Incidental Mutation 'R2209:Specc1l'
| ID |
239262 |
| 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 |
040211-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.560)
|
| Stock # |
R2209 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
75047872-75148234 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75082410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 619
(D619G)
|
| 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: D619G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045099
Gene: ENSMUSG00000033444
AA Change: D619G
| 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: D619G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101061
Gene: ENSMUSG00000033444
AA Change: D619G
| 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 |
possibly damaging
Transcript: ENSMUST00000218766
AA Change: D602G
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218876
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219387
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
A |
G |
8: 120,884,227 (GRCm39) |
E330G |
possibly damaging |
Het |
| Apob |
A |
C |
12: 8,057,752 (GRCm39) |
D2078A |
probably benign |
Het |
| Arhgap21 |
T |
A |
2: 20,854,331 (GRCm39) |
Q1681L |
probably damaging |
Het |
| Arsb |
A |
G |
13: 93,998,609 (GRCm39) |
T306A |
probably benign |
Het |
| Brpf3 |
G |
A |
17: 29,047,394 (GRCm39) |
D1053N |
probably damaging |
Het |
| Cenpf |
A |
T |
1: 189,384,795 (GRCm39) |
I2495N |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,599,634 (GRCm39) |
K840E |
possibly damaging |
Het |
| Cry1 |
A |
G |
10: 84,982,619 (GRCm39) |
L269P |
probably damaging |
Het |
| Cyp21a1 |
C |
A |
17: 35,021,701 (GRCm39) |
E289* |
probably null |
Het |
| Dcp2 |
A |
T |
18: 44,538,581 (GRCm39) |
K215* |
probably null |
Het |
| Dnaaf11 |
A |
G |
15: 66,321,400 (GRCm39) |
I247T |
probably benign |
Het |
| Ecm2 |
A |
G |
13: 49,683,632 (GRCm39) |
N537D |
probably damaging |
Het |
| Emid1 |
G |
A |
11: 5,085,407 (GRCm39) |
T113M |
probably benign |
Het |
| Exoc8 |
C |
T |
8: 125,622,918 (GRCm39) |
W483* |
probably null |
Het |
| Fes |
A |
T |
7: 80,030,031 (GRCm39) |
N582K |
probably damaging |
Het |
| Flnb |
G |
T |
14: 7,905,507 (GRCm38) |
E1086* |
probably null |
Het |
| Flnc |
T |
A |
6: 29,455,844 (GRCm39) |
D2058E |
possibly damaging |
Het |
| Gatb |
G |
A |
3: 85,561,112 (GRCm39) |
D543N |
probably benign |
Het |
| Gm14412 |
A |
G |
2: 177,009,229 (GRCm39) |
V9A |
probably damaging |
Het |
| Gm4884 |
T |
C |
7: 40,692,745 (GRCm39) |
V238A |
possibly damaging |
Het |
| Igfbp5 |
A |
G |
1: 72,913,096 (GRCm39) |
V68A |
possibly damaging |
Het |
| Igflr1 |
T |
A |
7: 30,267,222 (GRCm39) |
I330N |
probably damaging |
Het |
| Il1r2 |
A |
G |
1: 40,154,298 (GRCm39) |
T222A |
probably benign |
Het |
| Krt87 |
T |
C |
15: 101,330,989 (GRCm39) |
E419G |
probably benign |
Het |
| Lman2 |
A |
G |
13: 55,499,315 (GRCm39) |
S187P |
probably damaging |
Het |
| Mrpl38 |
T |
C |
11: 116,029,288 (GRCm39) |
E76G |
possibly damaging |
Het |
| Mtx3 |
A |
G |
13: 92,984,112 (GRCm39) |
I130V |
probably benign |
Het |
| Naf1 |
T |
G |
8: 67,313,188 (GRCm39) |
|
probably benign |
Het |
| Nkx2-1 |
T |
G |
12: 56,580,293 (GRCm39) |
M216L |
probably benign |
Het |
| Notch1 |
C |
A |
2: 26,350,019 (GRCm39) |
V2374L |
probably benign |
Het |
| Nrxn2 |
A |
G |
19: 6,543,037 (GRCm39) |
D1087G |
probably benign |
Het |
| Nudt8 |
T |
C |
19: 4,051,902 (GRCm39) |
F171S |
probably damaging |
Het |
| Or5an1 |
T |
G |
19: 12,261,224 (GRCm39) |
F271V |
probably benign |
Het |
| Pds5a |
A |
T |
5: 65,785,357 (GRCm39) |
C916* |
probably null |
Het |
| Phyhip |
A |
T |
14: 70,699,334 (GRCm39) |
N46Y |
probably damaging |
Het |
| Pomt1 |
A |
G |
2: 32,140,874 (GRCm39) |
Y502C |
possibly damaging |
Het |
| Prkcg |
A |
C |
7: 3,352,097 (GRCm39) |
|
probably benign |
Het |
| Prl8a6 |
C |
T |
13: 27,619,369 (GRCm39) |
E118K |
probably benign |
Het |
| Prpf39 |
T |
C |
12: 65,104,689 (GRCm39) |
|
probably null |
Het |
| Ptprb |
A |
G |
10: 116,205,262 (GRCm39) |
H2159R |
probably damaging |
Het |
| Ripor2 |
A |
T |
13: 24,885,595 (GRCm39) |
D571V |
probably damaging |
Het |
| Rps19 |
C |
T |
7: 24,584,552 (GRCm39) |
L34F |
probably benign |
Het |
| Rusc1 |
A |
G |
3: 88,996,128 (GRCm39) |
S145P |
probably damaging |
Het |
| Scn4a |
T |
A |
11: 106,230,051 (GRCm39) |
T586S |
probably damaging |
Het |
| Slc7a12 |
A |
G |
3: 14,546,124 (GRCm39) |
S90G |
possibly damaging |
Het |
| Src |
A |
G |
2: 157,304,710 (GRCm39) |
D143G |
probably benign |
Het |
| Sst |
T |
C |
16: 23,708,558 (GRCm39) |
N91S |
probably benign |
Het |
| Stxbp5l |
T |
A |
16: 37,036,398 (GRCm39) |
I406F |
probably damaging |
Het |
| Thsd1 |
T |
A |
8: 22,748,887 (GRCm39) |
I525N |
probably damaging |
Het |
| Ticam2 |
A |
T |
18: 46,693,467 (GRCm39) |
F207I |
probably damaging |
Het |
| Tsc22d1 |
C |
A |
14: 76,656,180 (GRCm39) |
N31K |
probably damaging |
Het |
| Tspan10 |
T |
C |
11: 120,336,989 (GRCm39) |
V253A |
probably benign |
Het |
| Ttc33 |
A |
G |
15: 5,237,924 (GRCm39) |
K99R |
possibly damaging |
Het |
| Vmn1r63 |
T |
A |
7: 5,806,212 (GRCm39) |
N140I |
probably damaging |
Het |
| Yju2b |
C |
T |
8: 84,990,498 (GRCm39) |
V45I |
probably benign |
Het |
| Zbtb25 |
A |
G |
12: 76,395,903 (GRCm39) |
*440Q |
probably null |
Het |
| Zfhx4 |
T |
A |
3: 5,461,978 (GRCm39) |
C1218S |
probably damaging |
Het |
| Zfp84 |
T |
A |
7: 29,476,607 (GRCm39) |
I433N |
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 |
|
|
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'- GCTCAAGAAATGATAGGTGCCC -3'
(R):5'- CCACATGGCAGCTGTATAAAC -3'
Sequencing Primer
(F):5'- TGATAGGTGCCCTCAAAGAGC -3'
(R):5'- CATGGCAGCTGTATAAACTAAACAAG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation