Incidental Mutation 'PIT4508001:Cert1'
| ID |
556239 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cert1
|
| Ensembl Gene |
ENSMUSG00000021669 |
| Gene Name |
ceramide transporter 1 |
| Synonyms |
9230101K08Rik, ceramide transport protein, Col4a3bp, GPBP, Cert, 2810404O15Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
PIT4508001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
96679126-96776675 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96767284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 478
(F478S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076856
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077672]
[ENSMUST00000109444]
[ENSMUST00000179226]
|
| AlphaFold |
Q9EQG9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077672
AA Change: F478S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000076856
Gene: ENSMUSG00000021669
AA Change: F478S
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
24 |
119 |
4.52e-21 |
SMART |
|
low complexity region
|
138 |
150 |
N/A |
INTRINSIC |
|
coiled coil region
|
273 |
301 |
N/A |
INTRINSIC |
|
START
|
398 |
619 |
1.15e-19 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109444
AA Change: F452S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105070
Gene: ENSMUSG00000021669
AA Change: F452S
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
24 |
119 |
4.52e-21 |
SMART |
|
low complexity region
|
138 |
150 |
N/A |
INTRINSIC |
|
coiled coil region
|
273 |
301 |
N/A |
INTRINSIC |
|
START
|
372 |
593 |
1.15e-19 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179226
AA Change: F452S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136766
Gene: ENSMUSG00000021669
AA Change: F452S
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
24 |
119 |
4.52e-21 |
SMART |
|
low complexity region
|
138 |
150 |
N/A |
INTRINSIC |
|
coiled coil region
|
273 |
301 |
N/A |
INTRINSIC |
|
START
|
372 |
593 |
1.15e-19 |
SMART |
|
| Coding Region Coverage |
- 1x: 93.4%
- 3x: 90.7%
- 10x: 84.6%
- 20x: 71.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice display embryonic lethality during organogenesis with reduced embryo size, impaired heart function, abnormal heart morphology, abnormal mitochondrial morphology and physiology, abnormal endoplasmic reticulum morphology, and decreased cell proliferation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
T |
C |
16: 20,176,128 (GRCm39) |
T1228A |
probably damaging |
Het |
| Actg2 |
A |
T |
6: 83,489,989 (GRCm39) |
I370N |
possibly damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,557,137 (GRCm39) |
T330A |
possibly damaging |
Het |
| Atrip |
C |
T |
9: 108,903,057 (GRCm39) |
A6T |
possibly damaging |
Het |
| Bms1 |
G |
A |
6: 118,360,767 (GRCm39) |
R1234C |
probably benign |
Het |
| Cacnb2 |
A |
T |
2: 14,989,230 (GRCm39) |
T487S |
probably benign |
Het |
| Esco2 |
A |
T |
14: 66,068,914 (GRCm39) |
V132E |
probably damaging |
Het |
| Gjb5 |
A |
T |
4: 127,250,033 (GRCm39) |
L37Q |
probably damaging |
Het |
| Gm8020 |
T |
A |
14: 42,324,234 (GRCm39) |
Y24F |
|
Het |
| H2bc8 |
CTCGACCATCACGTC |
CTC |
13: 23,755,867 (GRCm39) |
|
probably benign |
Het |
| H2-Q6 |
T |
C |
17: 35,644,796 (GRCm39) |
L195P |
probably damaging |
Het |
| Hc |
T |
C |
2: 34,874,816 (GRCm39) |
T1602A |
probably damaging |
Het |
| Hcrtr2 |
A |
T |
9: 76,153,662 (GRCm39) |
Y243* |
probably null |
Het |
| Itga3 |
T |
C |
11: 94,946,719 (GRCm39) |
H730R |
probably benign |
Het |
| Kif1a |
A |
T |
1: 92,974,451 (GRCm39) |
L866Q |
probably damaging |
Het |
| Krt81 |
A |
T |
15: 101,360,606 (GRCm39) |
L127Q |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,719,223 (GRCm39) |
I2262T |
probably damaging |
Het |
| Mxd3 |
A |
T |
13: 55,473,707 (GRCm39) |
D170E |
probably benign |
Het |
| Myh2 |
A |
G |
11: 67,076,331 (GRCm39) |
M811V |
probably benign |
Het |
| Naa16 |
A |
T |
14: 79,606,527 (GRCm39) |
D335E |
probably benign |
Het |
| Nkd1 |
A |
G |
8: 89,249,028 (GRCm39) |
T58A |
probably benign |
Het |
| Ogfrl1 |
T |
A |
1: 23,409,351 (GRCm39) |
R292* |
probably null |
Het |
| Or52e2 |
T |
A |
7: 102,804,520 (GRCm39) |
M145L |
probably benign |
Het |
| Or5w13 |
G |
A |
2: 87,524,059 (GRCm39) |
H56Y |
probably damaging |
Het |
| Pom121l12 |
A |
G |
11: 14,549,689 (GRCm39) |
R132G |
possibly damaging |
Het |
| Prss46 |
A |
G |
9: 110,680,484 (GRCm39) |
K210E |
probably damaging |
Het |
| Scn8a |
T |
C |
15: 100,927,573 (GRCm39) |
Y1351H |
probably damaging |
Het |
| Shisa9 |
G |
A |
16: 12,085,344 (GRCm39) |
V318I |
probably benign |
Het |
| Slc41a2 |
T |
G |
10: 83,090,744 (GRCm39) |
H480P |
probably damaging |
Het |
| Slc45a1 |
C |
A |
4: 150,722,892 (GRCm39) |
A331S |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,784,764 (GRCm39) |
F885I |
unknown |
Het |
| Speer4f1 |
T |
C |
5: 17,685,412 (GRCm39) |
S236P |
unknown |
Het |
| Zfp326 |
A |
T |
5: 106,062,556 (GRCm39) |
Q475L |
probably benign |
Het |
| Zzef1 |
T |
G |
11: 72,786,002 (GRCm39) |
V2058G |
probably benign |
Het |
|
| Other mutations in Cert1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01133:Cert1
|
APN |
13 |
96,751,310 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02121:Cert1
|
APN |
13 |
96,735,982 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL02207:Cert1
|
APN |
13 |
96,761,300 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02285:Cert1
|
APN |
13 |
96,752,990 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02425:Cert1
|
APN |
13 |
96,746,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02749:Cert1
|
APN |
13 |
96,765,643 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL03288:Cert1
|
APN |
13 |
96,770,700 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0197:Cert1
|
UTSW |
13 |
96,685,795 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0317:Cert1
|
UTSW |
13 |
96,770,629 (GRCm39) |
nonsense |
probably null |
|
|
R2103:Cert1
|
UTSW |
13 |
96,771,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2104:Cert1
|
UTSW |
13 |
96,771,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4664:Cert1
|
UTSW |
13 |
96,735,965 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4782:Cert1
|
UTSW |
13 |
96,748,773 (GRCm39) |
missense |
probably benign |
|
|
R4824:Cert1
|
UTSW |
13 |
96,752,995 (GRCm39) |
missense |
probably benign |
|
|
R5060:Cert1
|
UTSW |
13 |
96,739,663 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5131:Cert1
|
UTSW |
13 |
96,751,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5385:Cert1
|
UTSW |
13 |
96,765,575 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5503:Cert1
|
UTSW |
13 |
96,679,747 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6034:Cert1
|
UTSW |
13 |
96,746,308 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6034:Cert1
|
UTSW |
13 |
96,746,308 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7193:Cert1
|
UTSW |
13 |
96,767,341 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7819:Cert1
|
UTSW |
13 |
96,765,575 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7827:Cert1
|
UTSW |
13 |
96,753,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8147:Cert1
|
UTSW |
13 |
96,679,736 (GRCm39) |
missense |
probably benign |
|
|
R8228:Cert1
|
UTSW |
13 |
96,679,723 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8486:Cert1
|
UTSW |
13 |
96,770,690 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9039:Cert1
|
UTSW |
13 |
96,679,717 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9141:Cert1
|
UTSW |
13 |
96,753,568 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9615:Cert1
|
UTSW |
13 |
96,767,334 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCAGACCTCACTGTTGCC -3'
(R):5'- CAGGTTGTAATCATCTTCTTTCTCA -3'
Sequencing Primer
(F):5'- AGACCTCACTGTTGCCATCTG -3'
(R):5'- ACATCTGCTACACATATGCTGGGG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation