Incidental Mutation 'R9150:Sp140l2'
| ID |
694945 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sp140l2
|
| Ensembl Gene |
ENSMUSG00000052477 |
| Gene Name |
Sp140 nuclear body protein like 2 |
| Synonyms |
OTTMUSG00000029174, C130026I21Rik |
| MMRRC Submission |
068938-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.415)
|
| Stock # |
R9150 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
85219007-85260602 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 85091359 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 33
(Q33L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125215
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160792]
[ENSMUST00000161267]
[ENSMUST00000161675]
[ENSMUST00000161724]
[ENSMUST00000162421]
|
| AlphaFold |
Q8C898 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160792
|
| SMART Domains |
Protein: ENSMUSP00000125122
Gene: ENSMUSG00000089844
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
23 |
125 |
9.7e-35 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161267
AA Change: Q17L
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124435
Gene: ENSMUSG00000052477
AA Change: Q17L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
23 |
119 |
1.8e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161675
|
| SMART Domains |
Protein: ENSMUSP00000123812
Gene: ENSMUSG00000089844
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
23 |
121 |
3.7e-38 |
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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162421
AA Change: Q33L
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125215
Gene: ENSMUSG00000052477
AA Change: Q33L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sp100
|
40 |
135 |
2.2e-39 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (56/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6b |
CTCCGGTGAGTGCCTCATCC |
CTCC |
5: 137,553,354 (GRCm39) |
|
probably null |
Het |
| Ampd1 |
A |
T |
3: 102,988,359 (GRCm39) |
I101F |
possibly damaging |
Het |
| Arhgap11a |
A |
G |
2: 113,673,614 (GRCm39) |
V92A |
possibly damaging |
Het |
| Arih1 |
C |
A |
9: 59,344,069 (GRCm39) |
L189F |
possibly damaging |
Het |
| B4galt3 |
A |
G |
1: 171,103,899 (GRCm39) |
R379G |
probably benign |
Het |
| Capn12 |
A |
G |
7: 28,590,378 (GRCm39) |
N642D |
probably benign |
Het |
| Cdc42ep3 |
T |
C |
17: 79,642,299 (GRCm39) |
H207R |
probably benign |
Het |
| Dcps |
A |
T |
9: 35,035,938 (GRCm39) |
L316H |
probably damaging |
Het |
| Dmgdh |
A |
G |
13: 93,825,103 (GRCm39) |
Y142C |
probably damaging |
Het |
| Elmo2 |
A |
G |
2: 165,140,607 (GRCm39) |
V300A |
probably damaging |
Het |
| Eml6 |
A |
T |
11: 29,755,791 (GRCm39) |
V821E |
probably benign |
Het |
| Fam181a |
A |
T |
12: 103,282,139 (GRCm39) |
N15Y |
probably damaging |
Het |
| Gm26657 |
G |
T |
4: 56,740,835 (GRCm39) |
E7* |
probably null |
Het |
| Gm8267 |
A |
T |
14: 44,955,362 (GRCm39) |
S220T |
probably benign |
Het |
| Gpld1 |
A |
T |
13: 25,146,305 (GRCm39) |
Y183F |
probably damaging |
Het |
| Gpr158 |
G |
A |
2: 21,831,251 (GRCm39) |
G784R |
probably benign |
Het |
| Grm2 |
A |
G |
9: 106,524,657 (GRCm39) |
L215P |
|
Het |
| Gtpbp1 |
A |
G |
15: 79,592,165 (GRCm39) |
D252G |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,103,448 (GRCm39) |
V1135A |
probably benign |
Het |
| Irag1 |
T |
C |
7: 110,498,205 (GRCm39) |
T397A |
probably benign |
Het |
| Lrrc8e |
A |
C |
8: 4,286,030 (GRCm39) |
K752Q |
probably benign |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Mapre2 |
A |
G |
18: 23,991,208 (GRCm39) |
T201A |
probably benign |
Het |
| Mcm9 |
A |
T |
10: 53,502,110 (GRCm39) |
N85K |
|
Het |
| Mdga1 |
T |
C |
17: 30,057,420 (GRCm39) |
T92A |
probably damaging |
Het |
| Nemf |
A |
C |
12: 69,387,820 (GRCm39) |
D421E |
probably benign |
Het |
| Oga |
A |
T |
19: 45,771,421 (GRCm39) |
V50E |
probably benign |
Het |
| Or13g1 |
G |
C |
7: 85,955,942 (GRCm39) |
F126L |
probably damaging |
Het |
| Or5k14 |
G |
T |
16: 58,693,005 (GRCm39) |
C169* |
probably null |
Het |
| Or5m3 |
A |
T |
2: 85,838,626 (GRCm39) |
K169* |
probably null |
Het |
| Or8k53 |
A |
T |
2: 86,177,336 (GRCm39) |
M258K |
probably damaging |
Het |
| Pcdhga5 |
A |
C |
18: 37,827,933 (GRCm39) |
N127T |
probably damaging |
Het |
| Phyhipl |
A |
T |
10: 70,404,887 (GRCm39) |
V107E |
probably damaging |
Het |
| Pkd1l1 |
G |
A |
11: 8,786,256 (GRCm39) |
R2383C |
|
Het |
| Ppp1r16a |
G |
A |
15: 76,575,054 (GRCm39) |
|
probably benign |
Het |
| Pramel20 |
A |
G |
4: 143,298,531 (GRCm39) |
Y158C |
probably benign |
Het |
| Rnf41 |
T |
C |
10: 128,272,399 (GRCm39) |
V142A |
|
Het |
| Sgcd |
C |
T |
11: 46,870,170 (GRCm39) |
V264I |
probably damaging |
Het |
| Six2 |
A |
G |
17: 85,992,763 (GRCm39) |
S247P |
probably benign |
Het |
| Slc17a7 |
T |
G |
7: 44,820,167 (GRCm39) |
Y241D |
probably damaging |
Het |
| Slc30a5 |
T |
A |
13: 100,939,915 (GRCm39) |
K724* |
probably null |
Het |
| Slitrk1 |
T |
A |
14: 109,149,101 (GRCm39) |
I537F |
possibly damaging |
Het |
| Spen |
C |
T |
4: 141,244,468 (GRCm39) |
R189Q |
unknown |
Het |
| Srd5a3 |
T |
A |
5: 76,297,615 (GRCm39) |
L139Q |
probably damaging |
Het |
| Tgfbrap1 |
A |
T |
1: 43,114,985 (GRCm39) |
Y38* |
probably null |
Het |
| Tln2 |
A |
T |
9: 67,128,778 (GRCm39) |
M1437K |
probably damaging |
Het |
| Tmem87b |
T |
C |
2: 128,687,401 (GRCm39) |
I467T |
probably damaging |
Het |
| Tnfrsf21 |
T |
A |
17: 43,398,691 (GRCm39) |
I599N |
probably damaging |
Het |
| Trmt112 |
T |
A |
19: 6,887,620 (GRCm39) |
L23Q |
probably damaging |
Het |
| Tsc22d1 |
T |
A |
14: 76,654,056 (GRCm39) |
N178K |
probably damaging |
Het |
| Ttc23 |
A |
G |
7: 67,375,850 (GRCm39) |
Y476C |
probably damaging |
Het |
| Twf1 |
A |
T |
15: 94,484,274 (GRCm39) |
W83R |
probably damaging |
Het |
| Vmn2r14 |
T |
A |
5: 109,367,783 (GRCm39) |
H403L |
probably damaging |
Het |
| Wiz |
A |
T |
17: 32,586,809 (GRCm39) |
I167N |
probably benign |
Het |
| Zdhhc22 |
G |
A |
12: 87,035,192 (GRCm39) |
P87S |
probably benign |
Het |
| Zfp618 |
C |
T |
4: 63,039,603 (GRCm39) |
Q401* |
probably null |
Het |
| Zfp715 |
T |
A |
7: 42,948,713 (GRCm39) |
I416F |
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 |
|
|
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 |
|
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 |
|
Z1176:Sp140l2
|
UTSW |
1 |
85,091,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGACTGAGTTCATTCTCCA -3'
(R):5'- CCCCAGTGATTTGCAGAACCT -3'
Sequencing Primer
(F):5'- AGGACTGAGTTCATTCTCCACACTC -3'
(R):5'- ATTGGTGCTACCCACAGTG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation