Incidental Mutation 'R6614:Sp140l2'
ID |
543537 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sp140l2
|
Ensembl Gene |
ENSMUSG00000052477 |
Gene Name |
Sp140 nuclear body protein like 2 |
Synonyms |
OTTMUSG00000029174, C130026I21Rik |
MMRRC Submission |
044737-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.415)
|
Stock # |
R6614 (G1)
|
Quality Score |
80.0075 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
85219007-85260602 bp(-) (GRCm39) |
Type of Mutation |
splice site (59775 bp from exon) |
DNA Base Change (assembly) |
A to C
at 85179781 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125215
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161267]
[ENSMUST00000162421]
|
AlphaFold |
Q8C898 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000161267
|
SMART Domains |
Protein: ENSMUSP00000124435 Gene: ENSMUSG00000052477
Domain | Start | End | E-Value | Type |
Pfam:Sp100
|
23 |
119 |
1.8e-37 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000162421
|
SMART Domains |
Protein: ENSMUSP00000125215 Gene: ENSMUSG00000052477
Domain | Start | End | E-Value | Type |
Pfam:Sp100
|
40 |
135 |
2.2e-39 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
Validation Efficiency |
98% (46/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810004N23Rik |
T |
A |
8: 125,587,986 (GRCm39) |
|
probably null |
Het |
Abca13 |
A |
T |
11: 9,244,371 (GRCm39) |
N2078I |
probably benign |
Het |
Abcc2 |
A |
G |
19: 43,807,800 (GRCm39) |
I814V |
probably benign |
Het |
Adamts4 |
A |
G |
1: 171,084,193 (GRCm39) |
R557G |
probably benign |
Het |
Bltp3a |
T |
A |
17: 28,095,899 (GRCm39) |
I70N |
probably benign |
Het |
Bysl |
A |
T |
17: 47,912,767 (GRCm39) |
L341Q |
probably damaging |
Het |
Csmd1 |
C |
T |
8: 17,266,803 (GRCm39) |
G41D |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 117,850,411 (GRCm39) |
D4221G |
possibly damaging |
Het |
Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
Dnajc21 |
A |
G |
15: 10,470,349 (GRCm39) |
|
probably null |
Het |
Elavl1 |
C |
A |
8: 4,339,818 (GRCm39) |
A255S |
probably damaging |
Het |
Filip1 |
C |
T |
9: 79,723,121 (GRCm39) |
G1166D |
probably damaging |
Het |
Gnptg |
T |
C |
17: 25,454,235 (GRCm39) |
Y184C |
probably damaging |
Het |
Ifit3b |
A |
T |
19: 34,588,919 (GRCm39) |
S32C |
probably benign |
Het |
Kcnh7 |
T |
G |
2: 62,607,940 (GRCm39) |
Y547S |
probably damaging |
Het |
Lima1 |
G |
A |
15: 99,681,461 (GRCm39) |
A243V |
probably damaging |
Het |
Mast3 |
T |
A |
8: 71,234,610 (GRCm39) |
I67F |
possibly damaging |
Het |
Ncor1 |
A |
C |
11: 62,221,645 (GRCm39) |
M1283R |
probably benign |
Het |
Ndufv1 |
G |
A |
19: 4,058,749 (GRCm39) |
T253I |
probably benign |
Het |
Neurog1 |
G |
T |
13: 56,399,637 (GRCm39) |
Q37K |
probably benign |
Het |
Nol4 |
T |
G |
18: 23,053,913 (GRCm39) |
K200Q |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,903,627 (GRCm39) |
H7599R |
probably benign |
Het |
Oog4 |
A |
G |
4: 143,164,445 (GRCm39) |
V362A |
possibly damaging |
Het |
Oosp1 |
T |
A |
19: 11,668,314 (GRCm39) |
D23V |
probably damaging |
Het |
Or11a4 |
T |
C |
17: 37,536,790 (GRCm39) |
V258A |
probably benign |
Het |
Or11g24 |
C |
T |
14: 50,662,546 (GRCm39) |
T190I |
probably benign |
Het |
Or4k1 |
T |
A |
14: 50,377,821 (GRCm39) |
I92F |
probably damaging |
Het |
Or4n4b |
T |
A |
14: 50,536,494 (GRCm39) |
I91L |
probably benign |
Het |
Or7a41 |
C |
A |
10: 78,870,925 (GRCm39) |
C98* |
probably null |
Het |
P2rx3 |
A |
G |
2: 84,865,543 (GRCm39) |
I34T |
probably damaging |
Het |
Pate7 |
A |
G |
9: 35,688,421 (GRCm39) |
W55R |
probably damaging |
Het |
Pla2g4a |
A |
T |
1: 149,717,986 (GRCm39) |
V621E |
probably benign |
Het |
Prpf39 |
T |
G |
12: 65,089,337 (GRCm39) |
V25G |
probably benign |
Het |
Psd |
T |
C |
19: 46,301,851 (GRCm39) |
K913E |
probably benign |
Het |
Ptx4 |
A |
T |
17: 25,341,676 (GRCm39) |
R50S |
possibly damaging |
Het |
Rex2 |
A |
T |
4: 147,137,018 (GRCm39) |
M16L |
probably benign |
Het |
Serac1 |
A |
T |
17: 6,095,937 (GRCm39) |
V604E |
probably damaging |
Het |
Spata31h1 |
T |
A |
10: 82,127,482 (GRCm39) |
N1843Y |
probably benign |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
Stxbp6 |
T |
A |
12: 44,908,058 (GRCm39) |
T187S |
probably benign |
Het |
Tg |
G |
A |
15: 66,607,108 (GRCm39) |
C215Y |
probably damaging |
Het |
Top2b |
A |
T |
14: 16,407,142 (GRCm38) |
K671* |
probably null |
Het |
Trmt1 |
G |
T |
8: 85,415,962 (GRCm39) |
V7L |
probably benign |
Het |
Ttn |
C |
T |
2: 76,615,174 (GRCm39) |
R15102H |
probably benign |
Het |
Unc79 |
A |
T |
12: 102,957,689 (GRCm39) |
I35F |
probably damaging |
Het |
|
Other mutations in Sp140l2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01866:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01876:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01880:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01883:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01886:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01888:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01893:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01898:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01906:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01908:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01909:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01916:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01918:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01920:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01923:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01928:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01933:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01945:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01949:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01951:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
IGL01952:Sp140l2
|
APN |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
PIT4131001:Sp140l2
|
UTSW |
1 |
85,223,395 (GRCm39) |
intron |
probably benign |
|
PIT4142001:Sp140l2
|
UTSW |
1 |
85,223,395 (GRCm39) |
intron |
probably benign |
|
R0067:Sp140l2
|
UTSW |
1 |
85,247,773 (GRCm39) |
missense |
probably benign |
0.00 |
R0367:Sp140l2
|
UTSW |
1 |
85,247,824 (GRCm39) |
start gained |
probably benign |
|
R0389:Sp140l2
|
UTSW |
1 |
85,247,773 (GRCm39) |
missense |
probably benign |
0.00 |
R1284:Sp140l2
|
UTSW |
1 |
85,247,776 (GRCm39) |
missense |
probably damaging |
0.98 |
R1620:Sp140l2
|
UTSW |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
R1622:Sp140l2
|
UTSW |
1 |
85,231,907 (GRCm39) |
intron |
probably benign |
|
R1671:Sp140l2
|
UTSW |
1 |
85,235,106 (GRCm39) |
critical splice donor site |
probably null |
|
R3115:Sp140l2
|
UTSW |
1 |
85,235,106 (GRCm39) |
intron |
probably benign |
|
R4120:Sp140l2
|
UTSW |
1 |
85,237,542 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4223:Sp140l2
|
UTSW |
1 |
85,090,278 (GRCm39) |
missense |
probably damaging |
0.98 |
R4947:Sp140l2
|
UTSW |
1 |
85,090,203 (GRCm39) |
missense |
probably damaging |
1.00 |
R4996:Sp140l2
|
UTSW |
1 |
85,224,815 (GRCm39) |
missense |
probably benign |
0.12 |
R5152:Sp140l2
|
UTSW |
1 |
85,239,581 (GRCm39) |
missense |
probably benign |
0.04 |
R7675:Sp140l2
|
UTSW |
1 |
85,224,736 (GRCm39) |
missense |
probably benign |
|
R7784:Sp140l2
|
UTSW |
1 |
85,190,195 (GRCm39) |
splice site |
probably null |
|
R7839:Sp140l2
|
UTSW |
1 |
85,224,736 (GRCm39) |
missense |
probably benign |
|
R8010:Sp140l2
|
UTSW |
1 |
85,224,671 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8034:Sp140l2
|
UTSW |
1 |
85,231,881 (GRCm39) |
missense |
probably benign |
0.35 |
R8382:Sp140l2
|
UTSW |
1 |
85,224,671 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8431:Sp140l2
|
UTSW |
1 |
85,235,170 (GRCm39) |
missense |
probably benign |
0.00 |
R8690:Sp140l2
|
UTSW |
1 |
85,235,170 (GRCm39) |
missense |
probably benign |
0.00 |
R8951:Sp140l2
|
UTSW |
1 |
85,224,671 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9150:Sp140l2
|
UTSW |
1 |
85,091,359 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1176:Sp140l2
|
UTSW |
1 |
85,091,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCCCATAGTTGACCTTTAG -3'
(R):5'- CGGGGTACTTCTCCATGTTGAC -3'
Sequencing Primer
(F):5'- AGCCCATATTTCCCTTTCAAAGTTGG -3'
(R):5'- ATTCGCACAGTACCGTCATG -3'
|
Posted On |
2019-02-22 |