Incidental Mutation 'R1671:Sp140l2'
ID |
257002 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sp140l2
|
Ensembl Gene |
ENSMUSG00000052477 |
Gene Name |
Sp140 nuclear body protein like 2 |
Synonyms |
OTTMUSG00000029174, C130026I21Rik |
MMRRC Submission |
039707-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.415)
|
Stock # |
R1671 (G1)
|
Quality Score |
49 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
85219007-85260602 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 85235106 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000066587 Gene: ENSMUSG00000052477
Domain | Start | End | E-Value | Type |
Pfam:Sp100
|
23 |
125 |
2.8e-38 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000093506
|
SMART Domains |
Protein: ENSMUSP00000091224 Gene: ENSMUSG00000052477
Domain | Start | End | E-Value | Type |
Pfam:Sp100
|
24 |
122 |
1.1e-40 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159582
|
SMART Domains |
Protein: ENSMUSP00000125160 Gene: ENSMUSG00000052477
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 |
probably benign
Transcript: ENSMUST00000161685
|
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: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
Validation Efficiency |
100% (70/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930578I06Rik |
A |
C |
14: 64,210,637 (GRCm39) |
L197R |
probably benign |
Het |
Arglu1 |
A |
G |
8: 8,733,896 (GRCm39) |
V140A |
possibly damaging |
Het |
Arhgef28 |
T |
C |
13: 98,067,542 (GRCm39) |
E1461G |
possibly damaging |
Het |
Best3 |
A |
T |
10: 116,860,573 (GRCm39) |
D611V |
possibly damaging |
Het |
Cenpf |
T |
C |
1: 189,411,341 (GRCm39) |
|
probably null |
Het |
Cenpj |
A |
C |
14: 56,802,502 (GRCm39) |
M21R |
probably damaging |
Het |
Cltc |
A |
T |
11: 86,623,421 (GRCm39) |
H201Q |
possibly damaging |
Het |
Col28a1 |
A |
T |
6: 8,083,773 (GRCm39) |
N561K |
possibly damaging |
Het |
Cyp2c70 |
G |
A |
19: 40,142,081 (GRCm39) |
P470L |
probably damaging |
Het |
Cyp4f14 |
G |
A |
17: 33,135,883 (GRCm39) |
|
probably benign |
Het |
Ddi1 |
A |
T |
9: 6,266,225 (GRCm39) |
V48D |
possibly damaging |
Het |
Dnah11 |
A |
C |
12: 117,880,523 (GRCm39) |
Y3866D |
probably damaging |
Het |
Dnah9 |
A |
G |
11: 65,818,789 (GRCm39) |
V3183A |
probably damaging |
Het |
Elmo1 |
T |
A |
13: 20,472,054 (GRCm39) |
|
probably benign |
Het |
Fap |
T |
A |
2: 62,384,179 (GRCm39) |
Y9F |
possibly damaging |
Het |
Fbxo15 |
T |
A |
18: 84,977,231 (GRCm39) |
S93T |
possibly damaging |
Het |
Gal3st2 |
C |
T |
1: 93,801,400 (GRCm39) |
R19C |
probably damaging |
Het |
Gmnn |
A |
T |
13: 24,936,054 (GRCm39) |
*207R |
probably null |
Het |
Gucy1a1 |
A |
C |
3: 82,013,529 (GRCm39) |
I371S |
probably damaging |
Het |
H1f11-ps |
C |
A |
19: 47,159,294 (GRCm39) |
V94L |
possibly damaging |
Het |
Igsf10 |
G |
T |
3: 59,235,921 (GRCm39) |
S1420* |
probably null |
Het |
Itih5 |
G |
T |
2: 10,191,782 (GRCm39) |
V106L |
probably benign |
Het |
Itsn1 |
T |
A |
16: 91,609,038 (GRCm39) |
I201K |
probably damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lars2 |
C |
T |
9: 123,247,344 (GRCm39) |
T283I |
probably benign |
Het |
Loxhd1 |
T |
C |
18: 77,492,498 (GRCm39) |
I1313T |
probably damaging |
Het |
Mamdc4 |
T |
A |
2: 25,458,235 (GRCm39) |
R368* |
probably null |
Het |
Mdga1 |
A |
T |
17: 30,069,603 (GRCm39) |
Y422N |
probably damaging |
Het |
Mro |
A |
T |
18: 74,003,126 (GRCm39) |
|
probably benign |
Het |
Mroh2b |
T |
C |
15: 4,980,776 (GRCm39) |
|
probably null |
Het |
Nlrp1b |
C |
A |
11: 71,092,085 (GRCm39) |
V14L |
probably benign |
Het |
Nos3 |
A |
G |
5: 24,588,838 (GRCm39) |
D1157G |
probably damaging |
Het |
Nrxn2 |
C |
A |
19: 6,523,780 (GRCm39) |
R598S |
probably damaging |
Het |
Or2av9 |
A |
T |
11: 58,381,435 (GRCm39) |
W49R |
possibly damaging |
Het |
Or4k1 |
T |
C |
14: 50,377,290 (GRCm39) |
K269E |
probably damaging |
Het |
Or52ae9 |
C |
A |
7: 103,389,617 (GRCm39) |
A277S |
possibly damaging |
Het |
Or8b101 |
A |
G |
9: 38,020,428 (GRCm39) |
M144V |
probably benign |
Het |
Otog |
A |
T |
7: 45,911,210 (GRCm39) |
D687V |
probably damaging |
Het |
Pcsk5 |
C |
T |
19: 17,432,232 (GRCm39) |
C1461Y |
probably damaging |
Het |
Raet1d |
A |
G |
10: 22,238,614 (GRCm39) |
M1V |
probably null |
Het |
Rnf6 |
A |
T |
5: 146,147,998 (GRCm39) |
L340* |
probably null |
Het |
Rsl1d1 |
T |
C |
16: 11,019,245 (GRCm39) |
T99A |
probably damaging |
Het |
Sbno1 |
A |
T |
5: 124,530,130 (GRCm39) |
|
probably null |
Het |
Sipa1l1 |
A |
G |
12: 82,444,235 (GRCm39) |
Y982C |
probably damaging |
Het |
Sorbs3 |
G |
T |
14: 70,428,915 (GRCm39) |
R417S |
possibly damaging |
Het |
Sorl1 |
A |
G |
9: 41,885,296 (GRCm39) |
C2102R |
probably damaging |
Het |
Sptbn1 |
T |
A |
11: 30,092,245 (GRCm39) |
I494F |
possibly damaging |
Het |
Tank |
T |
A |
2: 61,480,097 (GRCm39) |
V211E |
probably damaging |
Het |
Tbcd |
T |
A |
11: 121,488,120 (GRCm39) |
D840E |
probably benign |
Het |
Tg |
T |
A |
15: 66,564,236 (GRCm39) |
C1146S |
possibly damaging |
Het |
Tiam2 |
A |
T |
17: 3,557,109 (GRCm39) |
E110V |
probably damaging |
Het |
Tle4 |
A |
T |
19: 14,431,103 (GRCm39) |
W560R |
probably damaging |
Het |
Triml2 |
G |
A |
8: 43,636,780 (GRCm39) |
R76H |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,541,964 (GRCm39) |
E25347G |
probably damaging |
Het |
Ube2e2 |
A |
G |
14: 18,586,889 (GRCm38) |
L124P |
probably damaging |
Het |
Vmn2r81 |
A |
G |
10: 79,103,265 (GRCm39) |
K153E |
probably benign |
Het |
Wnt16 |
A |
T |
6: 22,298,178 (GRCm39) |
Y348F |
probably damaging |
Het |
Xpo6 |
A |
G |
7: 125,707,715 (GRCm39) |
V897A |
possibly damaging |
Het |
Zbtb26 |
T |
C |
2: 37,326,377 (GRCm39) |
T220A |
probably benign |
Het |
Zik1 |
A |
T |
7: 10,224,675 (GRCm39) |
S141T |
probably damaging |
Het |
Zkscan3 |
A |
G |
13: 21,580,305 (GRCm39) |
Y128H |
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 |
|
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 |
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'- GACAGATCTCAAACACCCTGACGTG -3'
(R):5'- GAGAGAGTGCTTGGAAGTCTCTGC -3'
Sequencing Primer
(F):5'- gtgggtgagtaagtggatgg -3'
(R):5'- TGGAAGTCTCTGCTTCATAACTG -3'
|
Posted On |
2015-01-05 |