Incidental Mutation 'R4120:Sp140l2'
| ID |
315254 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sp140l2
|
| Ensembl Gene |
ENSMUSG00000052477 |
| Gene Name |
Sp140 nuclear body protein like 2 |
| Synonyms |
OTTMUSG00000029174, C130026I21Rik |
| MMRRC Submission |
040993-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.415)
|
| Stock # |
R4120 (G1)
|
| Quality Score |
112 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
85219007-85260602 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 85237542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 81
(V81M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064341]
[ENSMUST00000093506]
[ENSMUST00000159582]
[ENSMUST00000161267]
[ENSMUST00000162421]
|
| AlphaFold |
Q8C898 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064341
AA Change: V81M
PolyPhen 2
Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000066587
Gene: ENSMUSG00000052477
AA Change: V81M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
23 |
125 |
2.8e-38 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093506
AA Change: V81M
PolyPhen 2
Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000091224
Gene: ENSMUSG00000052477
AA Change: V81M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
24 |
122 |
1.1e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159582
AA Change: V81M
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000125160
Gene: ENSMUSG00000052477
AA Change: V81M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
23 |
125 |
6.1e-39 |
PFAM |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000162347
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162421
|
| SMART Domains |
Protein: ENSMUSP00000125215
Gene: ENSMUSG00000052477
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
40 |
135 |
2.2e-39 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166777
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
93% (55/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
C |
A |
1: 25,133,388 (GRCm39) |
E1233* |
probably null |
Het |
| Afap1l1 |
T |
C |
18: 61,872,243 (GRCm39) |
D526G |
probably damaging |
Het |
| Ago4 |
A |
G |
4: 126,390,600 (GRCm39) |
Y807H |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,605,310 (GRCm39) |
|
probably null |
Het |
| Arhgap40 |
A |
G |
2: 158,374,250 (GRCm39) |
M222V |
probably benign |
Het |
| Asnsd1 |
A |
G |
1: 53,387,154 (GRCm39) |
S158P |
probably damaging |
Het |
| Cdh15 |
T |
C |
8: 123,590,162 (GRCm39) |
V365A |
probably damaging |
Het |
| Clca3a2 |
T |
C |
3: 144,516,613 (GRCm39) |
M328V |
probably benign |
Het |
| Col4a1 |
G |
A |
8: 11,256,263 (GRCm39) |
P1535S |
unknown |
Het |
| Dennd2a |
G |
A |
6: 39,442,030 (GRCm39) |
R947C |
probably damaging |
Het |
| Dlg2 |
G |
A |
7: 91,614,846 (GRCm39) |
V217I |
probably damaging |
Het |
| Dnaaf2 |
T |
C |
12: 69,244,812 (GRCm39) |
D83G |
possibly damaging |
Het |
| Dppa5a |
A |
T |
9: 78,275,137 (GRCm39) |
M55K |
possibly damaging |
Het |
| Ect2l |
A |
G |
10: 18,006,466 (GRCm39) |
V779A |
probably benign |
Het |
| Ehhadh |
A |
G |
16: 21,581,934 (GRCm39) |
S353P |
probably benign |
Het |
| Etv3 |
A |
G |
3: 87,443,589 (GRCm39) |
D391G |
probably benign |
Het |
| Fastkd1 |
T |
A |
2: 69,537,654 (GRCm39) |
K309N |
probably damaging |
Het |
| Fip1l1 |
T |
A |
5: 74,748,852 (GRCm39) |
Y375N |
probably damaging |
Het |
| Flvcr2 |
T |
C |
12: 85,832,903 (GRCm39) |
S308P |
probably benign |
Het |
| Fyco1 |
T |
C |
9: 123,654,691 (GRCm39) |
Y1065C |
probably benign |
Het |
| Gfra2 |
A |
G |
14: 71,203,715 (GRCm39) |
D31G |
probably damaging |
Het |
| Gm17175 |
A |
T |
14: 51,810,534 (GRCm39) |
I31N |
probably damaging |
Het |
| Gm6003 |
T |
A |
7: 32,864,976 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9951 |
T |
C |
8: 34,522,993 (GRCm39) |
|
noncoding transcript |
Het |
| Hspa2 |
A |
G |
12: 76,452,008 (GRCm39) |
E234G |
probably damaging |
Het |
| Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
| Iqsec1 |
A |
T |
6: 90,639,584 (GRCm39) |
Y1065* |
probably null |
Het |
| Ltk |
T |
A |
2: 119,588,429 (GRCm39) |
|
probably benign |
Het |
| Map2 |
G |
A |
1: 66,455,063 (GRCm39) |
A1318T |
probably damaging |
Het |
| Mas1 |
A |
T |
17: 13,061,233 (GRCm39) |
N63K |
probably damaging |
Het |
| Myo15b |
T |
C |
11: 115,764,318 (GRCm39) |
S1311P |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,739,605 (GRCm39) |
|
probably null |
Het |
| Nlrp1c-ps |
T |
C |
11: 71,133,359 (GRCm39) |
|
noncoding transcript |
Het |
| Oca2 |
A |
T |
7: 55,904,630 (GRCm39) |
D32V |
probably damaging |
Het |
| Or51v8 |
T |
C |
7: 103,320,221 (GRCm39) |
T6A |
probably benign |
Het |
| Or8b9 |
T |
C |
9: 37,766,705 (GRCm39) |
L197S |
possibly damaging |
Het |
| Otub2 |
T |
C |
12: 103,370,489 (GRCm39) |
V257A |
probably damaging |
Het |
| Pink1 |
G |
A |
4: 138,042,822 (GRCm39) |
R461* |
probably null |
Het |
| Plxna2 |
T |
C |
1: 194,462,935 (GRCm39) |
C901R |
probably damaging |
Het |
| Ptchd3 |
T |
A |
11: 121,721,572 (GRCm39) |
N148K |
probably damaging |
Het |
| Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
| Ripor1 |
T |
A |
8: 106,345,489 (GRCm39) |
|
probably benign |
Het |
| Sec13 |
T |
C |
6: 113,711,637 (GRCm39) |
N107S |
probably damaging |
Het |
| Slc12a2 |
A |
G |
18: 58,032,427 (GRCm39) |
M376V |
possibly damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,895,010 (GRCm39) |
D798V |
possibly damaging |
Het |
| Stradb |
T |
A |
1: 59,019,168 (GRCm39) |
Y30N |
possibly damaging |
Het |
| Syne1 |
T |
A |
10: 5,359,798 (GRCm39) |
Q328L |
probably damaging |
Het |
| Ttc23l |
A |
C |
15: 10,540,006 (GRCm39) |
V159G |
probably damaging |
Het |
| Vmn2r100 |
T |
C |
17: 19,752,215 (GRCm39) |
S753P |
probably damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,778 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r39 |
G |
A |
7: 9,026,673 (GRCm39) |
H443Y |
probably benign |
Het |
| Zfp936 |
A |
G |
7: 42,839,630 (GRCm39) |
T366A |
probably benign |
Het |
| Zkscan3 |
T |
C |
13: 21,578,119 (GRCm39) |
E256G |
possibly 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 |
|
|
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 |
|
R6614:Sp140l2
|
UTSW |
1 |
85,179,781 (GRCm39) |
splice site |
probably null |
|
|
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'- GCTTGGCATGACATAGTCTCTC -3'
(R):5'- TCACCTCGGTATTTGCAAAAC -3'
Sequencing Primer
(F):5'- CTGGTCTACAAAGTGAGCTCCAG -3'
(R):5'- CTCGGTATTTGCAAAACTCAGAC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation