Incidental Mutation 'R0402:Specc1l'
| ID |
35628 |
| 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 |
038607-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.560)
|
| Stock # |
R0402 (G1)
|
| Quality Score |
210 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
75047872-75148234 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75082260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 552
(E552G)
|
| 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: E569G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045099
Gene: ENSMUSG00000033444
AA Change: E569G
| 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: E569G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101061
Gene: ENSMUSG00000033444
AA Change: E569G
| 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: E552G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218876
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219387
|
| Meta Mutation Damage Score |
0.2368 |
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.0%
- 10x: 94.5%
- 20x: 88.7%
|
| Validation Efficiency |
100% (74/74) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
A |
T |
10: 100,445,115 (GRCm39) |
K165N |
probably damaging |
Het |
| Adam6b |
T |
A |
12: 113,453,615 (GRCm39) |
M144K |
probably damaging |
Het |
| Arhgap44 |
T |
C |
11: 64,922,903 (GRCm39) |
|
probably benign |
Het |
| Arl5c |
T |
A |
11: 97,885,939 (GRCm39) |
I21F |
probably damaging |
Het |
| Bglap2 |
C |
T |
3: 88,285,552 (GRCm39) |
G40D |
probably damaging |
Het |
| Bptf |
T |
C |
11: 106,964,940 (GRCm39) |
E1303G |
probably damaging |
Het |
| Calhm1 |
T |
C |
19: 47,129,896 (GRCm39) |
T209A |
probably damaging |
Het |
| Ccr8 |
A |
G |
9: 119,923,976 (GRCm39) |
|
probably null |
Het |
| Chkb |
C |
T |
15: 89,313,610 (GRCm39) |
R65Q |
probably benign |
Het |
| Col4a1 |
T |
C |
8: 11,249,838 (GRCm39) |
|
probably benign |
Het |
| Cryzl2 |
A |
G |
1: 157,292,014 (GRCm39) |
T98A |
probably benign |
Het |
| D430041D05Rik |
T |
C |
2: 103,998,509 (GRCm39) |
T1080A |
probably damaging |
Het |
| Dhx8 |
C |
A |
11: 101,643,223 (GRCm39) |
T765N |
probably damaging |
Het |
| Dicer1 |
T |
C |
12: 104,697,323 (GRCm39) |
D78G |
probably benign |
Het |
| Drd2 |
A |
G |
9: 49,316,271 (GRCm39) |
I344V |
probably benign |
Het |
| Edil3 |
A |
T |
13: 89,347,570 (GRCm39) |
|
probably benign |
Het |
| Fbxw19 |
C |
T |
9: 109,313,493 (GRCm39) |
G235D |
probably benign |
Het |
| Fzd1 |
T |
C |
5: 4,805,702 (GRCm39) |
K627E |
possibly damaging |
Het |
| Garin1b |
A |
G |
6: 29,323,901 (GRCm39) |
T209A |
probably benign |
Het |
| Garin4 |
T |
C |
1: 190,896,637 (GRCm39) |
D2G |
probably benign |
Het |
| Gm10638 |
A |
G |
8: 87,472,828 (GRCm39) |
|
probably benign |
Het |
| H6pd |
G |
T |
4: 150,080,773 (GRCm39) |
A24E |
probably damaging |
Het |
| Hectd2 |
G |
T |
19: 36,578,929 (GRCm39) |
|
probably null |
Het |
| Hps5 |
A |
G |
7: 46,440,333 (GRCm39) |
|
probably benign |
Het |
| Irx3 |
T |
C |
8: 92,527,296 (GRCm39) |
N136S |
possibly damaging |
Het |
| Kcmf1 |
T |
C |
6: 72,826,568 (GRCm39) |
M1V |
probably null |
Het |
| Klrb1 |
A |
T |
6: 128,687,583 (GRCm39) |
F104I |
probably benign |
Het |
| Lrfn5 |
T |
C |
12: 61,886,803 (GRCm39) |
M197T |
probably benign |
Het |
| Mpdz |
A |
C |
4: 81,279,677 (GRCm39) |
M51R |
possibly damaging |
Het |
| Mtbp |
G |
T |
15: 55,432,466 (GRCm39) |
E258* |
probably null |
Het |
| Mylk3 |
T |
A |
8: 86,079,539 (GRCm39) |
H373L |
probably damaging |
Het |
| Myrfl |
A |
G |
10: 116,664,882 (GRCm39) |
S383P |
probably damaging |
Het |
| Nt5c |
T |
C |
11: 115,381,468 (GRCm39) |
*195W |
probably null |
Het |
| Ocstamp |
A |
G |
2: 165,238,184 (GRCm39) |
V360A |
possibly damaging |
Het |
| Or10ak16 |
A |
T |
4: 118,750,426 (GRCm39) |
I49F |
possibly damaging |
Het |
| Or10al6 |
T |
A |
17: 38,083,284 (GRCm39) |
C247S |
probably damaging |
Het |
| Or4k35 |
A |
G |
2: 111,100,208 (GRCm39) |
F168S |
probably damaging |
Het |
| Or4p19 |
A |
T |
2: 88,242,378 (GRCm39) |
V208D |
probably damaging |
Het |
| Or5an9 |
A |
G |
19: 12,186,953 (GRCm39) |
T8A |
probably damaging |
Het |
| Otop2 |
T |
C |
11: 115,217,234 (GRCm39) |
|
probably benign |
Het |
| Pom121l2 |
A |
T |
13: 22,172,649 (GRCm39) |
|
probably benign |
Het |
| Pon2 |
T |
A |
6: 5,272,410 (GRCm39) |
K137* |
probably null |
Het |
| Ppip5k2 |
T |
A |
1: 97,647,579 (GRCm39) |
Q1049L |
probably benign |
Het |
| Ralgapa2 |
C |
T |
2: 146,276,729 (GRCm39) |
V504M |
probably damaging |
Het |
| Rph3a |
G |
A |
5: 121,080,317 (GRCm39) |
H654Y |
probably damaging |
Het |
| Sh2d1b1 |
T |
C |
1: 170,107,342 (GRCm39) |
|
probably benign |
Het |
| Slc15a2 |
G |
A |
16: 36,595,960 (GRCm39) |
T154I |
probably benign |
Het |
| Slc45a3 |
T |
C |
1: 131,905,265 (GRCm39) |
V96A |
possibly damaging |
Het |
| Slc7a4 |
A |
G |
16: 17,393,497 (GRCm39) |
S101P |
probably damaging |
Het |
| Smco2 |
T |
C |
6: 146,772,633 (GRCm39) |
|
probably benign |
Het |
| Spata2 |
A |
T |
2: 167,325,580 (GRCm39) |
V413E |
probably benign |
Het |
| Sstr5 |
C |
T |
17: 25,711,008 (GRCm39) |
V74M |
probably benign |
Het |
| Timm50 |
G |
A |
7: 28,006,280 (GRCm39) |
R274W |
probably damaging |
Het |
| Tll2 |
A |
G |
19: 41,087,132 (GRCm39) |
V573A |
possibly damaging |
Het |
| Tm7sf3 |
C |
A |
6: 146,507,685 (GRCm39) |
R459M |
possibly damaging |
Het |
| Txk |
A |
G |
5: 72,889,105 (GRCm39) |
|
probably null |
Het |
| Uroc1 |
A |
G |
6: 90,324,284 (GRCm39) |
D436G |
probably damaging |
Het |
| Vmn1r13 |
T |
A |
6: 57,187,083 (GRCm39) |
Y81N |
possibly damaging |
Het |
| Vmn2r19 |
A |
G |
6: 123,313,141 (GRCm39) |
E737G |
probably damaging |
Het |
| Wfs1 |
A |
G |
5: 37,134,324 (GRCm39) |
|
probably benign |
Het |
| Zfp1 |
G |
A |
8: 112,396,875 (GRCm39) |
E285K |
probably damaging |
Het |
| Zfp1005 |
T |
A |
2: 150,111,136 (GRCm39) |
C609S |
possibly damaging |
Het |
| Zfp661 |
G |
A |
2: 127,419,640 (GRCm39) |
Q167* |
probably null |
Het |
| Zswim8 |
T |
C |
14: 20,760,834 (GRCm39) |
F36S |
probably damaging |
Het |
| Zw10 |
A |
G |
9: 48,980,023 (GRCm39) |
T385A |
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCGGCAGATTGAGTATTTCCGTTCC -3'
(R):5'- GGCATCATTTCGGGTATGAGCCAG -3'
Sequencing Primer
(F):5'- GATGAGCATCACATTTCCTATGTC -3'
(R):5'- GGTATGAGCCAGATCTTCCTGC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation