Incidental Mutation 'IGL02941:Specc1l'
| ID |
364492 |
| 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: 0.553)
|
| Stock # |
IGL02941
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
75047872-75148234 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75077022 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 93
(I93V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151552
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040105]
[ENSMUST00000105421]
[ENSMUST00000218766]
[ENSMUST00000219387]
|
| AlphaFold |
Q2KN98 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040105
AA Change: I110V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000045099
Gene: ENSMUSG00000033444
AA Change: I110V
| 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 benign
Transcript: ENSMUST00000105421
AA Change: I110V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101061
Gene: ENSMUSG00000033444
AA Change: I110V
| 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 benign
Transcript: ENSMUST00000218766
AA Change: I93V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218876
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219387
AA Change: I93V
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405O20Rik |
G |
A |
7: 50,249,284 (GRCm39) |
R106Q |
probably damaging |
Het |
| Amhr2 |
T |
C |
15: 102,355,724 (GRCm39) |
V223A |
probably damaging |
Het |
| Aqr |
T |
A |
2: 113,943,835 (GRCm39) |
H1101L |
probably damaging |
Het |
| Arnt |
T |
A |
3: 95,367,681 (GRCm39) |
|
probably benign |
Het |
| Cacnb2 |
G |
A |
2: 14,963,640 (GRCm39) |
V85I |
probably benign |
Het |
| Cast |
A |
T |
13: 74,848,806 (GRCm39) |
D727E |
probably damaging |
Het |
| Ccdc134 |
C |
T |
15: 82,025,151 (GRCm39) |
R217W |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,801,207 (GRCm39) |
D775N |
possibly damaging |
Het |
| Col5a3 |
A |
G |
9: 20,715,962 (GRCm39) |
S360P |
unknown |
Het |
| Cyp4f16 |
T |
C |
17: 32,756,061 (GRCm39) |
I30T |
possibly damaging |
Het |
| Dop1b |
T |
C |
16: 93,552,361 (GRCm39) |
F267L |
probably benign |
Het |
| Fbxo3 |
A |
G |
2: 103,880,639 (GRCm39) |
T250A |
probably damaging |
Het |
| Gm4953 |
C |
T |
1: 158,995,963 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9242 |
T |
C |
16: 97,292,279 (GRCm39) |
|
probably benign |
Het |
| Gsr |
G |
A |
8: 34,179,453 (GRCm39) |
V354I |
probably damaging |
Het |
| H2bc21 |
A |
G |
3: 96,128,732 (GRCm39) |
Y84C |
possibly damaging |
Het |
| Hecw1 |
T |
A |
13: 14,552,311 (GRCm39) |
D96V |
probably damaging |
Het |
| Il18r1 |
A |
G |
1: 40,537,711 (GRCm39) |
Y492C |
probably damaging |
Het |
| Itgb5 |
T |
G |
16: 33,764,465 (GRCm39) |
|
probably benign |
Het |
| Lars2 |
T |
G |
9: 123,288,650 (GRCm39) |
L832R |
probably damaging |
Het |
| Ms4a6c |
A |
G |
19: 11,448,466 (GRCm39) |
|
probably benign |
Het |
| Nrxn1 |
T |
C |
17: 90,515,811 (GRCm39) |
S1227G |
probably damaging |
Het |
| Or1j11 |
T |
C |
2: 36,312,132 (GRCm39) |
C241R |
probably damaging |
Het |
| Or2c1 |
T |
C |
16: 3,657,680 (GRCm39) |
V281A |
possibly damaging |
Het |
| Or52r1c |
A |
G |
7: 102,735,528 (GRCm39) |
T263A |
probably benign |
Het |
| Pcdh17 |
A |
G |
14: 84,685,747 (GRCm39) |
Y738C |
probably damaging |
Het |
| Pcsk5 |
C |
A |
19: 17,424,865 (GRCm39) |
C1646F |
probably damaging |
Het |
| Pirb |
A |
G |
7: 3,720,377 (GRCm39) |
V332A |
probably damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Polrmt |
A |
T |
10: 79,573,092 (GRCm39) |
|
probably benign |
Het |
| Saxo1 |
G |
T |
4: 86,363,821 (GRCm39) |
R221S |
probably damaging |
Het |
| St8sia2 |
T |
A |
7: 73,626,397 (GRCm39) |
|
probably benign |
Het |
| Tep1 |
A |
T |
14: 51,103,494 (GRCm39) |
N265K |
probably damaging |
Het |
| Thbd |
A |
T |
2: 148,248,954 (GRCm39) |
Y305N |
probably damaging |
Het |
| Tmem120a |
T |
C |
5: 135,764,605 (GRCm39) |
T325A |
probably damaging |
Het |
| Vill |
G |
A |
9: 118,895,955 (GRCm39) |
|
probably benign |
Het |
| Wdr35 |
A |
G |
12: 9,077,507 (GRCm39) |
D1060G |
probably damaging |
Het |
| Xrn2 |
T |
A |
2: 146,868,444 (GRCm39) |
F166I |
probably damaging |
Het |
| Zc3h7a |
T |
G |
16: 10,976,458 (GRCm39) |
|
probably null |
Het |
| Zdhhc13 |
G |
A |
7: 48,466,886 (GRCm39) |
|
probably benign |
Het |
| Zfp808 |
T |
A |
13: 62,320,944 (GRCm39) |
N724K |
possibly 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 |
|
IGL02737:Specc1l
|
APN |
10 |
75,082,158 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2015-12-18 |
Incidental Mutation