Incidental Mutation 'R7031:Sel1l2'
ID |
546310 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sel1l2
|
Ensembl Gene |
ENSMUSG00000074764 |
Gene Name |
sel-1 suppressor of lin-12-like 2 (C. elegans) |
Synonyms |
LOC228684 |
MMRRC Submission |
045132-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.574)
|
Stock # |
R7031 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
140071775-140231626 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 140182043 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 31
(K31N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113800
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120133]
[ENSMUST00000122367]
|
AlphaFold |
Q3V172 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120133
AA Change: K31N
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000112724 Gene: ENSMUSG00000074764 AA Change: K31N
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
low complexity region
|
70 |
83 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000122367
AA Change: K31N
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000113800 Gene: ENSMUSG00000074764 AA Change: K31N
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
low complexity region
|
70 |
83 |
N/A |
INTRINSIC |
SEL1
|
107 |
142 |
1.99e2 |
SMART |
SEL1
|
143 |
178 |
3.3e1 |
SMART |
SEL1
|
179 |
214 |
5.7e-1 |
SMART |
SEL1
|
215 |
250 |
6.3e-3 |
SMART |
SEL1
|
297 |
333 |
6.59e-6 |
SMART |
SEL1
|
334 |
370 |
1.32e-5 |
SMART |
SEL1
|
371 |
406 |
4.55e-9 |
SMART |
SEL1
|
407 |
442 |
4.02e-10 |
SMART |
SEL1
|
443 |
478 |
2.72e-7 |
SMART |
Blast:SEL1
|
511 |
550 |
9e-13 |
BLAST |
SEL1
|
551 |
586 |
1.01e-6 |
SMART |
SEL1
|
588 |
623 |
4.55e-9 |
SMART |
transmembrane domain
|
661 |
683 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931414P19Rik |
T |
C |
14: 54,833,058 (GRCm39) |
N39S |
probably benign |
Het |
Abca13 |
C |
T |
11: 9,571,892 (GRCm39) |
R4818C |
probably damaging |
Het |
Acadsb |
A |
G |
7: 131,045,366 (GRCm39) |
I433V |
probably benign |
Het |
Acsl3 |
T |
A |
1: 78,666,000 (GRCm39) |
I142N |
probably benign |
Het |
Api5 |
G |
A |
2: 94,255,961 (GRCm39) |
T242M |
probably benign |
Het |
Brme1 |
C |
A |
8: 84,893,313 (GRCm39) |
P160Q |
possibly damaging |
Het |
Ccdc88c |
T |
C |
12: 100,911,323 (GRCm39) |
E37G |
probably damaging |
Het |
Cfap96 |
T |
C |
8: 46,421,140 (GRCm39) |
I128V |
probably benign |
Het |
Cntnap4 |
C |
A |
8: 113,584,874 (GRCm39) |
Q1104K |
probably benign |
Het |
Cry1 |
A |
G |
10: 84,984,526 (GRCm39) |
S183P |
probably benign |
Het |
Cuzd1 |
A |
T |
7: 130,910,580 (GRCm39) |
F572I |
probably benign |
Het |
Dcbld1 |
A |
T |
10: 52,166,985 (GRCm39) |
D104V |
probably damaging |
Het |
Dhh |
C |
T |
15: 98,791,907 (GRCm39) |
G367E |
possibly damaging |
Het |
Dhx15 |
T |
C |
5: 52,341,931 (GRCm39) |
D129G |
probably benign |
Het |
Drd3 |
T |
A |
16: 43,582,861 (GRCm39) |
V86E |
probably damaging |
Het |
Ebf1 |
A |
G |
11: 44,512,795 (GRCm39) |
T135A |
possibly damaging |
Het |
Epha5 |
T |
C |
5: 84,290,159 (GRCm39) |
I428V |
probably benign |
Het |
Epx |
T |
A |
11: 87,766,349 (GRCm39) |
|
probably benign |
Het |
Fam83d |
T |
A |
2: 158,627,227 (GRCm39) |
N305K |
probably benign |
Het |
Gchfr |
T |
A |
2: 119,000,236 (GRCm39) |
V39D |
probably benign |
Het |
Ggnbp2 |
A |
G |
11: 84,751,467 (GRCm39) |
L111P |
probably damaging |
Het |
Gnal |
G |
A |
18: 67,355,659 (GRCm39) |
G340D |
probably damaging |
Het |
Gpat2 |
A |
G |
2: 127,277,395 (GRCm39) |
E745G |
probably damaging |
Het |
Gpbp1l1 |
C |
T |
4: 116,450,045 (GRCm39) |
R438C |
probably damaging |
Het |
Hmgxb4 |
C |
T |
8: 75,756,200 (GRCm39) |
Q171* |
probably null |
Het |
Igkv4-91 |
G |
T |
6: 68,745,542 (GRCm39) |
R119S |
possibly damaging |
Het |
Ing2 |
T |
C |
8: 48,121,858 (GRCm39) |
D230G |
probably benign |
Het |
Itfg2 |
A |
G |
6: 128,393,017 (GRCm39) |
V82A |
probably damaging |
Het |
Klhl22 |
T |
C |
16: 17,594,890 (GRCm39) |
S340P |
probably damaging |
Het |
Lipm |
A |
T |
19: 34,093,871 (GRCm39) |
M263L |
probably benign |
Het |
Ly96 |
A |
T |
1: 16,758,787 (GRCm39) |
E19V |
possibly damaging |
Het |
Mark1 |
C |
T |
1: 184,644,829 (GRCm39) |
E376K |
possibly damaging |
Het |
Mlip |
T |
A |
9: 77,045,835 (GRCm39) |
M375L |
probably benign |
Het |
Mug1 |
A |
T |
6: 121,815,673 (GRCm39) |
N26Y |
probably benign |
Het |
Or2ad1 |
C |
T |
13: 21,327,170 (GRCm39) |
S19N |
probably benign |
Het |
Or55b3 |
T |
A |
7: 102,127,057 (GRCm39) |
T7S |
probably benign |
Het |
Or5m3 |
C |
T |
2: 85,838,939 (GRCm39) |
A273V |
probably benign |
Het |
Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
Rb1cc1 |
T |
C |
1: 6,308,690 (GRCm39) |
|
probably null |
Het |
Rgs4 |
T |
C |
1: 169,571,336 (GRCm39) |
T178A |
probably benign |
Het |
Serpinf1 |
T |
C |
11: 75,301,022 (GRCm39) |
R398G |
probably damaging |
Het |
Sgo2b |
C |
T |
8: 64,393,078 (GRCm39) |
E120K |
possibly damaging |
Het |
Stard9 |
T |
C |
2: 120,530,931 (GRCm39) |
F2396S |
possibly damaging |
Het |
Trgv6 |
G |
A |
13: 19,374,610 (GRCm39) |
E25K |
probably benign |
Het |
Trpc3 |
A |
C |
3: 36,675,459 (GRCm39) |
I893S |
probably benign |
Het |
Trpc4ap |
C |
A |
2: 155,534,135 (GRCm39) |
R31L |
unknown |
Het |
Vat1l |
A |
G |
8: 114,998,172 (GRCm39) |
R239G |
possibly damaging |
Het |
Vmn1r56 |
T |
A |
7: 5,199,261 (GRCm39) |
R119* |
probably null |
Het |
Vmn2r111 |
T |
C |
17: 22,790,226 (GRCm39) |
Y260C |
probably damaging |
Het |
Zfp664 |
A |
G |
5: 124,963,070 (GRCm39) |
T155A |
probably benign |
Het |
|
Other mutations in Sel1l2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00587:Sel1l2
|
APN |
2 |
140,085,864 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01782:Sel1l2
|
APN |
2 |
140,085,855 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02238:Sel1l2
|
APN |
2 |
140,089,859 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02506:Sel1l2
|
APN |
2 |
140,117,380 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02539:Sel1l2
|
APN |
2 |
140,072,778 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02999:Sel1l2
|
APN |
2 |
140,072,724 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03388:Sel1l2
|
APN |
2 |
140,105,284 (GRCm39) |
splice site |
probably benign |
|
IGL02988:Sel1l2
|
UTSW |
2 |
140,090,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R0386:Sel1l2
|
UTSW |
2 |
140,117,361 (GRCm39) |
missense |
probably benign |
0.11 |
R0426:Sel1l2
|
UTSW |
2 |
140,082,832 (GRCm39) |
nonsense |
probably null |
|
R0549:Sel1l2
|
UTSW |
2 |
140,107,802 (GRCm39) |
missense |
probably damaging |
0.99 |
R1404:Sel1l2
|
UTSW |
2 |
140,071,979 (GRCm39) |
splice site |
probably benign |
|
R1502:Sel1l2
|
UTSW |
2 |
140,231,515 (GRCm39) |
missense |
probably damaging |
0.99 |
R1746:Sel1l2
|
UTSW |
2 |
140,127,157 (GRCm39) |
missense |
probably damaging |
0.98 |
R2187:Sel1l2
|
UTSW |
2 |
140,072,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R2233:Sel1l2
|
UTSW |
2 |
140,086,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R2235:Sel1l2
|
UTSW |
2 |
140,086,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R3402:Sel1l2
|
UTSW |
2 |
140,082,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R4717:Sel1l2
|
UTSW |
2 |
140,071,943 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4724:Sel1l2
|
UTSW |
2 |
140,082,847 (GRCm39) |
missense |
probably damaging |
0.99 |
R4840:Sel1l2
|
UTSW |
2 |
140,105,390 (GRCm39) |
missense |
probably benign |
0.00 |
R4948:Sel1l2
|
UTSW |
2 |
140,086,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R6008:Sel1l2
|
UTSW |
2 |
140,086,025 (GRCm39) |
missense |
probably damaging |
1.00 |
R6058:Sel1l2
|
UTSW |
2 |
140,082,889 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6389:Sel1l2
|
UTSW |
2 |
140,087,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R7056:Sel1l2
|
UTSW |
2 |
140,087,334 (GRCm39) |
missense |
probably benign |
0.13 |
R7074:Sel1l2
|
UTSW |
2 |
140,105,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R7213:Sel1l2
|
UTSW |
2 |
140,086,055 (GRCm39) |
missense |
probably damaging |
1.00 |
R7348:Sel1l2
|
UTSW |
2 |
140,107,644 (GRCm39) |
missense |
probably benign |
|
R8030:Sel1l2
|
UTSW |
2 |
140,082,938 (GRCm39) |
missense |
probably damaging |
0.97 |
R8100:Sel1l2
|
UTSW |
2 |
140,117,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R8165:Sel1l2
|
UTSW |
2 |
140,104,626 (GRCm39) |
missense |
probably damaging |
1.00 |
R8201:Sel1l2
|
UTSW |
2 |
140,108,312 (GRCm39) |
missense |
probably damaging |
1.00 |
R8343:Sel1l2
|
UTSW |
2 |
140,072,753 (GRCm39) |
missense |
probably benign |
0.03 |
R8968:Sel1l2
|
UTSW |
2 |
140,127,209 (GRCm39) |
missense |
probably benign |
0.14 |
R9038:Sel1l2
|
UTSW |
2 |
140,117,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R9226:Sel1l2
|
UTSW |
2 |
140,097,222 (GRCm39) |
missense |
probably damaging |
1.00 |
X0019:Sel1l2
|
UTSW |
2 |
140,090,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTAAGGTGCCAGAGGACAC -3'
(R):5'- TCACTGTAGGGCTTACTTTAATACC -3'
Sequencing Primer
(F):5'- AGCCCAGGGAACAGTCTTCTC -3'
(R):5'- GCAAGCTCTAACTTTCTGAA -3'
|
Posted On |
2019-05-13 |