Incidental Mutation 'R6521:Serhl'
ID |
521314 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Serhl
|
Ensembl Gene |
ENSMUSG00000058586 |
Gene Name |
serine hydrolase-like |
Synonyms |
1110019M09Rik |
MMRRC Submission |
044647-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R6521 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
82984394-83000876 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to G
at 82985843 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128802
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078218]
[ENSMUST00000078218]
[ENSMUST00000078218]
[ENSMUST00000166427]
[ENSMUST00000167389]
[ENSMUST00000167862]
[ENSMUST00000167862]
[ENSMUST00000167862]
[ENSMUST00000168029]
[ENSMUST00000168029]
[ENSMUST00000168029]
|
AlphaFold |
Q9EPB5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000078218
|
SMART Domains |
Protein: ENSMUSP00000077345 Gene: ENSMUSG00000058586
Domain | Start | End | E-Value | Type |
Pfam:Abhydrolase_5
|
28 |
282 |
1.4e-10 |
PFAM |
Pfam:Abhydrolase_6
|
29 |
295 |
2.9e-28 |
PFAM |
Pfam:Abhydrolase_1
|
53 |
260 |
1.4e-15 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000078218
|
SMART Domains |
Protein: ENSMUSP00000077345 Gene: ENSMUSG00000058586
Domain | Start | End | E-Value | Type |
Pfam:Abhydrolase_5
|
28 |
282 |
1.4e-10 |
PFAM |
Pfam:Abhydrolase_6
|
29 |
295 |
2.9e-28 |
PFAM |
Pfam:Abhydrolase_1
|
53 |
260 |
1.4e-15 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000078218
|
SMART Domains |
Protein: ENSMUSP00000077345 Gene: ENSMUSG00000058586
Domain | Start | End | E-Value | Type |
Pfam:Abhydrolase_5
|
28 |
282 |
1.4e-10 |
PFAM |
Pfam:Abhydrolase_6
|
29 |
295 |
2.9e-28 |
PFAM |
Pfam:Abhydrolase_1
|
53 |
260 |
1.4e-15 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142265
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164817
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165371
|
Predicted Effect |
silent
Transcript: ENSMUST00000166427
|
SMART Domains |
Protein: ENSMUSP00000132686 Gene: ENSMUSG00000058586
Domain | Start | End | E-Value | Type |
Pfam:Hydrolase_4
|
33 |
194 |
7.4e-11 |
PFAM |
Pfam:Abhydrolase_1
|
37 |
299 |
4e-20 |
PFAM |
Pfam:Abhydrolase_5
|
38 |
292 |
4.4e-10 |
PFAM |
Pfam:Abhydrolase_6
|
39 |
305 |
6.1e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167389
|
SMART Domains |
Protein: ENSMUSP00000128251 Gene: ENSMUSG00000058586
Domain | Start | End | E-Value | Type |
Pfam:Abhydrolase_6
|
2 |
54 |
4.3e-8 |
PFAM |
Pfam:Abhydrolase_1
|
3 |
54 |
1e-7 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000167862
|
Predicted Effect |
probably null
Transcript: ENSMUST00000167862
|
Predicted Effect |
probably null
Transcript: ENSMUST00000167862
|
Predicted Effect |
probably null
Transcript: ENSMUST00000168029
|
SMART Domains |
Protein: ENSMUSP00000128802 Gene: ENSMUSG00000058586
Domain | Start | End | E-Value | Type |
Pfam:Abhydrolase_1
|
1 |
96 |
3.3e-15 |
PFAM |
Pfam:Abhydrolase_6
|
1 |
97 |
2.4e-16 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000168029
|
SMART Domains |
Protein: ENSMUSP00000128802 Gene: ENSMUSG00000058586
Domain | Start | End | E-Value | Type |
Pfam:Abhydrolase_1
|
1 |
96 |
3.3e-15 |
PFAM |
Pfam:Abhydrolase_6
|
1 |
97 |
2.4e-16 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000168029
|
SMART Domains |
Protein: ENSMUSP00000128802 Gene: ENSMUSG00000058586
Domain | Start | End | E-Value | Type |
Pfam:Abhydrolase_1
|
1 |
96 |
3.3e-15 |
PFAM |
Pfam:Abhydrolase_6
|
1 |
97 |
2.4e-16 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167750
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169814
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168123
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167635
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167645
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171488
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169702
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171212
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172101
|
Meta Mutation Damage Score |
0.9492 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.0%
|
Validation Efficiency |
100% (48/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
T |
A |
8: 111,769,968 (GRCm39) |
S356T |
probably benign |
Het |
Acsbg2 |
T |
C |
17: 57,168,565 (GRCm39) |
M185V |
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,581,771 (GRCm39) |
F4758I |
probably damaging |
Het |
Ank3 |
A |
G |
10: 69,828,596 (GRCm39) |
|
probably benign |
Het |
Ankfy1 |
G |
A |
11: 72,621,308 (GRCm39) |
R198Q |
possibly damaging |
Het |
Ano4 |
A |
G |
10: 88,819,640 (GRCm39) |
V537A |
probably damaging |
Het |
Catsper2 |
A |
G |
2: 121,237,288 (GRCm39) |
L204P |
probably damaging |
Het |
Cdh20 |
A |
C |
1: 104,869,859 (GRCm39) |
D193A |
probably damaging |
Het |
Ceacam5 |
T |
C |
7: 17,484,756 (GRCm39) |
|
probably null |
Het |
Celf4 |
T |
A |
18: 25,612,531 (GRCm39) |
|
probably null |
Het |
Cfap91 |
A |
G |
16: 38,127,121 (GRCm39) |
V545A |
probably benign |
Het |
Crebbp |
A |
T |
16: 3,936,992 (GRCm39) |
F754I |
probably damaging |
Het |
Cyfip2 |
A |
T |
11: 46,145,415 (GRCm39) |
I635N |
probably damaging |
Het |
Erbb4 |
T |
A |
1: 68,081,689 (GRCm39) |
D1131V |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
Hoxc8 |
G |
A |
15: 102,901,135 (GRCm39) |
V193M |
probably benign |
Het |
Klhdc3 |
A |
G |
17: 46,988,687 (GRCm39) |
V124A |
probably benign |
Het |
Klhl18 |
A |
G |
9: 110,257,703 (GRCm39) |
I509T |
possibly damaging |
Het |
Mdfic |
T |
A |
6: 15,729,027 (GRCm39) |
|
probably benign |
Het |
Mkln1 |
T |
A |
6: 31,467,479 (GRCm39) |
D64E |
probably damaging |
Het |
Mmd2 |
A |
G |
5: 142,560,585 (GRCm39) |
I112T |
probably damaging |
Het |
Mpl |
C |
T |
4: 118,312,314 (GRCm39) |
|
probably null |
Het |
Mtmr4 |
A |
G |
11: 87,504,353 (GRCm39) |
T1044A |
possibly damaging |
Het |
Muc5b |
C |
A |
7: 141,412,908 (GRCm39) |
Y1951* |
probably null |
Het |
Myo15a |
C |
T |
11: 60,393,195 (GRCm39) |
H2240Y |
probably damaging |
Het |
Nckap5 |
A |
T |
1: 126,309,909 (GRCm39) |
I74K |
probably damaging |
Het |
Nfxl1 |
A |
T |
5: 72,697,651 (GRCm39) |
|
probably null |
Het |
Or11j4 |
T |
C |
14: 50,631,005 (GRCm39) |
V264A |
possibly damaging |
Het |
Or2ah1 |
A |
T |
2: 85,653,794 (GRCm39) |
I160F |
probably benign |
Het |
Or4c11c |
A |
G |
2: 88,661,700 (GRCm39) |
I80V |
probably benign |
Het |
Or8d2 |
C |
T |
9: 38,759,893 (GRCm39) |
T161I |
probably benign |
Het |
Piezo2 |
T |
C |
18: 63,154,399 (GRCm39) |
Y2460C |
probably damaging |
Het |
Pigx |
A |
G |
16: 31,906,129 (GRCm39) |
L64P |
probably damaging |
Het |
Prss1 |
C |
T |
6: 41,440,615 (GRCm39) |
T230I |
probably damaging |
Het |
Ptma |
A |
G |
1: 86,455,569 (GRCm39) |
|
probably null |
Het |
Rab39 |
T |
C |
9: 53,617,331 (GRCm39) |
T29A |
probably benign |
Het |
Rem2 |
C |
T |
14: 54,715,144 (GRCm39) |
A107V |
possibly damaging |
Het |
Senp1 |
A |
G |
15: 97,946,152 (GRCm39) |
V531A |
probably damaging |
Het |
Sirpa |
T |
G |
2: 129,472,075 (GRCm39) |
Y164D |
probably damaging |
Het |
Slc12a3 |
T |
C |
8: 95,069,741 (GRCm39) |
I550T |
possibly damaging |
Het |
Slc22a14 |
T |
C |
9: 119,049,835 (GRCm39) |
|
probably null |
Het |
Slfn5 |
A |
G |
11: 82,851,241 (GRCm39) |
N513D |
probably damaging |
Het |
Sptan1 |
T |
C |
2: 29,910,467 (GRCm39) |
S1831P |
possibly damaging |
Het |
Swap70 |
T |
C |
7: 109,855,027 (GRCm39) |
L109P |
probably benign |
Het |
Tas2r119 |
G |
A |
15: 32,178,319 (GRCm39) |
C295Y |
probably damaging |
Het |
Tcaf3 |
T |
A |
6: 42,570,172 (GRCm39) |
I527L |
probably damaging |
Het |
Traj31 |
A |
G |
14: 54,425,387 (GRCm39) |
|
probably benign |
Het |
Unc5a |
T |
A |
13: 55,152,748 (GRCm39) |
D887E |
probably benign |
Het |
Zfp407 |
T |
A |
18: 84,450,536 (GRCm39) |
H1600L |
probably damaging |
Het |
|
Other mutations in Serhl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00330:Serhl
|
APN |
15 |
82,988,574 (GRCm39) |
missense |
probably benign |
0.15 |
IGL00425:Serhl
|
APN |
15 |
82,989,838 (GRCm39) |
missense |
possibly damaging |
0.79 |
slowcow
|
UTSW |
15 |
82,985,843 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1544:Serhl
|
UTSW |
15 |
82,989,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R2119:Serhl
|
UTSW |
15 |
82,999,776 (GRCm39) |
missense |
probably benign |
0.19 |
R2320:Serhl
|
UTSW |
15 |
82,986,073 (GRCm39) |
missense |
probably damaging |
0.99 |
R3236:Serhl
|
UTSW |
15 |
82,988,604 (GRCm39) |
missense |
probably damaging |
0.96 |
R5156:Serhl
|
UTSW |
15 |
82,986,895 (GRCm39) |
unclassified |
probably benign |
|
R5256:Serhl
|
UTSW |
15 |
82,986,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R5822:Serhl
|
UTSW |
15 |
83,000,528 (GRCm39) |
missense |
probably benign |
0.02 |
R5951:Serhl
|
UTSW |
15 |
82,987,237 (GRCm39) |
unclassified |
probably benign |
|
R6385:Serhl
|
UTSW |
15 |
82,985,823 (GRCm39) |
missense |
probably benign |
|
R7959:Serhl
|
UTSW |
15 |
82,986,073 (GRCm39) |
missense |
probably damaging |
0.99 |
R8754:Serhl
|
UTSW |
15 |
82,986,126 (GRCm39) |
missense |
probably benign |
0.01 |
R8956:Serhl
|
UTSW |
15 |
82,985,899 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9451:Serhl
|
UTSW |
15 |
82,987,167 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9748:Serhl
|
UTSW |
15 |
82,998,597 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGATCTTTCTCATCCAGGGG -3'
(R):5'- TCCATAGCCATGTAACAGAAGTC -3'
Sequencing Primer
(F):5'- GGGACCCAAGCTGTCTTTC -3'
(R):5'- CAGAAGTCTGCAGCAGGG -3'
|
Posted On |
2018-06-06 |