Incidental Mutation 'R2021:Specc1l'
| ID |
224001 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
040030-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.560)
|
| Stock # |
R2021 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
75047872-75148234 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 75103425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040105]
[ENSMUST00000105421]
[ENSMUST00000105421]
[ENSMUST00000218766]
|
| AlphaFold |
Q2KN98 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000040105
|
| SMART Domains |
Protein: ENSMUSP00000045099
Gene: ENSMUSG00000033444
| 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 null
Transcript: ENSMUST00000105421
|
| SMART Domains |
Protein: ENSMUSP00000101061
Gene: ENSMUSG00000033444
| 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 null
Transcript: ENSMUST00000105421
|
| SMART Domains |
Protein: ENSMUSP00000101061
Gene: ENSMUSG00000033444
| 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 null
Transcript: ENSMUST00000218766
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219430
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.2%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
A |
T |
19: 57,035,450 (GRCm39) |
S316T |
probably damaging |
Het |
| Alox8 |
C |
T |
11: 69,077,114 (GRCm39) |
V460I |
probably damaging |
Het |
| Aoc1l2 |
T |
C |
6: 48,908,385 (GRCm39) |
S462P |
probably damaging |
Het |
| Arvcf |
G |
A |
16: 18,218,482 (GRCm39) |
A491T |
probably damaging |
Het |
| Asnsd1 |
A |
G |
1: 53,386,386 (GRCm39) |
S414P |
possibly damaging |
Het |
| Btbd7 |
A |
G |
12: 102,756,968 (GRCm39) |
L706P |
probably damaging |
Het |
| Camk2d |
T |
A |
3: 126,574,105 (GRCm39) |
W171R |
probably damaging |
Het |
| Casc3 |
T |
A |
11: 98,712,332 (GRCm39) |
S124T |
probably benign |
Het |
| Casp8ap2 |
T |
C |
4: 32,644,560 (GRCm39) |
V1211A |
probably benign |
Het |
| Ccdc182 |
T |
C |
11: 88,184,962 (GRCm39) |
V14A |
possibly damaging |
Het |
| Ccdc80 |
A |
T |
16: 44,943,275 (GRCm39) |
Q795L |
probably damaging |
Het |
| Ccdc88a |
T |
G |
11: 29,453,480 (GRCm39) |
S1614R |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,822,114 (GRCm39) |
A1170T |
possibly damaging |
Het |
| Clcn6 |
A |
G |
4: 148,095,109 (GRCm39) |
|
probably null |
Het |
| Cubn |
A |
G |
2: 13,313,360 (GRCm39) |
V3070A |
probably benign |
Het |
| Dst |
G |
A |
1: 34,205,372 (GRCm39) |
V1025I |
possibly damaging |
Het |
| Dynlt4 |
A |
G |
4: 116,985,504 (GRCm39) |
E109G |
possibly damaging |
Het |
| Elk3 |
T |
A |
10: 93,101,539 (GRCm39) |
I71F |
probably damaging |
Het |
| Flt3 |
A |
T |
5: 147,306,300 (GRCm39) |
I276N |
probably damaging |
Het |
| Frem1 |
G |
T |
4: 82,831,795 (GRCm39) |
T1988K |
probably benign |
Het |
| Golph3l |
T |
A |
3: 95,524,668 (GRCm39) |
D306E |
probably benign |
Het |
| Grk2 |
T |
A |
19: 4,340,698 (GRCm39) |
I254F |
probably damaging |
Het |
| Hgf |
C |
T |
5: 16,781,919 (GRCm39) |
T214I |
probably benign |
Het |
| Hoxc5 |
C |
A |
15: 102,922,814 (GRCm39) |
|
probably null |
Het |
| Hsd11b1 |
T |
C |
1: 192,922,686 (GRCm39) |
T124A |
probably benign |
Het |
| Ipp |
A |
G |
4: 116,372,565 (GRCm39) |
Y198C |
probably benign |
Het |
| Ism1 |
T |
A |
2: 139,582,047 (GRCm39) |
|
probably null |
Het |
| Klhl42 |
A |
G |
6: 146,993,394 (GRCm39) |
Y122C |
possibly damaging |
Het |
| Klk1b21 |
A |
T |
7: 43,755,418 (GRCm39) |
K206* |
probably null |
Het |
| Lcn11 |
A |
G |
2: 25,668,097 (GRCm39) |
K85R |
probably benign |
Het |
| Macf1 |
G |
T |
4: 123,366,523 (GRCm39) |
A2746E |
probably damaging |
Het |
| Matn4 |
A |
G |
2: 164,242,573 (GRCm39) |
V175A |
probably damaging |
Het |
| Myh2 |
A |
T |
11: 67,082,545 (GRCm39) |
N1372Y |
probably damaging |
Het |
| Ncl |
A |
G |
1: 86,284,677 (GRCm39) |
|
probably null |
Het |
| Nudt2 |
A |
G |
4: 41,480,255 (GRCm39) |
D46G |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,958,000 (GRCm39) |
D3567N |
probably benign |
Het |
| Or1j17 |
G |
C |
2: 36,578,487 (GRCm39) |
V158L |
probably benign |
Het |
| Or2z9 |
G |
T |
8: 72,853,930 (GRCm39) |
V109F |
possibly damaging |
Het |
| Or4a72 |
A |
T |
2: 89,405,305 (GRCm39) |
M255K |
possibly damaging |
Het |
| Pamr1 |
T |
A |
2: 102,464,880 (GRCm39) |
M343K |
probably benign |
Het |
| Pcdh15 |
T |
G |
10: 74,467,025 (GRCm39) |
S1684A |
possibly damaging |
Het |
| Ppm1h |
T |
A |
10: 122,714,433 (GRCm39) |
L324* |
probably null |
Het |
| Ppp3r2 |
T |
C |
4: 49,681,723 (GRCm39) |
I76V |
probably benign |
Het |
| Prkdc |
G |
A |
16: 15,494,873 (GRCm39) |
V748I |
probably benign |
Het |
| Prss47 |
A |
G |
13: 65,199,591 (GRCm39) |
V96A |
probably benign |
Het |
| Rsbn1 |
C |
T |
3: 103,821,789 (GRCm39) |
T8I |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCGGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Serpinb3d |
A |
G |
1: 107,006,182 (GRCm39) |
V302A |
probably benign |
Het |
| Sfrp4 |
A |
T |
13: 19,816,496 (GRCm39) |
I177F |
probably benign |
Het |
| Sh3bp2 |
A |
G |
5: 34,701,569 (GRCm39) |
|
probably benign |
Het |
| Slc7a12 |
A |
G |
3: 14,562,393 (GRCm39) |
T257A |
probably damaging |
Het |
| Spata31e5 |
A |
T |
1: 28,817,234 (GRCm39) |
V266D |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,534,716 (GRCm39) |
T3658A |
probably benign |
Het |
| Styxl2 |
A |
T |
1: 165,928,392 (GRCm39) |
W407R |
probably benign |
Het |
| Tmem30c |
T |
C |
16: 57,101,725 (GRCm39) |
T68A |
probably damaging |
Het |
| Tnr |
A |
G |
1: 159,679,592 (GRCm39) |
I189V |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,790,298 (GRCm39) |
N3586S |
possibly damaging |
Het |
| Usp14 |
T |
C |
18: 10,024,632 (GRCm39) |
T22A |
probably damaging |
Het |
| Vmn1r68 |
A |
G |
7: 10,261,918 (GRCm39) |
L60P |
probably damaging |
Het |
| Vmn2r108 |
G |
A |
17: 20,691,252 (GRCm39) |
H424Y |
probably benign |
Het |
| Wdr81 |
C |
A |
11: 75,336,788 (GRCm39) |
E1534* |
probably null |
Het |
| Zc3h13 |
A |
G |
14: 75,567,635 (GRCm39) |
E976G |
probably damaging |
Het |
| Zfp128 |
T |
C |
7: 12,623,956 (GRCm39) |
L108P |
possibly damaging |
Het |
| Zfp644 |
T |
C |
5: 106,783,548 (GRCm39) |
I1000V |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAACATCTACTCTTGGAAGCCTCTG -3'
(R):5'- GTGTCTTACAGTGGCATATACTCTG -3'
Sequencing Primer
(F):5'- AGTGGTCCAATCTCAACC -3'
(R):5'- AAGTCAGTTCAAGGCCAGTCTGTC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation