Incidental Mutation 'R4277:Sp140l1'
| ID |
381208 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sp140l1
|
| Ensembl Gene |
ENSMUSG00000089844 |
| Gene Name |
Sp140 nuclear body protein like 1 |
| Synonyms |
A530032D15Rik, LOC381287 |
| MMRRC Submission |
041078-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R4277 (G1)
|
| Quality Score |
29 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
85065860-85088016 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to T
at 85066521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160792]
[ENSMUST00000161724]
|
| AlphaFold |
E9Q422 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159114
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000160792
AA Change: S205N
|
| SMART Domains |
Protein: ENSMUSP00000125122
Gene: ENSMUSG00000089844
AA Change: S205N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
23 |
125 |
9.7e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161724
|
| SMART Domains |
Protein: ENSMUSP00000123750
Gene: ENSMUSG00000089844
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
24 |
122 |
2.4e-40 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1b7 |
A |
G |
6: 34,397,955 (GRCm39) |
|
probably benign |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
T |
A |
1: 109,993,418 (GRCm39) |
I291K |
probably benign |
Het |
| Cdhr3 |
T |
G |
12: 33,110,232 (GRCm39) |
S351R |
probably null |
Het |
| Dnah10 |
T |
C |
5: 124,809,394 (GRCm39) |
S221P |
probably benign |
Het |
| Dstyk |
G |
A |
1: 132,383,151 (GRCm39) |
|
probably null |
Het |
| Ern1 |
T |
C |
11: 106,298,007 (GRCm39) |
I705V |
probably benign |
Het |
| Folh1 |
A |
G |
7: 86,412,123 (GRCm39) |
|
probably null |
Het |
| Hemk1 |
A |
G |
9: 107,205,728 (GRCm39) |
Y260H |
possibly damaging |
Het |
| Jmjd8 |
A |
G |
17: 26,048,787 (GRCm39) |
|
probably benign |
Het |
| Ldhc |
G |
A |
7: 46,515,890 (GRCm39) |
A62T |
probably benign |
Het |
| Ndufs1 |
C |
T |
1: 63,209,256 (GRCm39) |
V36I |
possibly damaging |
Het |
| Nsun4 |
C |
T |
4: 115,891,479 (GRCm39) |
G300D |
probably damaging |
Het |
| Nsun5 |
A |
G |
5: 135,398,914 (GRCm39) |
Y26C |
probably damaging |
Het |
| Ntn4 |
T |
C |
10: 93,577,072 (GRCm39) |
I580T |
possibly damaging |
Het |
| Or7d10 |
A |
G |
9: 19,831,685 (GRCm39) |
Y60C |
possibly damaging |
Het |
| Rasal2 |
A |
T |
1: 156,984,696 (GRCm39) |
I992N |
possibly damaging |
Het |
| Rasgrp4 |
T |
A |
7: 28,852,019 (GRCm39) |
|
probably benign |
Het |
| Rbp3 |
G |
A |
14: 33,680,607 (GRCm39) |
V1070I |
probably benign |
Het |
| Spp2 |
T |
C |
1: 88,338,873 (GRCm39) |
F79L |
probably damaging |
Het |
| Tmem260 |
C |
T |
14: 48,715,093 (GRCm39) |
T249M |
probably damaging |
Het |
| Trpv3 |
A |
G |
11: 73,187,264 (GRCm39) |
T699A |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Vegfa |
A |
G |
17: 46,342,392 (GRCm39) |
V142A |
probably benign |
Het |
| Vnn1 |
A |
T |
10: 23,774,410 (GRCm39) |
D151V |
possibly damaging |
Het |
|
| Other mutations in Sp140l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
FR4340:Sp140l1
|
UTSW |
1 |
85,087,072 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4131001:Sp140l1
|
UTSW |
1 |
85,077,341 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4142001:Sp140l1
|
UTSW |
1 |
85,077,341 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0602:Sp140l1
|
UTSW |
1 |
85,077,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0831:Sp140l1
|
UTSW |
1 |
85,077,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1147:Sp140l1
|
UTSW |
1 |
85,077,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1852:Sp140l1
|
UTSW |
1 |
85,062,852 (GRCm39) |
unclassified |
probably benign |
|
|
R4385:Sp140l1
|
UTSW |
1 |
85,087,057 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4391:Sp140l1
|
UTSW |
1 |
85,062,852 (GRCm39) |
unclassified |
probably benign |
|
|
R4691:Sp140l1
|
UTSW |
1 |
85,066,521 (GRCm39) |
intron |
probably benign |
|
|
R4863:Sp140l1
|
UTSW |
1 |
85,066,521 (GRCm39) |
intron |
probably benign |
|
|
R5173:Sp140l1
|
UTSW |
1 |
85,078,288 (GRCm39) |
nonsense |
probably null |
|
|
R5176:Sp140l1
|
UTSW |
1 |
85,066,521 (GRCm39) |
intron |
probably benign |
|
|
R8174:Sp140l1
|
UTSW |
1 |
85,077,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9606:Sp140l1
|
UTSW |
1 |
85,075,344 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTGCTGAGTCCTCACTGAG -3'
(R):5'- TTTCTCAGAACATACCCCACTGG -3'
Sequencing Primer
(F):5'- GAGTCTTTCAAATCCCGTCACAG -3'
(R):5'- CCCCACTGGTAAGCAATGGATG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation