Incidental Mutation 'R7640:Specc1l'
| ID |
590197 |
| 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 |
045698-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.560)
|
| Stock # |
R7640 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
75047872-75148234 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75093703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 717
(N717K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040105]
[ENSMUST00000105421]
[ENSMUST00000218766]
|
| AlphaFold |
Q2KN98 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040105
AA Change: N734K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045099
Gene: ENSMUSG00000033444
AA Change: N734K
| 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: N734K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101061
Gene: ENSMUSG00000033444
AA Change: N734K
| 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: N717K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
99% (68/69) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
A |
T |
4: 137,181,905 (GRCm39) |
N20I |
probably damaging |
Het |
| 4930558K02Rik |
A |
G |
1: 161,784,718 (GRCm39) |
S74P |
probably benign |
Het |
| Abcb6 |
A |
T |
1: 75,151,489 (GRCm39) |
|
probably null |
Het |
| Adamts14 |
C |
A |
10: 61,081,836 (GRCm39) |
A234S |
probably benign |
Het |
| Ankrd42 |
A |
G |
7: 92,268,843 (GRCm39) |
S167P |
probably benign |
Het |
| Ap3m1 |
T |
C |
14: 21,088,243 (GRCm39) |
I272V |
probably benign |
Het |
| Armt1 |
T |
C |
10: 4,403,572 (GRCm39) |
F219S |
probably damaging |
Het |
| Atr |
T |
G |
9: 95,789,346 (GRCm39) |
|
probably null |
Het |
| Cep72 |
G |
A |
13: 74,206,607 (GRCm39) |
Q72* |
probably null |
Het |
| Clock |
G |
T |
5: 76,396,225 (GRCm39) |
L175M |
possibly damaging |
Het |
| Cnmd |
T |
A |
14: 79,898,974 (GRCm39) |
Y26F |
possibly damaging |
Het |
| Col6a6 |
A |
T |
9: 105,662,943 (GRCm39) |
M198K |
possibly damaging |
Het |
| Cuta |
C |
T |
17: 27,157,396 (GRCm39) |
V135I |
probably benign |
Het |
| Ddx41 |
A |
T |
13: 55,682,052 (GRCm39) |
M241K |
possibly damaging |
Het |
| Dnajc22 |
A |
G |
15: 98,998,995 (GRCm39) |
N60S |
probably damaging |
Het |
| Drc3 |
A |
G |
11: 60,279,730 (GRCm39) |
M432V |
probably benign |
Het |
| Dync2i2 |
T |
G |
2: 29,921,780 (GRCm39) |
D527A |
probably benign |
Het |
| Eef1d |
C |
A |
15: 75,774,556 (GRCm39) |
G368C |
probably damaging |
Het |
| En2 |
A |
T |
5: 28,375,164 (GRCm39) |
K236* |
probably null |
Het |
| Fas |
A |
G |
19: 34,284,564 (GRCm39) |
T24A |
possibly damaging |
Het |
| Golga2 |
T |
C |
2: 32,196,251 (GRCm39) |
V930A |
probably benign |
Het |
| Gprin2 |
G |
T |
14: 33,917,710 (GRCm39) |
A20D |
probably benign |
Het |
| Ighv14-4 |
A |
T |
12: 114,140,064 (GRCm39) |
C115* |
probably null |
Het |
| Impdh2 |
T |
C |
9: 108,442,380 (GRCm39) |
Y459H |
possibly damaging |
Het |
| Klhdc7b |
G |
T |
15: 89,271,463 (GRCm39) |
V124L |
possibly damaging |
Het |
| L2hgdh |
A |
T |
12: 69,768,131 (GRCm39) |
Y122* |
probably null |
Het |
| Lamc2 |
A |
T |
1: 153,012,550 (GRCm39) |
I708N |
possibly damaging |
Het |
| Large2 |
T |
C |
2: 92,205,050 (GRCm39) |
M1V |
probably null |
Het |
| Lrit2 |
T |
C |
14: 36,794,081 (GRCm39) |
W382R |
probably damaging |
Het |
| Mcee |
T |
A |
7: 64,061,716 (GRCm39) |
V173E |
probably damaging |
Het |
| Mcph1 |
T |
A |
8: 18,682,342 (GRCm39) |
V493E |
probably benign |
Het |
| Mfap4 |
A |
G |
11: 61,377,913 (GRCm39) |
N118D |
probably damaging |
Het |
| Mknk2 |
T |
C |
10: 80,504,400 (GRCm39) |
S301G |
probably benign |
Het |
| Mlf1 |
G |
A |
3: 67,300,266 (GRCm39) |
M94I |
possibly damaging |
Het |
| Mrc2 |
T |
A |
11: 105,223,121 (GRCm39) |
S455T |
possibly damaging |
Het |
| Mrgprb5 |
T |
G |
7: 47,818,007 (GRCm39) |
I243L |
probably benign |
Het |
| Muc4 |
C |
A |
16: 32,580,479 (GRCm39) |
P360T |
|
Het |
| Nat10 |
G |
A |
2: 103,573,435 (GRCm39) |
A354V |
probably damaging |
Het |
| Nscme3l |
T |
A |
19: 5,553,035 (GRCm39) |
S249C |
probably damaging |
Het |
| Nts |
T |
C |
10: 102,326,165 (GRCm39) |
Q7R |
possibly damaging |
Het |
| Oas1b |
T |
C |
5: 120,959,479 (GRCm39) |
L288P |
probably damaging |
Het |
| Or4a66 |
T |
A |
2: 88,531,230 (GRCm39) |
I148L |
probably benign |
Het |
| Or51k2 |
A |
T |
7: 103,596,150 (GRCm39) |
I126F |
probably damaging |
Het |
| Or5w11 |
A |
G |
2: 87,459,436 (GRCm39) |
I94V |
probably benign |
Het |
| Or8k30 |
A |
G |
2: 86,339,287 (GRCm39) |
I161M |
possibly damaging |
Het |
| Otoa |
A |
G |
7: 120,744,849 (GRCm39) |
E869G |
probably damaging |
Het |
| Pcdhac2 |
T |
C |
18: 37,277,578 (GRCm39) |
L186P |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,918,204 (GRCm39) |
E1271G |
possibly damaging |
Het |
| Pmepa1 |
C |
T |
2: 173,117,956 (GRCm39) |
A8T |
probably benign |
Het |
| Pramel24 |
T |
C |
4: 143,453,276 (GRCm39) |
V128A |
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,267,861 (GRCm39) |
|
probably null |
Het |
| Rlf |
T |
A |
4: 121,003,998 (GRCm39) |
M1771L |
possibly damaging |
Het |
| Rpap1 |
G |
A |
2: 119,594,891 (GRCm39) |
P1372L |
possibly damaging |
Het |
| Rragd |
A |
T |
4: 32,983,527 (GRCm39) |
D22V |
probably benign |
Het |
| Sema3f |
A |
T |
9: 107,560,774 (GRCm39) |
S644R |
probably benign |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Spata31h1 |
T |
A |
10: 82,130,490 (GRCm39) |
N840I |
probably damaging |
Het |
| Sphkap |
C |
T |
1: 83,256,649 (GRCm39) |
D367N |
possibly damaging |
Het |
| Tbc1d21 |
C |
T |
9: 58,268,544 (GRCm39) |
V272M |
probably damaging |
Het |
| Tlcd4 |
A |
G |
3: 121,028,690 (GRCm39) |
|
probably null |
Het |
| Tmem132c |
A |
G |
5: 127,640,070 (GRCm39) |
D747G |
probably damaging |
Het |
| Trim2 |
C |
A |
3: 84,098,213 (GRCm39) |
V372F |
probably benign |
Het |
| Ttc34 |
A |
G |
4: 154,945,841 (GRCm39) |
T292A |
probably benign |
Het |
| Ube3b |
A |
G |
5: 114,553,384 (GRCm39) |
T919A |
probably benign |
Het |
| Zfhx4 |
T |
C |
3: 5,477,540 (GRCm39) |
I3385T |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,507,905 (GRCm39) |
K813R |
probably damaging |
Het |
| Zfp850 |
T |
C |
7: 27,688,634 (GRCm39) |
T525A |
probably benign |
Het |
| Zfp873 |
T |
C |
10: 81,896,109 (GRCm39) |
I280T |
possibly damaging |
Het |
| Zkscan7 |
A |
G |
9: 122,725,121 (GRCm39) |
T697A |
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 |
|
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 |
|
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'- TGTTTCCAACAATTGCTTCCAG -3'
(R):5'- GTGTGGCTGATATCCTACCCTATC -3'
Sequencing Primer
(F):5'- ATGATGCAGAAACTGTAGTCTTGG -3'
(R):5'- GGCTGATATCCTACCCTATCTACAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation