Incidental Mutation 'R7682:Specc1l'
| ID |
592831 |
| 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 |
045748-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.560)
|
| Stock # |
R7682 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
75047872-75148234 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75081636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 344
(D344G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040105]
[ENSMUST00000105421]
[ENSMUST00000218766]
[ENSMUST00000219387]
|
| AlphaFold |
Q2KN98 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040105
AA Change: D361G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045099
Gene: ENSMUSG00000033444
AA Change: D361G
| 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: D361G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101061
Gene: ENSMUSG00000033444
AA Change: D361G
| 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: D344G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219387
|
| Meta Mutation Damage Score |
0.1331 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (62/62) |
| 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 |
|---|
| 2310034C09Rik |
T |
A |
16: 88,556,373 (GRCm39) |
S196T |
probably benign |
Het |
| Abcc5 |
T |
C |
16: 20,186,803 (GRCm39) |
D977G |
probably damaging |
Het |
| Acot2 |
T |
C |
12: 84,034,698 (GRCm39) |
V8A |
probably benign |
Het |
| Adamts9 |
T |
A |
6: 92,857,679 (GRCm39) |
I870F |
possibly damaging |
Het |
| Adgrl3 |
G |
A |
5: 81,942,407 (GRCm39) |
V1414I |
probably damaging |
Het |
| Aggf1 |
T |
C |
13: 95,504,934 (GRCm39) |
K275R |
probably benign |
Het |
| Alpk1 |
T |
C |
3: 127,466,195 (GRCm39) |
I1104V |
possibly damaging |
Het |
| Angptl7 |
A |
T |
4: 148,582,539 (GRCm39) |
I119N |
probably damaging |
Het |
| Ank3 |
A |
T |
10: 69,824,065 (GRCm39) |
E129D |
possibly damaging |
Het |
| Brca2 |
T |
A |
5: 150,466,618 (GRCm39) |
H2127Q |
probably benign |
Het |
| Brd4 |
A |
G |
17: 32,420,134 (GRCm39) |
F1008S |
unknown |
Het |
| Car2 |
T |
C |
3: 14,953,025 (GRCm39) |
S56P |
probably damaging |
Het |
| Casp3 |
A |
G |
8: 47,085,420 (GRCm39) |
Y41C |
probably benign |
Het |
| Ces4a |
A |
T |
8: 105,873,297 (GRCm39) |
T381S |
probably benign |
Het |
| Clstn1 |
A |
G |
4: 149,710,558 (GRCm39) |
T77A |
possibly damaging |
Het |
| Cul7 |
G |
T |
17: 46,966,521 (GRCm39) |
V615L |
probably benign |
Het |
| Dnpep |
A |
G |
1: 75,293,384 (GRCm39) |
F24L |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,855,174 (GRCm39) |
|
probably null |
Het |
| Emsy |
G |
A |
7: 98,239,905 (GRCm39) |
R1263W |
probably damaging |
Het |
| Fam124b |
A |
T |
1: 80,191,282 (GRCm39) |
C34S |
possibly damaging |
Het |
| Fan1 |
C |
A |
7: 64,022,512 (GRCm39) |
G247V |
probably benign |
Het |
| Fbxl9 |
C |
A |
8: 106,041,916 (GRCm39) |
R304L |
possibly damaging |
Het |
| Glipr1l3 |
T |
G |
10: 111,977,777 (GRCm39) |
H218P |
probably benign |
Het |
| Gm14305 |
T |
A |
2: 176,412,703 (GRCm39) |
S198R |
probably benign |
Het |
| Gm14326 |
T |
C |
2: 177,590,274 (GRCm39) |
Y29C |
probably damaging |
Het |
| Gm45713 |
C |
T |
7: 44,783,426 (GRCm39) |
V147I |
probably benign |
Het |
| Gpr149 |
C |
T |
3: 62,438,160 (GRCm39) |
D666N |
probably damaging |
Het |
| Gpr183 |
A |
G |
14: 122,192,152 (GRCm39) |
I123T |
possibly damaging |
Het |
| Il7r |
A |
T |
15: 9,513,013 (GRCm39) |
H165Q |
probably damaging |
Het |
| Krt73 |
A |
G |
15: 101,710,480 (GRCm39) |
F85L |
probably benign |
Het |
| Lrrc8d |
A |
G |
5: 105,960,657 (GRCm39) |
T356A |
probably damaging |
Het |
| Marco |
A |
G |
1: 120,421,771 (GRCm39) |
|
probably null |
Het |
| Mettl14 |
T |
A |
3: 123,177,253 (GRCm39) |
E49D |
possibly damaging |
Het |
| Mrap |
T |
A |
16: 90,546,110 (GRCm39) |
|
probably null |
Het |
| Mrps34 |
C |
T |
17: 25,114,852 (GRCm39) |
A152V |
probably benign |
Het |
| Nfasc |
T |
A |
1: 132,501,511 (GRCm39) |
Y1163F |
unknown |
Het |
| Nfic |
T |
C |
10: 81,256,334 (GRCm39) |
D110G |
probably damaging |
Het |
| Nip7 |
T |
C |
8: 107,783,751 (GRCm39) |
V28A |
possibly damaging |
Het |
| Odam |
T |
C |
5: 88,040,287 (GRCm39) |
F251S |
possibly damaging |
Het |
| Olfm5 |
T |
A |
7: 103,810,979 (GRCm39) |
Q53L |
probably null |
Het |
| P2ry13 |
T |
G |
3: 59,117,545 (GRCm39) |
M78L |
probably benign |
Het |
| Pacs1 |
T |
C |
19: 5,202,727 (GRCm39) |
E385G |
probably damaging |
Het |
| Pip5k1b |
C |
T |
19: 24,337,343 (GRCm39) |
G315D |
probably damaging |
Het |
| Pla2g4a |
C |
A |
1: 149,762,022 (GRCm39) |
R145L |
probably damaging |
Het |
| Pramel26 |
A |
G |
4: 143,537,290 (GRCm39) |
L347S |
probably benign |
Het |
| Rars1 |
T |
C |
11: 35,719,579 (GRCm39) |
Q81R |
probably benign |
Het |
| Rassf7 |
A |
G |
7: 140,797,847 (GRCm39) |
N296D |
probably damaging |
Het |
| Rcsd1 |
C |
T |
1: 165,485,262 (GRCm39) |
A94T |
probably benign |
Het |
| Rgs8 |
T |
C |
1: 153,566,668 (GRCm39) |
F73S |
probably damaging |
Het |
| Rilpl2 |
A |
C |
5: 124,616,043 (GRCm39) |
Y36D |
probably damaging |
Het |
| Rpl10l |
A |
G |
12: 66,331,004 (GRCm39) |
V43A |
probably benign |
Het |
| Sesn2 |
T |
C |
4: 132,224,200 (GRCm39) |
I403V |
probably damaging |
Het |
| Slc10a4 |
C |
T |
5: 73,164,453 (GRCm39) |
S15L |
unknown |
Het |
| Slc7a5 |
T |
C |
8: 122,633,879 (GRCm39) |
Y156C |
probably damaging |
Het |
| Spata18 |
A |
G |
5: 73,826,008 (GRCm39) |
H105R |
|
Het |
| Syne1 |
A |
G |
10: 5,112,461 (GRCm39) |
V415A |
probably benign |
Het |
| Thbs4 |
T |
G |
13: 92,912,070 (GRCm39) |
D220A |
probably benign |
Het |
| Tmco5 |
T |
C |
2: 116,716,752 (GRCm39) |
S152P |
probably benign |
Het |
| Tmem35b |
A |
T |
4: 127,022,734 (GRCm39) |
D125V |
probably damaging |
Het |
| Trim17 |
A |
G |
11: 58,857,634 (GRCm39) |
E155G |
possibly damaging |
Het |
| Vmn2r11 |
A |
C |
5: 109,195,481 (GRCm39) |
V615G |
probably benign |
Het |
| Vmn2r88 |
A |
T |
14: 51,655,906 (GRCm39) |
Q705L |
|
Het |
| Vmn2r93 |
A |
G |
17: 18,525,583 (GRCm39) |
R414G |
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,339,193 (GRCm39) |
L478P |
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 |
|
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 |
|
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 |
|
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'- AAAGGACAGGCTCAATGCTTTG -3'
(R):5'- AATCCGTTCTGTCAGGCAAGC -3'
Sequencing Primer
(F):5'- GCTTTTCCCTAGAGCAAAGGC -3'
(R):5'- AGCGACGGACACCTCACTG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation