Incidental Mutation 'R4433:Hycc1'
| ID |
328693 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hycc1
|
| Ensembl Gene |
ENSMUSG00000028995 |
| Gene Name |
hyccin PI4KA lipid kinase complex subunit 1 |
| Synonyms |
Fam126a, hyccin |
| MMRRC Submission |
041147-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.680)
|
| Stock # |
R4433 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
24120274-24235688 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 24184579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 218
(C218G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143784
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030849]
[ENSMUST00000101513]
[ENSMUST00000115109]
[ENSMUST00000197617]
|
| AlphaFold |
Q6P9N1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030849
AA Change: C300G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000030849
Gene: ENSMUSG00000028995
AA Change: C300G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hyccin
|
22 |
330 |
2.7e-133 |
PFAM |
|
low complexity region
|
353 |
373 |
N/A |
INTRINSIC |
|
low complexity region
|
415 |
434 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101513
AA Change: C300G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000099050
Gene: ENSMUSG00000028995
AA Change: C300G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hyccin
|
20 |
330 |
8e-141 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115109
AA Change: C300G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000110761
Gene: ENSMUSG00000028995
AA Change: C300G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hyccin
|
20 |
330 |
2.2e-141 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197617
AA Change: C218G
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000143784
Gene: ENSMUSG00000028995
AA Change: C218G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hyccin
|
1 |
248 |
1.7e-100 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198867
|
| Meta Mutation Damage Score |
0.0758 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
98% (59/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq, Oct 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
T |
16: 20,186,937 (GRCm39) |
|
probably null |
Het |
| Acsm2 |
A |
G |
7: 119,153,732 (GRCm39) |
H14R |
unknown |
Het |
| Adamtsl4 |
T |
C |
3: 95,589,069 (GRCm39) |
|
probably null |
Het |
| Ak5 |
A |
G |
3: 152,361,517 (GRCm39) |
I135T |
probably damaging |
Het |
| Alk |
G |
T |
17: 72,206,236 (GRCm39) |
S1038* |
probably null |
Het |
| Ank2 |
A |
T |
3: 126,741,455 (GRCm39) |
|
probably benign |
Het |
| Ap2m1 |
A |
T |
16: 20,362,134 (GRCm39) |
H414L |
possibly damaging |
Het |
| Atp13a5 |
A |
T |
16: 29,100,842 (GRCm39) |
M649K |
probably damaging |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Calhm6 |
T |
A |
10: 34,003,827 (GRCm39) |
T27S |
probably damaging |
Het |
| Cdc25b |
A |
G |
2: 131,033,618 (GRCm39) |
S186G |
probably benign |
Het |
| Ceacam16 |
A |
G |
7: 19,587,514 (GRCm39) |
V418A |
possibly damaging |
Het |
| Cntnap3 |
A |
C |
13: 64,926,667 (GRCm39) |
S568A |
possibly damaging |
Het |
| Col24a1 |
G |
T |
3: 145,020,144 (GRCm39) |
V172F |
possibly damaging |
Het |
| Dynlt4 |
C |
T |
4: 116,985,320 (GRCm39) |
R48C |
probably damaging |
Het |
| Eef2 |
CCC |
CCCC |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
| Esp36 |
T |
A |
17: 38,729,847 (GRCm39) |
T15S |
unknown |
Het |
| Fat2 |
A |
T |
11: 55,200,466 (GRCm39) |
H869Q |
possibly damaging |
Het |
| Fat3 |
A |
G |
9: 15,942,448 (GRCm39) |
V1308A |
probably damaging |
Het |
| Gimap3 |
T |
C |
6: 48,742,880 (GRCm39) |
T17A |
possibly damaging |
Het |
| Hnrnpr |
A |
G |
4: 136,044,459 (GRCm39) |
K13R |
probably benign |
Het |
| Kdr |
A |
G |
5: 76,104,585 (GRCm39) |
M1133T |
possibly damaging |
Het |
| Mgarp |
A |
G |
3: 51,303,681 (GRCm39) |
|
probably benign |
Het |
| Neto2 |
G |
A |
8: 86,367,712 (GRCm39) |
T337I |
probably damaging |
Het |
| Nfib |
C |
T |
4: 82,416,672 (GRCm39) |
R137Q |
probably damaging |
Het |
| Nherf4 |
T |
C |
9: 44,159,285 (GRCm39) |
*499W |
probably null |
Het |
| Nr3c2 |
A |
G |
8: 77,944,096 (GRCm39) |
E890G |
probably damaging |
Het |
| Nsun4 |
A |
G |
4: 115,897,327 (GRCm39) |
V228A |
possibly damaging |
Het |
| Nt5c1a |
T |
A |
4: 123,109,689 (GRCm39) |
S263T |
probably benign |
Het |
| Ntm |
A |
T |
9: 28,923,516 (GRCm39) |
Y45* |
probably null |
Het |
| Nts |
A |
G |
10: 102,320,888 (GRCm39) |
V67A |
probably benign |
Het |
| Or1e19 |
A |
T |
11: 73,316,537 (GRCm39) |
S91T |
possibly damaging |
Het |
| Or1e25 |
A |
G |
11: 73,493,712 (GRCm39) |
Y102C |
probably damaging |
Het |
| Or4g7 |
T |
A |
2: 111,309,757 (GRCm39) |
C209* |
probably null |
Het |
| Or51ag1 |
T |
A |
7: 103,155,346 (GRCm39) |
K269M |
probably benign |
Het |
| Ostm1 |
C |
A |
10: 42,555,119 (GRCm39) |
A47E |
probably benign |
Het |
| Otol1 |
G |
A |
3: 69,925,881 (GRCm39) |
V19M |
probably benign |
Het |
| Pcdhb15 |
A |
G |
18: 37,608,565 (GRCm39) |
N599S |
probably damaging |
Het |
| Pcdhgb1 |
T |
C |
18: 37,814,304 (GRCm39) |
I265T |
probably damaging |
Het |
| Pex14 |
T |
C |
4: 149,045,967 (GRCm39) |
E321G |
possibly damaging |
Het |
| Phactr3 |
C |
A |
2: 177,924,925 (GRCm39) |
R251S |
probably damaging |
Het |
| Pkdcc |
C |
T |
17: 83,528,570 (GRCm39) |
T313M |
probably benign |
Het |
| Plce1 |
A |
T |
19: 38,755,745 (GRCm39) |
E1911V |
probably damaging |
Het |
| Ptprv |
G |
T |
1: 135,042,308 (GRCm39) |
|
noncoding transcript |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rhob |
A |
G |
12: 8,549,533 (GRCm39) |
Y34H |
possibly damaging |
Het |
| Slc27a3 |
G |
A |
3: 90,294,647 (GRCm39) |
T408M |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,419,829 (GRCm39) |
I1000F |
possibly damaging |
Het |
| Tcf7 |
G |
T |
11: 52,152,442 (GRCm39) |
P36T |
probably benign |
Het |
| Tcf7l1 |
C |
G |
6: 72,765,752 (GRCm39) |
E62Q |
probably damaging |
Het |
| Tll2 |
A |
G |
19: 41,109,787 (GRCm39) |
S326P |
probably benign |
Het |
| Tubgcp4 |
A |
G |
2: 121,014,954 (GRCm39) |
N288S |
probably benign |
Het |
| Zfhx3 |
G |
A |
8: 109,682,269 (GRCm39) |
R3236H |
unknown |
Het |
| Zfp764l1 |
T |
G |
7: 126,992,174 (GRCm39) |
Q87P |
possibly damaging |
Het |
| Zgrf1 |
A |
G |
3: 127,355,727 (GRCm39) |
T318A |
probably benign |
Het |
|
| Other mutations in Hycc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00501:Hycc1
|
APN |
5 |
24,190,843 (GRCm39) |
splice site |
probably benign |
|
|
IGL03365:Hycc1
|
APN |
5 |
24,188,158 (GRCm39) |
missense |
probably benign |
0.30 |
|
Dropsy
|
UTSW |
5 |
24,204,956 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0070:Hycc1
|
UTSW |
5 |
24,169,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0070:Hycc1
|
UTSW |
5 |
24,169,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0616:Hycc1
|
UTSW |
5 |
24,191,770 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0645:Hycc1
|
UTSW |
5 |
24,184,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1364:Hycc1
|
UTSW |
5 |
24,170,351 (GRCm39) |
missense |
probably benign |
|
|
R1462:Hycc1
|
UTSW |
5 |
24,190,730 (GRCm39) |
splice site |
probably benign |
|
|
R1544:Hycc1
|
UTSW |
5 |
24,170,139 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1670:Hycc1
|
UTSW |
5 |
24,204,989 (GRCm39) |
start codon destroyed |
possibly damaging |
0.95 |
|
R1796:Hycc1
|
UTSW |
5 |
24,191,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4523:Hycc1
|
UTSW |
5 |
24,170,120 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5220:Hycc1
|
UTSW |
5 |
24,170,220 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5453:Hycc1
|
UTSW |
5 |
24,192,877 (GRCm39) |
splice site |
probably null |
|
|
R5694:Hycc1
|
UTSW |
5 |
24,196,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5703:Hycc1
|
UTSW |
5 |
24,185,577 (GRCm39) |
splice site |
probably null |
|
|
R6144:Hycc1
|
UTSW |
5 |
24,171,367 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R6547:Hycc1
|
UTSW |
5 |
24,170,098 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6579:Hycc1
|
UTSW |
5 |
24,171,381 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6906:Hycc1
|
UTSW |
5 |
24,204,956 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6924:Hycc1
|
UTSW |
5 |
24,191,133 (GRCm39) |
splice site |
probably null |
|
|
R6959:Hycc1
|
UTSW |
5 |
24,196,754 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7068:Hycc1
|
UTSW |
5 |
24,169,793 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7699:Hycc1
|
UTSW |
5 |
24,120,494 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8748:Hycc1
|
UTSW |
5 |
24,170,320 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8785:Hycc1
|
UTSW |
5 |
24,169,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8958:Hycc1
|
UTSW |
5 |
24,169,934 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9053:Hycc1
|
UTSW |
5 |
24,184,579 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9623:Hycc1
|
UTSW |
5 |
24,170,255 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9751:Hycc1
|
UTSW |
5 |
24,196,748 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9760:Hycc1
|
UTSW |
5 |
24,184,572 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTTACAGGGTCTACCACC -3'
(R):5'- ATAAGCATCTGTCTGGCTCTC -3'
Sequencing Primer
(F):5'- GGTCTACCACCACAGCTGCAG -3'
(R):5'- CCTATTTAGGAGGGTTAGGTATCATC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation