Incidental Mutation 'R7854:Als2cl'
| ID |
607137 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Als2cl
|
| Ensembl Gene |
ENSMUSG00000044037 |
| Gene Name |
ALS2 C-terminal like |
| Synonyms |
D930044G19Rik, mRn.49018 |
| MMRRC Submission |
045907-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R7854 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
110709203-110729598 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to G
at 110727564 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 953
(*953W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081989
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084926]
[ENSMUST00000130386]
[ENSMUST00000155014]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000084926
AA Change: *953W
|
| SMART Domains |
Protein: ENSMUSP00000081989
Gene: ENSMUSG00000044037
AA Change: *953W
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1by1a_
|
8 |
215 |
2e-3 |
SMART |
|
Blast:PH
|
220 |
318 |
8e-7 |
BLAST |
|
MORN
|
356 |
377 |
1.83e-3 |
SMART |
|
Pfam:MORN
|
381 |
397 |
4.5e-4 |
PFAM |
|
MORN
|
407 |
428 |
1.2e1 |
SMART |
|
MORN
|
430 |
451 |
3.71e-1 |
SMART |
|
MORN
|
457 |
478 |
4.33e-1 |
SMART |
|
MORN
|
481 |
502 |
3.18e-1 |
SMART |
|
MORN
|
504 |
525 |
1.68e0 |
SMART |
|
MORN
|
527 |
549 |
3.63e1 |
SMART |
|
Pfam:VPS9
|
833 |
937 |
1.3e-20 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000130386
AA Change: *953W
|
| SMART Domains |
Protein: ENSMUSP00000123304
Gene: ENSMUSG00000044037
AA Change: *953W
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1by1a_
|
8 |
215 |
2e-3 |
SMART |
|
Blast:PH
|
220 |
318 |
8e-7 |
BLAST |
|
MORN
|
356 |
377 |
1.83e-3 |
SMART |
|
Pfam:MORN
|
381 |
397 |
4.5e-4 |
PFAM |
|
MORN
|
407 |
428 |
1.2e1 |
SMART |
|
MORN
|
430 |
451 |
3.71e-1 |
SMART |
|
MORN
|
457 |
478 |
4.33e-1 |
SMART |
|
MORN
|
481 |
502 |
3.18e-1 |
SMART |
|
MORN
|
504 |
525 |
1.68e0 |
SMART |
|
MORN
|
527 |
549 |
3.63e1 |
SMART |
|
Pfam:VPS9
|
833 |
937 |
1.3e-20 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000155014
AA Change: *953W
|
| SMART Domains |
Protein: ENSMUSP00000115718
Gene: ENSMUSG00000044037
AA Change: *953W
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1by1a_
|
8 |
215 |
2e-3 |
SMART |
|
Blast:PH
|
220 |
318 |
8e-7 |
BLAST |
|
MORN
|
356 |
377 |
1.83e-3 |
SMART |
|
Pfam:MORN
|
381 |
399 |
5.6e-4 |
PFAM |
|
MORN
|
407 |
428 |
1.2e1 |
SMART |
|
MORN
|
430 |
451 |
3.71e-1 |
SMART |
|
MORN
|
457 |
478 |
4.33e-1 |
SMART |
|
MORN
|
481 |
502 |
3.18e-1 |
SMART |
|
MORN
|
504 |
525 |
1.68e0 |
SMART |
|
MORN
|
527 |
549 |
3.63e1 |
SMART |
|
Pfam:VPS9
|
833 |
937 |
1.7e-22 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
A |
13: 81,741,207 (GRCm39) |
I86F |
probably damaging |
Het |
| Ap1g2 |
A |
G |
14: 55,343,390 (GRCm39) |
F66L |
probably damaging |
Het |
| Aqp12 |
T |
G |
1: 92,934,176 (GRCm39) |
C18G |
probably damaging |
Het |
| Atp9a |
T |
C |
2: 168,490,523 (GRCm39) |
I826V |
probably benign |
Het |
| C1ra |
A |
G |
6: 124,494,700 (GRCm39) |
Q321R |
probably benign |
Het |
| Calcoco1 |
T |
C |
15: 102,627,991 (GRCm39) |
I48V |
possibly damaging |
Het |
| Cep63 |
A |
T |
9: 102,480,197 (GRCm39) |
S269R |
probably damaging |
Het |
| Chchd7 |
T |
C |
4: 3,943,422 (GRCm39) |
V63A |
possibly damaging |
Het |
| Dennd5b |
T |
C |
6: 148,969,964 (GRCm39) |
D163G |
probably benign |
Het |
| Dpep2 |
T |
C |
8: 106,716,160 (GRCm39) |
D251G |
|
Het |
| Ercc6 |
T |
C |
14: 32,288,249 (GRCm39) |
L807P |
probably damaging |
Het |
| Fads6 |
A |
T |
11: 115,188,222 (GRCm39) |
D27E |
probably benign |
Het |
| Gfer |
C |
A |
17: 24,913,259 (GRCm39) |
D198Y |
probably damaging |
Het |
| Glce |
A |
T |
9: 61,977,773 (GRCm39) |
I37N |
probably benign |
Het |
| Gps2 |
T |
C |
11: 69,806,030 (GRCm39) |
L128P |
probably damaging |
Het |
| Gramd2b |
A |
G |
18: 56,611,926 (GRCm39) |
T130A |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,467,631 (GRCm39) |
Y2527N |
probably benign |
Het |
| Itpr1 |
A |
G |
6: 108,364,330 (GRCm39) |
D820G |
probably damaging |
Het |
| Itsn2 |
T |
C |
12: 4,751,276 (GRCm39) |
Y1289H |
probably damaging |
Het |
| Kcnh6 |
A |
T |
11: 105,908,172 (GRCm39) |
I263F |
probably damaging |
Het |
| Kcns2 |
A |
T |
15: 34,839,917 (GRCm39) |
M427L |
probably benign |
Het |
| Mptx1 |
A |
T |
1: 174,159,966 (GRCm39) |
M91L |
probably benign |
Het |
| Ms4a20 |
T |
A |
19: 11,089,741 (GRCm39) |
Y48F |
probably benign |
Het |
| Mtx2 |
A |
G |
2: 74,699,231 (GRCm39) |
Y128C |
probably damaging |
Het |
| Myh9 |
A |
T |
15: 77,675,953 (GRCm39) |
D244E |
probably benign |
Het |
| Ndufs2 |
T |
C |
1: 171,066,938 (GRCm39) |
D140G |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,981,538 (GRCm39) |
T1827A |
probably benign |
Het |
| Ogn |
A |
T |
13: 49,774,514 (GRCm39) |
Y219F |
possibly damaging |
Het |
| Or1ak2 |
A |
G |
2: 36,828,036 (GRCm39) |
R302G |
probably benign |
Het |
| Or51f2 |
C |
T |
7: 102,526,992 (GRCm39) |
R222* |
probably null |
Het |
| Parp4 |
A |
G |
14: 56,896,805 (GRCm39) |
E1943G |
unknown |
Het |
| Pex19 |
T |
G |
1: 171,954,417 (GRCm39) |
|
probably null |
Het |
| Prss53 |
T |
C |
7: 127,488,117 (GRCm39) |
N166S |
probably benign |
Het |
| Prx |
T |
A |
7: 27,216,066 (GRCm39) |
V328E |
probably damaging |
Het |
| Pstpip2 |
C |
T |
18: 77,962,004 (GRCm39) |
T258I |
probably benign |
Het |
| Rasgrp4 |
C |
T |
7: 28,850,035 (GRCm39) |
P58L |
unknown |
Het |
| Ros1 |
T |
C |
10: 52,004,563 (GRCm39) |
Y1019C |
probably damaging |
Het |
| Rptor |
T |
C |
11: 119,748,779 (GRCm39) |
M787T |
probably benign |
Het |
| Rsf1 |
GGCGGCGGCGGC |
GGCGGCGGCGGCGGCGGCGGCAGCGGCAGCGGCGGCGGC |
7: 97,229,131 (GRCm39) |
|
probably benign |
Het |
| Spef2 |
T |
A |
15: 9,596,730 (GRCm39) |
R1440W |
possibly damaging |
Het |
| Spta1 |
T |
A |
1: 174,046,396 (GRCm39) |
|
probably null |
Het |
| Sptbn4 |
T |
C |
7: 27,061,835 (GRCm39) |
I2335V |
probably benign |
Het |
| Srp68 |
G |
C |
11: 116,144,909 (GRCm39) |
|
probably null |
Het |
| Taar1 |
A |
G |
10: 23,796,680 (GRCm39) |
D126G |
probably benign |
Het |
| Tdrd9 |
A |
G |
12: 112,013,395 (GRCm39) |
T1210A |
probably benign |
Het |
| Tle5 |
A |
G |
10: 81,401,481 (GRCm39) |
H183R |
probably damaging |
Het |
| Tpcn1 |
A |
G |
5: 120,687,653 (GRCm39) |
F364L |
probably damaging |
Het |
| Trav2 |
A |
T |
14: 52,805,238 (GRCm39) |
K20* |
probably null |
Het |
| Trpa1 |
T |
C |
1: 14,951,918 (GRCm39) |
E927G |
probably benign |
Het |
| Tyk2 |
A |
T |
9: 21,026,776 (GRCm39) |
D637E |
probably benign |
Het |
| Vmn1r200 |
T |
C |
13: 22,580,009 (GRCm39) |
F271L |
probably benign |
Het |
| Vmn1r231 |
T |
A |
17: 21,110,894 (GRCm39) |
D7V |
probably damaging |
Het |
| Wwc2 |
G |
A |
8: 48,321,512 (GRCm39) |
T534I |
unknown |
Het |
|
| Other mutations in Als2cl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00424:Als2cl
|
APN |
9 |
110,715,607 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00743:Als2cl
|
APN |
9 |
110,718,227 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01504:Als2cl
|
APN |
9 |
110,718,351 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01991:Als2cl
|
APN |
9 |
110,721,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02073:Als2cl
|
APN |
9 |
110,723,407 (GRCm39) |
missense |
probably benign |
|
|
IGL02407:Als2cl
|
APN |
9 |
110,718,295 (GRCm39) |
nonsense |
probably null |
|
|
IGL03266:Als2cl
|
APN |
9 |
110,719,924 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0006:Als2cl
|
UTSW |
9 |
110,723,686 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0127:Als2cl
|
UTSW |
9 |
110,720,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0395:Als2cl
|
UTSW |
9 |
110,727,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0490:Als2cl
|
UTSW |
9 |
110,724,414 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0540:Als2cl
|
UTSW |
9 |
110,724,852 (GRCm39) |
nonsense |
probably null |
|
|
R0900:Als2cl
|
UTSW |
9 |
110,719,496 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1542:Als2cl
|
UTSW |
9 |
110,723,102 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1574:Als2cl
|
UTSW |
9 |
110,713,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1574:Als2cl
|
UTSW |
9 |
110,713,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2059:Als2cl
|
UTSW |
9 |
110,714,506 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2168:Als2cl
|
UTSW |
9 |
110,717,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2851:Als2cl
|
UTSW |
9 |
110,723,203 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2853:Als2cl
|
UTSW |
9 |
110,723,203 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2919:Als2cl
|
UTSW |
9 |
110,726,567 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3761:Als2cl
|
UTSW |
9 |
110,727,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3848:Als2cl
|
UTSW |
9 |
110,718,377 (GRCm39) |
splice site |
probably benign |
|
|
R3850:Als2cl
|
UTSW |
9 |
110,718,377 (GRCm39) |
splice site |
probably benign |
|
|
R4110:Als2cl
|
UTSW |
9 |
110,713,115 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4438:Als2cl
|
UTSW |
9 |
110,714,466 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4732:Als2cl
|
UTSW |
9 |
110,718,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4733:Als2cl
|
UTSW |
9 |
110,718,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5060:Als2cl
|
UTSW |
9 |
110,713,205 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5119:Als2cl
|
UTSW |
9 |
110,719,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5905:Als2cl
|
UTSW |
9 |
110,727,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5913:Als2cl
|
UTSW |
9 |
110,718,773 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5930:Als2cl
|
UTSW |
9 |
110,716,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6197:Als2cl
|
UTSW |
9 |
110,724,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6362:Als2cl
|
UTSW |
9 |
110,724,514 (GRCm39) |
splice site |
probably null |
|
|
R7052:Als2cl
|
UTSW |
9 |
110,727,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7081:Als2cl
|
UTSW |
9 |
110,723,650 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7472:Als2cl
|
UTSW |
9 |
110,727,174 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8120:Als2cl
|
UTSW |
9 |
110,714,460 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R8279:Als2cl
|
UTSW |
9 |
110,723,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8458:Als2cl
|
UTSW |
9 |
110,714,025 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8475:Als2cl
|
UTSW |
9 |
110,715,484 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8808:Als2cl
|
UTSW |
9 |
110,718,282 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8819:Als2cl
|
UTSW |
9 |
110,714,855 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8820:Als2cl
|
UTSW |
9 |
110,714,855 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9070:Als2cl
|
UTSW |
9 |
110,718,288 (GRCm39) |
missense |
probably benign |
|
|
R9149:Als2cl
|
UTSW |
9 |
110,718,191 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9257:Als2cl
|
UTSW |
9 |
110,723,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0011:Als2cl
|
UTSW |
9 |
110,714,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Als2cl
|
UTSW |
9 |
110,724,885 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Als2cl
|
UTSW |
9 |
110,717,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACATGGCTGACAGCTGTTCC -3'
(R):5'- GCCAAAGGATAGCCATGAGC -3'
Sequencing Primer
(F):5'- TGACAGCTGTTCCTAACCGG -3'
(R):5'- TGAGCTCTGGGGTCACACTG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation