl32 |
A |
G |
4: 24,629,273 (GRCm39) |
V465A |
probably benign |
Het |
| Kmt2a |
C |
A |
9: 44,733,453 (GRCm39) |
R2288L |
unknown |
Het |
| Megf6 |
G |
A |
4: 154,333,910 (GRCm39) |
G213S |
probably damaging |
Het |
| Mt2 |
T |
A |
8: 94,899,999 (GRCm39) |
C44S |
probably damaging |
Het |
| Nfe2l1 |
A |
G |
11: 96,710,159 (GRCm39) |
V690A |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,894,495 (GRCm39) |
H6670R |
|
Het |
| Or4c111 |
A |
C |
2: 88,843,517 (GRCm39) |
I297S |
possibly damaging |
Het |
| Orc4 |
T |
C |
2: 48,795,563 (GRCm39) |
T388A |
probably benign |
Het |
| Pcdhb17 |
C |
A |
18: 37,618,919 (GRCm39) |
N236K |
probably damaging |
Het |
| Phlpp1 |
T |
C |
1: 106,308,079 (GRCm39) |
S1119P |
probably damaging |
Het |
| Plppr3 |
T |
C |
10: 79,702,711 (GRCm39) |
D184G |
probably damaging |
Het |
| Rassf6 |
A |
T |
5: 90,765,572 (GRCm39) |
Y46* |
probably null |
Het |
| Rmdn2 |
T |
A |
17: 79,989,096 (GRCm39) |
I405N |
possibly damaging |
Het |
| Rsbn1l |
A |
C |
5: 21,113,119 (GRCm39) |
S468A |
probably damaging |
Het |
| Rslcan18 |
T |
C |
13: 67,260,296 (GRCm39) |
K34E |
probably benign |
Het |
| Runx3 |
A |
G |
4: 134,898,441 (GRCm39) |
D204G |
probably damaging |
Het |
| Sbf2 |
A |
G |
7: 109,970,798 (GRCm39) |
I866T |
possibly damaging |
Het |
| Sgtb |
A |
C |
13: 104,247,681 (GRCm39) |
E28D |
probably benign |
Het |
| Slc38a8 |
T |
A |
8: 120,227,888 (GRCm39) |
K14M |
probably damaging |
Het |
| Spast |
T |
C |
17: 74,681,143 (GRCm39) |
V478A |
probably damaging |
Het |
| Stxbp5 |
T |
C |
10: 9,719,101 (GRCm39) |
T147A |
probably damaging |
Het |
| Tmem208 |
T |
C |
8: 106,055,027 (GRCm39) |
F79S |
probably damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,501,052 (GRCm39) |
I250V |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,261,128 (GRCm39) |
T1628A |
probably benign |
Het |
| Vmn2r14 |
G |
T |
5: 109,367,962 (GRCm39) |
N343K |
probably benign |
Het |
| Xrcc6 |
T |
A |
15: 81,913,328 (GRCm39) |
Y320* |
probably null |
Het |
| Zbtb10 |
A |
C |
3: 9,343,355 (GRCm39) |
T627P |
probably benign |
Het |
| Zfp532 |
A |
T |
18: 65,756,624 (GRCm39) |
K186* |
probably null |
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 |
|
R6352:Hycc2
|
UTSW |
1 |
58,596,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCACAGTGCTCATACATG -3'
(R):5'- GTGGTCCTTTTATACGAAGTTACAC -3'
Sequencing Primer
(F):5'- TTTTCCAGCTAATAGGCTTAAAGC -3'
(R):5'- AAAAGTCTGTGTTGGTCGT -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation