Incidental Mutation 'IGL02737:Specc1l'
| ID |
305711 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Specc1l
|
| Ensembl Gene |
ENSMUSG00000033444 |
| Gene Name |
sperm antigen with calponin homology and coiled-coil domains 1-like |
| Synonyms |
9530057A13Rik, Specc1l, 4932439K10Rik, 4930470P14Rik, Cytsa |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.560)
|
| Stock # |
IGL02737
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
75047872-75148234 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 75082158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 535
(S535N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101061
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040105]
[ENSMUST00000105421]
[ENSMUST00000218766]
[ENSMUST00000219387]
|
| AlphaFold |
Q2KN98 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040105
AA Change: S535N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000045099
Gene: ENSMUSG00000033444
AA Change: S535N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
97 |
107 |
N/A |
INTRINSIC |
|
low complexity region
|
135 |
149 |
N/A |
INTRINSIC |
|
coiled coil region
|
255 |
298 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
390 |
N/A |
INTRINSIC |
|
coiled coil region
|
412 |
467 |
N/A |
INTRINSIC |
|
coiled coil region
|
505 |
825 |
N/A |
INTRINSIC |
|
low complexity region
|
846 |
858 |
N/A |
INTRINSIC |
|
low complexity region
|
989 |
1010 |
N/A |
INTRINSIC |
|
CH
|
1031 |
1129 |
1.52e-15 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105421
AA Change: S535N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000101061
Gene: ENSMUSG00000033444
AA Change: S535N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
80 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
132 |
N/A |
INTRINSIC |
|
coiled coil region
|
238 |
281 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
373 |
N/A |
INTRINSIC |
|
coiled coil region
|
395 |
450 |
N/A |
INTRINSIC |
|
coiled coil region
|
488 |
808 |
N/A |
INTRINSIC |
|
low complexity region
|
829 |
841 |
N/A |
INTRINSIC |
|
low complexity region
|
972 |
993 |
N/A |
INTRINSIC |
|
CH
|
1014 |
1112 |
1.52e-15 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218766
AA Change: S518N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218876
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219387
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygous knockout affects cranial neural crest cell migration, which causes neural tube closure defects and leads to embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
A |
2: 68,566,904 (GRCm39) |
H434Q |
possibly damaging |
Het |
| 5430401F13Rik |
A |
T |
6: 131,529,555 (GRCm39) |
I50L |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,981,957 (GRCm39) |
M1080I |
probably benign |
Het |
| Aoc1 |
A |
G |
6: 48,884,577 (GRCm39) |
K540R |
probably benign |
Het |
| Aplp2 |
T |
C |
9: 31,064,712 (GRCm39) |
M585V |
probably benign |
Het |
| C3 |
A |
G |
17: 57,511,281 (GRCm39) |
L1607P |
probably benign |
Het |
| C6 |
A |
G |
15: 4,826,396 (GRCm39) |
K660E |
probably benign |
Het |
| Cabin1 |
T |
C |
10: 75,549,419 (GRCm39) |
T1329A |
probably benign |
Het |
| Ccdc141 |
T |
A |
2: 76,888,268 (GRCm39) |
N499I |
probably damaging |
Het |
| Cdh5 |
A |
G |
8: 104,869,560 (GRCm39) |
D762G |
probably damaging |
Het |
| Cep152 |
T |
C |
2: 125,428,394 (GRCm39) |
R746G |
possibly damaging |
Het |
| Cps1 |
A |
T |
1: 67,187,933 (GRCm39) |
Q198L |
probably benign |
Het |
| Cstpp1 |
T |
A |
2: 91,135,142 (GRCm39) |
Q9L |
probably damaging |
Het |
| Eri3 |
T |
C |
4: 117,422,057 (GRCm39) |
F112L |
probably damaging |
Het |
| Fam180a |
C |
A |
6: 35,290,488 (GRCm39) |
R165L |
probably benign |
Het |
| Fkbp10 |
A |
C |
11: 100,313,481 (GRCm39) |
I252L |
probably benign |
Het |
| Gtf2f1 |
G |
T |
17: 57,310,918 (GRCm39) |
Q410K |
possibly damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,439,579 (GRCm39) |
Y5535C |
probably damaging |
Het |
| Ifrd2 |
T |
A |
9: 107,469,369 (GRCm39) |
D372E |
probably benign |
Het |
| Il3ra |
A |
G |
14: 14,350,760 (GRCm38) |
N165S |
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,957,183 (GRCm39) |
N2164S |
probably benign |
Het |
| Krtap19-9a |
A |
G |
16: 88,721,099 (GRCm39) |
|
noncoding transcript |
Het |
| Nopchap1 |
T |
A |
10: 83,200,309 (GRCm39) |
M90K |
probably damaging |
Het |
| Or12d13 |
T |
A |
17: 37,647,664 (GRCm39) |
H153L |
possibly damaging |
Het |
| Pclo |
T |
C |
5: 14,764,177 (GRCm39) |
S4217P |
unknown |
Het |
| Ppfibp1 |
G |
A |
6: 146,928,806 (GRCm39) |
V798I |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 17,170,775 (GRCm39) |
R165* |
probably null |
Het |
| Ptges |
T |
C |
2: 30,782,698 (GRCm39) |
Y118C |
probably damaging |
Het |
| Rab11fip5 |
C |
A |
6: 85,325,540 (GRCm39) |
G289W |
probably damaging |
Het |
| Rfc1 |
T |
C |
5: 65,468,506 (GRCm39) |
D69G |
possibly damaging |
Het |
| Scube1 |
A |
G |
15: 83,606,044 (GRCm39) |
|
probably benign |
Het |
| Slc5a6 |
G |
A |
5: 31,194,511 (GRCm39) |
P565L |
probably benign |
Het |
| Sncaip |
C |
A |
18: 53,040,128 (GRCm39) |
T774K |
probably benign |
Het |
| Spata31f1a |
C |
A |
4: 42,849,431 (GRCm39) |
L908F |
possibly damaging |
Het |
| Tbk1 |
C |
T |
10: 121,395,767 (GRCm39) |
G442E |
probably null |
Het |
| Thoc7 |
A |
T |
14: 13,953,443 (GRCm38) |
M78K |
possibly damaging |
Het |
| Usp15 |
A |
G |
10: 122,966,937 (GRCm39) |
F461S |
probably damaging |
Het |
| Vmn2r6 |
T |
A |
3: 64,463,911 (GRCm39) |
I308L |
possibly damaging |
Het |
| Zhx2 |
C |
A |
15: 57,685,663 (GRCm39) |
T344N |
probably damaging |
Het |
|
| Other mutations in Specc1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00549:Specc1l
|
APN |
10 |
75,082,055 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01638:Specc1l
|
APN |
10 |
75,082,039 (GRCm39) |
nonsense |
probably null |
|
|
IGL01970:Specc1l
|
APN |
10 |
75,081,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02539:Specc1l
|
APN |
10 |
75,103,342 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02941:Specc1l
|
APN |
10 |
75,077,022 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0305:Specc1l
|
UTSW |
10 |
75,081,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0374:Specc1l
|
UTSW |
10 |
75,084,293 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0402:Specc1l
|
UTSW |
10 |
75,082,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1456:Specc1l
|
UTSW |
10 |
75,082,118 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1508:Specc1l
|
UTSW |
10 |
75,143,072 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1861:Specc1l
|
UTSW |
10 |
75,145,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1869:Specc1l
|
UTSW |
10 |
75,097,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Specc1l
|
UTSW |
10 |
75,081,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1930:Specc1l
|
UTSW |
10 |
75,145,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2021:Specc1l
|
UTSW |
10 |
75,103,425 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2209:Specc1l
|
UTSW |
10 |
75,082,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2271:Specc1l
|
UTSW |
10 |
75,081,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2937:Specc1l
|
UTSW |
10 |
75,094,965 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4415:Specc1l
|
UTSW |
10 |
75,082,162 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4758:Specc1l
|
UTSW |
10 |
75,082,182 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5344:Specc1l
|
UTSW |
10 |
75,082,007 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5383:Specc1l
|
UTSW |
10 |
75,082,539 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5426:Specc1l
|
UTSW |
10 |
75,103,384 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5774:Specc1l
|
UTSW |
10 |
75,081,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5788:Specc1l
|
UTSW |
10 |
75,112,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6101:Specc1l
|
UTSW |
10 |
75,084,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6105:Specc1l
|
UTSW |
10 |
75,084,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6136:Specc1l
|
UTSW |
10 |
75,082,494 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6345:Specc1l
|
UTSW |
10 |
75,084,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6459:Specc1l
|
UTSW |
10 |
75,082,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6641:Specc1l
|
UTSW |
10 |
75,082,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6996:Specc1l
|
UTSW |
10 |
75,082,113 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7100:Specc1l
|
UTSW |
10 |
75,081,329 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7475:Specc1l
|
UTSW |
10 |
75,082,281 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7545:Specc1l
|
UTSW |
10 |
75,080,921 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7615:Specc1l
|
UTSW |
10 |
75,099,120 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7635:Specc1l
|
UTSW |
10 |
75,112,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7640:Specc1l
|
UTSW |
10 |
75,093,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7682:Specc1l
|
UTSW |
10 |
75,081,636 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7711:Specc1l
|
UTSW |
10 |
75,066,642 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7742:Specc1l
|
UTSW |
10 |
75,082,251 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7847:Specc1l
|
UTSW |
10 |
75,145,670 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8015:Specc1l
|
UTSW |
10 |
75,076,902 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8030:Specc1l
|
UTSW |
10 |
75,084,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8882:Specc1l
|
UTSW |
10 |
75,065,689 (GRCm39) |
start codon destroyed |
unknown |
|
|
R9069:Specc1l
|
UTSW |
10 |
75,066,640 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9790:Specc1l
|
UTSW |
10 |
75,066,603 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9791:Specc1l
|
UTSW |
10 |
75,066,603 (GRCm39) |
missense |
probably benign |
0.21 |
|
X0021:Specc1l
|
UTSW |
10 |
75,109,874 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation