Incidental Mutation 'R7403:Secisbp2l'
| ID |
574322 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Secisbp2l
|
| Ensembl Gene |
ENSMUSG00000035093 |
| Gene Name |
SECIS binding protein 2-like |
| Synonyms |
3110001I20Rik |
| MMRRC Submission |
045485-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.769)
|
| Stock # |
R7403 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
125578906-125624790 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 125602199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 387
(Y387C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055772
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053699]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053699
AA Change: Y387C
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000055772
Gene: ENSMUSG00000035093
AA Change: Y387C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
555 |
568 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_L7Ae
|
700 |
802 |
7.6e-24 |
PFAM |
|
low complexity region
|
821 |
831 |
N/A |
INTRINSIC |
|
low complexity region
|
970 |
978 |
N/A |
INTRINSIC |
|
low complexity region
|
985 |
996 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000121529
Gene: ENSMUSG00000035093
AA Change: Y12C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
67 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
194 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_L7Ae
|
326 |
427 |
3.5e-24 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Appl2 |
G |
A |
10: 83,450,059 (GRCm39) |
A271V |
probably benign |
Het |
| Brpf3 |
C |
T |
17: 29,040,330 (GRCm39) |
T917I |
probably benign |
Het |
| Camta1 |
G |
A |
4: 151,537,752 (GRCm39) |
Q143* |
probably null |
Het |
| Cd3e |
C |
A |
9: 44,913,590 (GRCm39) |
E48D |
probably benign |
Het |
| Clca3b |
A |
G |
3: 144,529,259 (GRCm39) |
L805P |
probably benign |
Het |
| Crispld1 |
A |
G |
1: 17,817,820 (GRCm39) |
Y241C |
probably damaging |
Het |
| Ddx43 |
T |
G |
9: 78,321,133 (GRCm39) |
N380K |
probably damaging |
Het |
| Dtl |
A |
T |
1: 191,295,285 (GRCm39) |
V155E |
probably damaging |
Het |
| Eif1ad19 |
G |
T |
12: 87,740,314 (GRCm39) |
Q82K |
probably benign |
Het |
| Elp1 |
A |
T |
4: 56,778,994 (GRCm39) |
C608S |
probably damaging |
Het |
| Elp2 |
A |
G |
18: 24,752,542 (GRCm39) |
H365R |
probably damaging |
Het |
| Fam78a |
T |
C |
2: 31,959,627 (GRCm39) |
N161S |
probably damaging |
Het |
| Far2 |
T |
C |
6: 148,060,475 (GRCm39) |
I276T |
possibly damaging |
Het |
| Frem3 |
T |
C |
8: 81,342,774 (GRCm39) |
L1689P |
probably damaging |
Het |
| Gak |
T |
C |
5: 108,761,401 (GRCm39) |
K210R |
probably benign |
Het |
| Gna14 |
G |
T |
19: 16,576,445 (GRCm39) |
D151Y |
|
Het |
| Hdhd2 |
A |
G |
18: 77,042,736 (GRCm39) |
D55G |
probably benign |
Het |
| Hycc2 |
A |
T |
1: 58,587,861 (GRCm39) |
D117E |
possibly damaging |
Het |
| Ifna5 |
A |
G |
4: 88,754,110 (GRCm39) |
N117D |
probably benign |
Het |
| Il16 |
T |
A |
7: 83,319,343 (GRCm39) |
T383S |
probably damaging |
Het |
| Il36rn |
T |
C |
2: 24,171,214 (GRCm39) |
F101L |
probably damaging |
Het |
| Ino80d |
A |
G |
1: 63,101,378 (GRCm39) |
V416A |
possibly damaging |
Het |
| Ints6 |
T |
C |
14: 62,945,104 (GRCm39) |
R409G |
possibly damaging |
Het |
| Itgb5 |
G |
T |
16: 33,723,163 (GRCm39) |
|
probably null |
Het |
| Itprid1 |
T |
A |
6: 55,953,399 (GRCm39) |
L905* |
probably null |
Het |
| Kcnq3 |
T |
A |
15: 65,874,066 (GRCm39) |
R561W |
probably damaging |
Het |
| Lipo4 |
C |
T |
19: 33,480,679 (GRCm39) |
E230K |
possibly damaging |
Het |
| Lrrc7 |
A |
T |
3: 157,854,311 (GRCm39) |
L1299* |
probably null |
Het |
| Mcm3ap |
T |
C |
10: 76,318,657 (GRCm39) |
|
probably null |
Het |
| Mok |
A |
T |
12: 110,781,563 (GRCm39) |
|
probably null |
Het |
| Mylk2 |
T |
A |
2: 152,759,261 (GRCm39) |
V344E |
probably damaging |
Het |
| Oacyl |
T |
C |
18: 65,870,966 (GRCm39) |
V389A |
probably benign |
Het |
| Oplah |
T |
C |
15: 76,189,209 (GRCm39) |
D278G |
probably benign |
Het |
| Or1j8 |
T |
C |
2: 36,192,342 (GRCm39) |
F264L |
probably benign |
Het |
| Or8s5 |
T |
C |
15: 98,238,000 (GRCm39) |
Y290C |
probably damaging |
Het |
| Padi3 |
T |
C |
4: 140,527,430 (GRCm39) |
N124D |
probably benign |
Het |
| Parp3 |
T |
C |
9: 106,352,052 (GRCm39) |
S107G |
probably benign |
Het |
| Pcdhb18 |
G |
A |
18: 37,624,950 (GRCm39) |
G760D |
probably benign |
Het |
| Plekhh1 |
G |
A |
12: 79,087,351 (GRCm39) |
W13* |
probably null |
Het |
| Poglut3 |
T |
A |
9: 53,301,741 (GRCm39) |
V131E |
probably damaging |
Het |
| Pou2f1 |
C |
T |
1: 165,738,955 (GRCm39) |
A166T |
unknown |
Het |
| Ppp1r10 |
C |
T |
17: 36,240,326 (GRCm39) |
P539S |
probably benign |
Het |
| Prdm11 |
T |
C |
2: 92,817,036 (GRCm39) |
T310A |
probably benign |
Het |
| Rbm25 |
A |
G |
12: 83,722,908 (GRCm39) |
Y777C |
probably damaging |
Het |
| Relt |
A |
T |
7: 100,500,655 (GRCm39) |
C72S |
probably damaging |
Het |
| Rhag |
T |
A |
17: 41,145,549 (GRCm39) |
I334N |
probably damaging |
Het |
| Rhbdf2 |
A |
C |
11: 116,491,245 (GRCm39) |
L630R |
probably damaging |
Het |
| Rnps1 |
T |
C |
17: 24,644,061 (GRCm39) |
S274P |
unknown |
Het |
| Rtkn2 |
A |
G |
10: 67,841,466 (GRCm39) |
I205V |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,713,292 (GRCm39) |
V4690E |
probably benign |
Het |
| Sema3d |
A |
T |
5: 12,547,551 (GRCm39) |
I158F |
probably damaging |
Het |
| Slc17a1 |
A |
G |
13: 24,058,690 (GRCm39) |
N48S |
probably benign |
Het |
| Slc2a1 |
G |
A |
4: 118,989,752 (GRCm39) |
G130S |
probably damaging |
Het |
| Slc6a3 |
T |
C |
13: 73,710,546 (GRCm39) |
|
probably null |
Het |
| Snx27 |
A |
T |
3: 94,436,233 (GRCm39) |
S261T |
probably damaging |
Het |
| Spag17 |
A |
T |
3: 99,846,691 (GRCm39) |
I72F |
possibly damaging |
Het |
| Spink6 |
T |
G |
18: 44,204,564 (GRCm39) |
L10R |
unknown |
Het |
| Swt1 |
G |
A |
1: 151,264,444 (GRCm39) |
T690I |
probably benign |
Het |
| Syne2 |
G |
A |
12: 75,962,020 (GRCm39) |
E729K |
not run |
Het |
| Synj2 |
C |
T |
17: 6,088,005 (GRCm39) |
T1352M |
possibly damaging |
Het |
| Taar4 |
G |
A |
10: 23,836,957 (GRCm39) |
G189D |
probably damaging |
Het |
| Thsd4 |
T |
C |
9: 59,964,170 (GRCm39) |
N441D |
probably damaging |
Het |
| Tm9sf2 |
A |
G |
14: 122,378,640 (GRCm39) |
D248G |
probably benign |
Het |
| Tmem69 |
A |
T |
4: 116,410,664 (GRCm39) |
L102Q |
probably damaging |
Het |
| Tshr |
A |
G |
12: 91,464,548 (GRCm39) |
Y98C |
probably damaging |
Het |
| Tspan1 |
A |
G |
4: 116,020,219 (GRCm39) |
V230A |
probably benign |
Het |
| Upk3a |
T |
C |
15: 84,903,709 (GRCm39) |
V136A |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,365,924 (GRCm39) |
N2259K |
probably damaging |
Het |
| Usp24 |
A |
G |
4: 106,264,232 (GRCm39) |
D1721G |
possibly damaging |
Het |
| Vldlr |
T |
A |
19: 27,213,674 (GRCm39) |
C120* |
probably null |
Het |
| Vmn2r23 |
A |
T |
6: 123,681,538 (GRCm39) |
I149L |
probably benign |
Het |
| Vps8 |
A |
T |
16: 21,253,722 (GRCm39) |
E21V |
possibly damaging |
Het |
| Wdr35 |
A |
G |
12: 9,062,685 (GRCm39) |
I635V |
probably damaging |
Het |
| Zfp955a |
T |
C |
17: 33,462,720 (GRCm39) |
D58G |
probably benign |
Het |
| Zkscan5 |
A |
G |
5: 145,155,403 (GRCm39) |
Q358R |
probably benign |
Het |
|
| Other mutations in Secisbp2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00421:Secisbp2l
|
APN |
2 |
125,585,776 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00644:Secisbp2l
|
APN |
2 |
125,585,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01093:Secisbp2l
|
APN |
2 |
125,582,245 (GRCm39) |
missense |
probably benign |
|
|
IGL01621:Secisbp2l
|
APN |
2 |
125,615,131 (GRCm39) |
missense |
probably benign |
|
|
IGL01955:Secisbp2l
|
APN |
2 |
125,585,732 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02036:Secisbp2l
|
APN |
2 |
125,600,127 (GRCm39) |
missense |
probably benign |
|
|
IGL02045:Secisbp2l
|
APN |
2 |
125,617,498 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02182:Secisbp2l
|
APN |
2 |
125,589,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02408:Secisbp2l
|
APN |
2 |
125,582,789 (GRCm39) |
nonsense |
probably null |
|
|
IGL02455:Secisbp2l
|
APN |
2 |
125,615,398 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02953:Secisbp2l
|
APN |
2 |
125,602,194 (GRCm39) |
missense |
probably benign |
0.36 |
|
Rift
|
UTSW |
2 |
125,610,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Seismic
|
UTSW |
2 |
125,587,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0097:Secisbp2l
|
UTSW |
2 |
125,613,376 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0097:Secisbp2l
|
UTSW |
2 |
125,613,376 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1415:Secisbp2l
|
UTSW |
2 |
125,582,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1626:Secisbp2l
|
UTSW |
2 |
125,617,606 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1926:Secisbp2l
|
UTSW |
2 |
125,582,597 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1940:Secisbp2l
|
UTSW |
2 |
125,582,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1970:Secisbp2l
|
UTSW |
2 |
125,589,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2100:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2240:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2252:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2253:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2472:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2474:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2475:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2990:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2993:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3113:Secisbp2l
|
UTSW |
2 |
125,592,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3696:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3749:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3750:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3800:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3810:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3812:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3815:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3816:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3817:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3880:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4077:Secisbp2l
|
UTSW |
2 |
125,593,785 (GRCm39) |
splice site |
probably benign |
|
|
R4096:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4097:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4164:Secisbp2l
|
UTSW |
2 |
125,593,803 (GRCm39) |
intron |
probably benign |
|
|
R4332:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4418:Secisbp2l
|
UTSW |
2 |
125,594,835 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4598:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4600:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4602:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4603:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4678:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4679:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4684:Secisbp2l
|
UTSW |
2 |
125,587,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4741:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4749:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4934:Secisbp2l
|
UTSW |
2 |
125,582,409 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5245:Secisbp2l
|
UTSW |
2 |
125,589,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5521:Secisbp2l
|
UTSW |
2 |
125,594,897 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5547:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5630:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5631:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5632:Secisbp2l
|
UTSW |
2 |
125,582,657 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6039:Secisbp2l
|
UTSW |
2 |
125,615,136 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6039:Secisbp2l
|
UTSW |
2 |
125,615,136 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6378:Secisbp2l
|
UTSW |
2 |
125,610,245 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6616:Secisbp2l
|
UTSW |
2 |
125,610,146 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6938:Secisbp2l
|
UTSW |
2 |
125,592,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7287:Secisbp2l
|
UTSW |
2 |
125,582,289 (GRCm39) |
missense |
probably benign |
|
|
R7373:Secisbp2l
|
UTSW |
2 |
125,599,191 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7484:Secisbp2l
|
UTSW |
2 |
125,613,452 (GRCm39) |
nonsense |
probably null |
|
|
R7504:Secisbp2l
|
UTSW |
2 |
125,600,091 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7762:Secisbp2l
|
UTSW |
2 |
125,610,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7769:Secisbp2l
|
UTSW |
2 |
125,613,465 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R8018:Secisbp2l
|
UTSW |
2 |
125,587,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8487:Secisbp2l
|
UTSW |
2 |
125,617,502 (GRCm39) |
nonsense |
probably null |
|
|
R8784:Secisbp2l
|
UTSW |
2 |
125,602,263 (GRCm39) |
nonsense |
probably null |
|
|
R8810:Secisbp2l
|
UTSW |
2 |
125,617,596 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8872:Secisbp2l
|
UTSW |
2 |
125,594,892 (GRCm39) |
missense |
probably benign |
|
|
R9111:Secisbp2l
|
UTSW |
2 |
125,602,206 (GRCm39) |
missense |
probably benign |
|
|
R9154:Secisbp2l
|
UTSW |
2 |
125,617,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9155:Secisbp2l
|
UTSW |
2 |
125,617,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9589:Secisbp2l
|
UTSW |
2 |
125,589,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9589:Secisbp2l
|
UTSW |
2 |
125,589,425 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9592:Secisbp2l
|
UTSW |
2 |
125,582,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9602:Secisbp2l
|
UTSW |
2 |
125,609,356 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9620:Secisbp2l
|
UTSW |
2 |
125,589,394 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTAACCTGTTAACACAATCACAT -3'
(R):5'- GTTTCAGTGCAGCAGGTACT -3'
Sequencing Primer
(F):5'- ATGAGTACACTGTCACTGTTTCCAG -3'
(R):5'- TGGAAAATGATACTTTCTTTCTCAGG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation