Incidental Mutation 'R5441:Cers5'
| ID |
486830 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cers5
|
| Ensembl Gene |
ENSMUSG00000023021 |
| Gene Name |
ceramide synthase 5 |
| Synonyms |
2310081H14Rik, CerS5, Lass5, Trh4 |
| MMRRC Submission |
043006-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5441 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
99633473-99670396 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 99649119 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 50
(K50*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134988
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023762]
[ENSMUST00000109035]
[ENSMUST00000175876]
[ENSMUST00000176248]
[ENSMUST00000176627]
|
| AlphaFold |
Q9D6K9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023762
AA Change: K101*
|
| SMART Domains |
Protein: ENSMUSP00000023762
Gene: ENSMUSG00000023021
AA Change: K101*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
23 |
N/A |
INTRINSIC |
|
Blast:TLC
|
24 |
66 |
9e-17 |
BLAST |
|
HOX
|
78 |
140 |
5.6e-2 |
SMART |
|
TLC
|
139 |
340 |
4.35e-76 |
SMART |
|
low complexity region
|
343 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
382 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000109035
AA Change: K101*
|
| SMART Domains |
Protein: ENSMUSP00000104663
Gene: ENSMUSG00000023021
AA Change: K101*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
23 |
N/A |
INTRINSIC |
|
Blast:TLC
|
24 |
66 |
6e-17 |
BLAST |
|
HOX
|
78 |
140 |
5.6e-2 |
SMART |
|
TLC
|
139 |
340 |
4.35e-76 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000175876
AA Change: K52*
|
| SMART Domains |
Protein: ENSMUSP00000134845
Gene: ENSMUSG00000023021
AA Change: K52*
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
29 |
91 |
5.6e-2 |
SMART |
|
TLC
|
90 |
241 |
1.29e-37 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176248
AA Change: K101*
|
| SMART Domains |
Protein: ENSMUSP00000135074
Gene: ENSMUSG00000023021
AA Change: K101*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
23 |
N/A |
INTRINSIC |
|
Blast:TLC
|
24 |
66 |
9e-18 |
BLAST |
|
HOX
|
78 |
140 |
2.8e-4 |
SMART |
|
TLC
|
139 |
251 |
1.7e-5 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176627
AA Change: K50*
|
| SMART Domains |
Protein: ENSMUSP00000134988
Gene: ENSMUSG00000023021
AA Change: K50*
| Domain | Start | End | E-Value | Type |
|---|
|
HOX
|
27 |
89 |
5.6e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176970
|
| SMART Domains |
Protein: ENSMUSP00000135723
Gene: ENSMUSG00000023021
| Domain | Start | End | E-Value | Type |
|---|
|
TLC
|
1 |
153 |
3.49e-25 |
SMART |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
98% (56/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the TLC (TRAM, LAG1 and CLN8 homology domains) family of proteins. The encoded protein functions in the synthesis of ceramide, a lipid molecule that is involved in a several cellular signaling pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,334,215 (GRCm39) |
Y1096H |
probably damaging |
Het |
| Aspa |
A |
T |
11: 73,196,420 (GRCm39) |
F261I |
probably damaging |
Het |
| Atm |
C |
A |
9: 53,427,767 (GRCm39) |
G448* |
probably null |
Het |
| Atmin |
T |
A |
8: 117,684,696 (GRCm39) |
D785E |
probably damaging |
Het |
| Car1 |
G |
C |
3: 14,841,364 (GRCm39) |
R90G |
probably damaging |
Het |
| Cdh11 |
T |
C |
8: 103,374,178 (GRCm39) |
D520G |
probably benign |
Het |
| Chad |
A |
T |
11: 94,459,118 (GRCm39) |
D340V |
probably benign |
Het |
| Cspg5 |
T |
C |
9: 110,075,711 (GRCm39) |
I68T |
probably benign |
Het |
| Fcgbpl1 |
C |
T |
7: 27,856,339 (GRCm39) |
T2042M |
probably damaging |
Het |
| Fcrla |
T |
A |
1: 170,752,991 (GRCm39) |
|
probably benign |
Het |
| Fer1l4 |
T |
A |
2: 155,865,177 (GRCm39) |
D1608V |
probably benign |
Het |
| Fzd5 |
T |
A |
1: 64,774,576 (GRCm39) |
Q395L |
probably benign |
Het |
| Gm7664 |
T |
A |
13: 62,676,464 (GRCm39) |
|
probably benign |
Het |
| Hk3 |
T |
C |
13: 55,162,869 (GRCm39) |
E2G |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,296,428 (GRCm39) |
E2677K |
possibly damaging |
Het |
| Hydin |
T |
C |
8: 111,291,741 (GRCm39) |
L3411P |
possibly damaging |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Lysmd2 |
C |
T |
9: 75,533,254 (GRCm39) |
H70Y |
possibly damaging |
Het |
| Msi2 |
A |
G |
11: 88,370,818 (GRCm39) |
|
probably benign |
Het |
| Msi2 |
G |
A |
11: 88,608,921 (GRCm39) |
|
probably benign |
Het |
| Napsa |
T |
A |
7: 44,230,817 (GRCm39) |
|
probably benign |
Het |
| Nlrp4a |
T |
A |
7: 26,153,578 (GRCm39) |
L710M |
probably damaging |
Het |
| Or10g1 |
T |
A |
14: 52,647,414 (GRCm39) |
K305M |
probably benign |
Het |
| Or12d13 |
T |
C |
17: 37,647,159 (GRCm39) |
|
probably null |
Het |
| Or5m13 |
T |
A |
2: 85,748,934 (GRCm39) |
F222I |
probably benign |
Het |
| Or6ae1 |
T |
C |
7: 139,742,564 (GRCm39) |
T100A |
probably benign |
Het |
| Or9a2 |
C |
T |
6: 41,748,782 (GRCm39) |
M150I |
probably benign |
Het |
| Plbd2 |
T |
A |
5: 120,637,147 (GRCm39) |
Y105F |
probably benign |
Het |
| Plppr5 |
A |
T |
3: 117,456,120 (GRCm39) |
I214F |
possibly damaging |
Het |
| Pramel34 |
A |
T |
5: 93,784,456 (GRCm39) |
M139K |
possibly damaging |
Het |
| Ptcd3 |
A |
G |
6: 71,858,505 (GRCm39) |
V655A |
possibly damaging |
Het |
| Ptpn14 |
T |
C |
1: 189,530,767 (GRCm39) |
L78P |
probably damaging |
Het |
| Ralgapa1 |
A |
C |
12: 55,766,408 (GRCm39) |
D1295E |
probably damaging |
Het |
| Rnf213 |
G |
A |
11: 119,299,846 (GRCm39) |
D192N |
probably damaging |
Het |
| Ropn1 |
A |
G |
16: 34,487,167 (GRCm39) |
I34M |
probably damaging |
Het |
| Rpe65 |
G |
T |
3: 159,310,038 (GRCm39) |
G104C |
probably damaging |
Het |
| Scgb2b27 |
T |
C |
7: 33,712,582 (GRCm39) |
|
probably benign |
Het |
| Sh3bgr |
T |
C |
16: 96,007,117 (GRCm39) |
I29T |
possibly damaging |
Het |
| Smg1 |
T |
C |
7: 117,794,304 (GRCm39) |
|
probably benign |
Het |
| Stim2 |
T |
A |
5: 54,232,712 (GRCm39) |
C68* |
probably null |
Het |
| Syne2 |
G |
A |
12: 76,035,917 (GRCm39) |
V3736I |
possibly damaging |
Het |
| Tbx19 |
T |
C |
1: 164,981,249 (GRCm39) |
N82D |
probably damaging |
Het |
| Tdp1 |
T |
A |
12: 99,876,544 (GRCm39) |
V353D |
probably damaging |
Het |
| Tg |
T |
A |
15: 66,568,369 (GRCm39) |
I1352K |
possibly damaging |
Het |
| Thsd4 |
T |
C |
9: 59,887,066 (GRCm39) |
T919A |
probably damaging |
Het |
| Tmprss11f |
A |
T |
5: 86,676,062 (GRCm39) |
M373K |
probably damaging |
Het |
| Tmprss15 |
T |
A |
16: 78,868,335 (GRCm39) |
|
probably null |
Het |
| Tpd52 |
A |
T |
3: 9,068,466 (GRCm39) |
Y16* |
probably null |
Het |
| Ube2o |
G |
A |
11: 116,435,268 (GRCm39) |
R507C |
probably damaging |
Het |
| Unc93b1 |
T |
C |
19: 3,993,703 (GRCm39) |
F382L |
probably benign |
Het |
| Vav2 |
A |
T |
2: 27,160,122 (GRCm39) |
|
probably benign |
Het |
| Vmn1r207 |
T |
C |
13: 22,910,686 (GRCm39) |
|
noncoding transcript |
Het |
| Zan |
T |
A |
5: 137,435,013 (GRCm39) |
I2127F |
unknown |
Het |
| Zfp748 |
C |
A |
13: 67,688,737 (GRCm39) |
C841F |
probably damaging |
Het |
| Zic4 |
C |
A |
9: 91,266,253 (GRCm39) |
P299Q |
probably damaging |
Het |
|
| Other mutations in Cers5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01290:Cers5
|
APN |
15 |
99,637,536 (GRCm39) |
nonsense |
probably null |
|
|
coleman
|
UTSW |
15 |
99,649,119 (GRCm39) |
nonsense |
probably null |
|
|
R0178:Cers5
|
UTSW |
15 |
99,644,905 (GRCm39) |
splice site |
probably benign |
|
|
R0483:Cers5
|
UTSW |
15 |
99,643,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0589:Cers5
|
UTSW |
15 |
99,638,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1433:Cers5
|
UTSW |
15 |
99,643,812 (GRCm39) |
nonsense |
probably null |
|
|
R1757:Cers5
|
UTSW |
15 |
99,634,212 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2520:Cers5
|
UTSW |
15 |
99,634,262 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3008:Cers5
|
UTSW |
15 |
99,670,598 (GRCm39) |
unclassified |
probably benign |
|
|
R3010:Cers5
|
UTSW |
15 |
99,670,598 (GRCm39) |
unclassified |
probably benign |
|
|
R3011:Cers5
|
UTSW |
15 |
99,670,598 (GRCm39) |
unclassified |
probably benign |
|
|
R4379:Cers5
|
UTSW |
15 |
99,649,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4732:Cers5
|
UTSW |
15 |
99,639,518 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4733:Cers5
|
UTSW |
15 |
99,639,518 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4911:Cers5
|
UTSW |
15 |
99,644,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6089:Cers5
|
UTSW |
15 |
99,638,883 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6161:Cers5
|
UTSW |
15 |
99,636,544 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6247:Cers5
|
UTSW |
15 |
99,643,805 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6300:Cers5
|
UTSW |
15 |
99,670,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6312:Cers5
|
UTSW |
15 |
99,644,996 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6861:Cers5
|
UTSW |
15 |
99,670,244 (GRCm39) |
unclassified |
probably benign |
|
|
R7780:Cers5
|
UTSW |
15 |
99,637,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7800:Cers5
|
UTSW |
15 |
99,634,122 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7843:Cers5
|
UTSW |
15 |
99,670,212 (GRCm39) |
missense |
unknown |
|
|
R7995:Cers5
|
UTSW |
15 |
99,638,823 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8491:Cers5
|
UTSW |
15 |
99,638,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8789:Cers5
|
UTSW |
15 |
99,637,551 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9325:Cers5
|
UTSW |
15 |
99,637,338 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATGTGCCGCACCTATTAGTG -3'
(R):5'- ATAACGGGTTTCTGGTTCCTAG -3'
Sequencing Primer
(F):5'- AGTGCTACTCTCCATTAGTCCATTAG -3'
(R):5'- TCCCTCCATTAATATTCCAATCAGG -3'
|
| Posted On |
2017-08-18 |
Incidental Mutation