Incidental Mutation 'R0557:Cemip2'
| ID |
45687 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cemip2
|
| Ensembl Gene |
ENSMUSG00000024754 |
| Gene Name |
cell migration inducing hyaluronidase 2 |
| Synonyms |
3110012M15Rik, Tmem2 |
| MMRRC Submission |
038749-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.773)
|
| Stock # |
R0557 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
21755706-21835724 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 21789267 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 567
(A567V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093908
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025663]
[ENSMUST00000096194]
|
| AlphaFold |
Q5FWI3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025663
AA Change: A567V
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000025663
Gene: ENSMUSG00000024754
AA Change: A567V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
83 |
105 |
N/A |
INTRINSIC |
|
G8
|
121 |
245 |
1.89e-44 |
SMART |
|
Pfam:ILEI
|
265 |
360 |
2.1e-24 |
PFAM |
|
Blast:PbH1
|
587 |
609 |
1e-6 |
BLAST |
|
low complexity region
|
621 |
633 |
N/A |
INTRINSIC |
|
PbH1
|
669 |
691 |
3.62e3 |
SMART |
|
PbH1
|
711 |
733 |
1.84e3 |
SMART |
|
PbH1
|
791 |
812 |
1.33e3 |
SMART |
|
Pfam:ILEI
|
1243 |
1333 |
9e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096194
AA Change: A567V
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000093908
Gene: ENSMUSG00000024754
AA Change: A567V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
83 |
105 |
N/A |
INTRINSIC |
|
G8
|
121 |
245 |
1.89e-44 |
SMART |
|
Blast:PbH1
|
587 |
609 |
1e-6 |
BLAST |
|
low complexity region
|
621 |
633 |
N/A |
INTRINSIC |
|
PbH1
|
669 |
691 |
3.62e3 |
SMART |
|
PbH1
|
711 |
733 |
1.84e3 |
SMART |
|
PbH1
|
791 |
812 |
1.33e3 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
G |
A |
10: 78,903,519 (GRCm39) |
H266Y |
probably damaging |
Het |
| Abi3bp |
C |
T |
16: 56,488,750 (GRCm39) |
R1294C |
probably damaging |
Het |
| Acot3 |
T |
C |
12: 84,105,630 (GRCm39) |
Y366H |
probably damaging |
Het |
| Ago1 |
A |
G |
4: 126,353,817 (GRCm39) |
V254A |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,979,308 (GRCm39) |
D197E |
probably benign |
Het |
| Aldh1b1 |
A |
T |
4: 45,802,647 (GRCm39) |
T62S |
probably benign |
Het |
| Alox12e |
T |
C |
11: 70,212,274 (GRCm39) |
R135G |
possibly damaging |
Het |
| Amn1 |
T |
C |
6: 149,072,503 (GRCm39) |
Y78C |
possibly damaging |
Het |
| Ankmy2 |
G |
A |
12: 36,237,765 (GRCm39) |
S288N |
probably benign |
Het |
| Ano3 |
A |
T |
2: 110,693,297 (GRCm39) |
|
probably null |
Het |
| Arfgap3 |
T |
C |
15: 83,187,386 (GRCm39) |
D491G |
probably damaging |
Het |
| Arhgap15 |
T |
C |
2: 44,006,629 (GRCm39) |
S249P |
possibly damaging |
Het |
| Atp9b |
A |
G |
18: 80,809,137 (GRCm39) |
V211A |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,562,751 (GRCm39) |
Y12H |
probably damaging |
Het |
| Cdkn2aip |
T |
C |
8: 48,165,977 (GRCm39) |
T110A |
probably damaging |
Het |
| Chchd6 |
A |
G |
6: 89,551,569 (GRCm39) |
S31P |
probably damaging |
Het |
| Chrna3 |
A |
G |
9: 54,923,149 (GRCm39) |
Y220H |
probably damaging |
Het |
| Ctu1 |
A |
G |
7: 43,326,583 (GRCm39) |
D414G |
unknown |
Het |
| Cxxc1 |
C |
T |
18: 74,351,845 (GRCm39) |
R241W |
possibly damaging |
Het |
| Cyp3a16 |
A |
G |
5: 145,406,398 (GRCm39) |
I18T |
unknown |
Het |
| Dip2c |
A |
T |
13: 9,603,495 (GRCm39) |
I405F |
possibly damaging |
Het |
| Disp3 |
A |
T |
4: 148,325,861 (GRCm39) |
M1299K |
possibly damaging |
Het |
| Dnah9 |
T |
G |
11: 65,975,492 (GRCm39) |
H1519P |
probably damaging |
Het |
| Ehd3 |
C |
A |
17: 74,136,928 (GRCm39) |
Q366K |
probably benign |
Het |
| Exosc3 |
A |
T |
4: 45,316,957 (GRCm39) |
M232K |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,165,216 (GRCm39) |
|
probably null |
Het |
| Fgfr2 |
A |
G |
7: 129,820,811 (GRCm39) |
V241A |
probably damaging |
Het |
| Gdf2 |
C |
T |
14: 33,663,178 (GRCm39) |
P24L |
probably damaging |
Het |
| Hars2 |
T |
C |
18: 36,924,130 (GRCm39) |
I489T |
possibly damaging |
Het |
| Ice1 |
T |
C |
13: 70,749,310 (GRCm39) |
I1945V |
probably benign |
Het |
| Il33 |
A |
C |
19: 29,932,036 (GRCm39) |
N143T |
probably damaging |
Het |
| Ilvbl |
G |
A |
10: 78,419,321 (GRCm39) |
W313* |
probably null |
Het |
| Insyn2a |
A |
G |
7: 134,520,434 (GRCm39) |
L32P |
probably damaging |
Het |
| Isca1 |
G |
T |
13: 59,904,788 (GRCm39) |
Q91K |
possibly damaging |
Het |
| Kcnh5 |
T |
A |
12: 75,161,323 (GRCm39) |
Y195F |
probably damaging |
Het |
| Lama4 |
T |
G |
10: 38,964,393 (GRCm39) |
I1355S |
probably benign |
Het |
| Lonrf1 |
T |
C |
8: 36,697,574 (GRCm39) |
D470G |
probably benign |
Het |
| Mak |
A |
G |
13: 41,193,135 (GRCm39) |
Y446H |
probably benign |
Het |
| Mki67 |
C |
T |
7: 135,300,990 (GRCm39) |
S1348N |
possibly damaging |
Het |
| Mpzl3 |
A |
G |
9: 44,977,806 (GRCm39) |
Y138C |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,192,624 (GRCm39) |
L1501P |
possibly damaging |
Het |
| Naa35 |
A |
G |
13: 59,775,778 (GRCm39) |
E552G |
probably damaging |
Het |
| Ncor2 |
A |
T |
5: 125,183,369 (GRCm39) |
L200* |
probably null |
Het |
| Nrm |
T |
C |
17: 36,175,524 (GRCm39) |
V210A |
probably damaging |
Het |
| Nt5e |
T |
A |
9: 88,248,519 (GRCm39) |
N405K |
probably damaging |
Het |
| Or1j4 |
T |
A |
2: 36,740,760 (GRCm39) |
I234N |
possibly damaging |
Het |
| Or1o11 |
T |
A |
17: 37,756,712 (GRCm39) |
I100N |
probably damaging |
Het |
| Orc2 |
T |
C |
1: 58,508,846 (GRCm39) |
S434G |
probably damaging |
Het |
| Plcb4 |
G |
A |
2: 135,796,269 (GRCm39) |
V388I |
probably damaging |
Het |
| Ppm1l |
A |
G |
3: 69,405,234 (GRCm39) |
D177G |
probably benign |
Het |
| Prl8a2 |
A |
T |
13: 27,536,875 (GRCm39) |
R165* |
probably null |
Het |
| Ptbp3 |
G |
A |
4: 59,517,684 (GRCm39) |
R66* |
probably null |
Het |
| Pten |
A |
G |
19: 32,795,290 (GRCm39) |
T286A |
probably benign |
Het |
| Rac2 |
C |
T |
15: 78,449,174 (GRCm39) |
V113M |
probably damaging |
Het |
| Rai1 |
C |
T |
11: 60,081,321 (GRCm39) |
T1795I |
probably benign |
Het |
| Ros1 |
T |
G |
10: 51,961,359 (GRCm39) |
K1792Q |
possibly damaging |
Het |
| Sema6a |
A |
G |
18: 47,382,567 (GRCm39) |
V660A |
probably benign |
Het |
| Slc22a23 |
C |
T |
13: 34,528,366 (GRCm39) |
G139S |
possibly damaging |
Het |
| Slc26a5 |
A |
G |
5: 22,024,762 (GRCm39) |
S441P |
probably damaging |
Het |
| Slc27a3 |
A |
G |
3: 90,294,163 (GRCm39) |
L462P |
probably damaging |
Het |
| Spag5 |
T |
A |
11: 78,205,037 (GRCm39) |
S607R |
probably damaging |
Het |
| Spata18 |
A |
T |
5: 73,809,013 (GRCm39) |
N29Y |
probably damaging |
Het |
| Spata20 |
C |
T |
11: 94,376,048 (GRCm39) |
R22H |
probably benign |
Het |
| Spsb2 |
A |
C |
6: 124,787,355 (GRCm39) |
Y263S |
probably damaging |
Het |
| Sptbn4 |
C |
A |
7: 27,107,753 (GRCm39) |
E885* |
probably null |
Het |
| Syne2 |
T |
C |
12: 75,976,075 (GRCm39) |
I1175T |
probably benign |
Het |
| Tmem209 |
A |
C |
6: 30,501,913 (GRCm39) |
H253Q |
probably damaging |
Het |
| Trip12 |
A |
T |
1: 84,702,468 (GRCm39) |
D788E |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,353,848 (GRCm39) |
S1509P |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,584,173 (GRCm39) |
D2661E |
probably damaging |
Het |
| Vars1 |
C |
A |
17: 35,223,960 (GRCm39) |
P264Q |
possibly damaging |
Het |
| Vmn2r66 |
T |
G |
7: 84,643,972 (GRCm39) |
S813R |
probably damaging |
Het |
| Wipf2 |
C |
A |
11: 98,782,915 (GRCm39) |
Q114K |
possibly damaging |
Het |
| Wnt5b |
G |
T |
6: 119,410,779 (GRCm39) |
H220Q |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,346,695 (GRCm39) |
T2979A |
probably benign |
Het |
| Zfyve9 |
A |
G |
4: 108,531,708 (GRCm39) |
V408A |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,808,556 (GRCm39) |
S2744P |
probably damaging |
Het |
|
| Other mutations in Cemip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01319:Cemip2
|
APN |
19 |
21,822,121 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01528:Cemip2
|
APN |
19 |
21,812,909 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01642:Cemip2
|
APN |
19 |
21,801,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01693:Cemip2
|
APN |
19 |
21,779,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02437:Cemip2
|
APN |
19 |
21,789,342 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02869:Cemip2
|
APN |
19 |
21,789,241 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02880:Cemip2
|
APN |
19 |
21,801,207 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02904:Cemip2
|
APN |
19 |
21,801,207 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02941:Cemip2
|
APN |
19 |
21,801,207 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02950:Cemip2
|
APN |
19 |
21,819,564 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03066:Cemip2
|
APN |
19 |
21,801,207 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL03120:Cemip2
|
APN |
19 |
21,801,207 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0005:Cemip2
|
UTSW |
19 |
21,789,584 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0496:Cemip2
|
UTSW |
19 |
21,774,709 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0620:Cemip2
|
UTSW |
19 |
21,795,335 (GRCm39) |
missense |
probably benign |
|
|
R1271:Cemip2
|
UTSW |
19 |
21,801,268 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1435:Cemip2
|
UTSW |
19 |
21,822,070 (GRCm39) |
missense |
probably benign |
|
|
R1543:Cemip2
|
UTSW |
19 |
21,789,937 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1558:Cemip2
|
UTSW |
19 |
21,775,346 (GRCm39) |
nonsense |
probably null |
|
|
R1658:Cemip2
|
UTSW |
19 |
21,779,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1744:Cemip2
|
UTSW |
19 |
21,809,501 (GRCm39) |
nonsense |
probably null |
|
|
R1859:Cemip2
|
UTSW |
19 |
21,825,341 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1943:Cemip2
|
UTSW |
19 |
21,825,404 (GRCm39) |
splice site |
probably null |
|
|
R2001:Cemip2
|
UTSW |
19 |
21,779,351 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2021:Cemip2
|
UTSW |
19 |
21,822,114 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2177:Cemip2
|
UTSW |
19 |
21,789,149 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2183:Cemip2
|
UTSW |
19 |
21,801,157 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2921:Cemip2
|
UTSW |
19 |
21,795,303 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2922:Cemip2
|
UTSW |
19 |
21,795,303 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2923:Cemip2
|
UTSW |
19 |
21,795,303 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3727:Cemip2
|
UTSW |
19 |
21,822,075 (GRCm39) |
missense |
probably benign |
|
|
R3730:Cemip2
|
UTSW |
19 |
21,803,481 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3790:Cemip2
|
UTSW |
19 |
21,784,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3831:Cemip2
|
UTSW |
19 |
21,825,315 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3858:Cemip2
|
UTSW |
19 |
21,829,598 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3859:Cemip2
|
UTSW |
19 |
21,829,598 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3899:Cemip2
|
UTSW |
19 |
21,829,598 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4096:Cemip2
|
UTSW |
19 |
21,770,016 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R4206:Cemip2
|
UTSW |
19 |
21,819,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4480:Cemip2
|
UTSW |
19 |
21,792,853 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4667:Cemip2
|
UTSW |
19 |
21,822,145 (GRCm39) |
missense |
probably benign |
|
|
R4667:Cemip2
|
UTSW |
19 |
21,774,715 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4888:Cemip2
|
UTSW |
19 |
21,833,528 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4914:Cemip2
|
UTSW |
19 |
21,786,653 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5030:Cemip2
|
UTSW |
19 |
21,819,469 (GRCm39) |
missense |
probably benign |
|
|
R5329:Cemip2
|
UTSW |
19 |
21,775,693 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5977:Cemip2
|
UTSW |
19 |
21,803,447 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6013:Cemip2
|
UTSW |
19 |
21,809,403 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6049:Cemip2
|
UTSW |
19 |
21,803,490 (GRCm39) |
missense |
probably benign |
|
|
R6199:Cemip2
|
UTSW |
19 |
21,822,186 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6215:Cemip2
|
UTSW |
19 |
21,789,751 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6273:Cemip2
|
UTSW |
19 |
21,779,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6429:Cemip2
|
UTSW |
19 |
21,779,272 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6547:Cemip2
|
UTSW |
19 |
21,822,195 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6630:Cemip2
|
UTSW |
19 |
21,829,593 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6870:Cemip2
|
UTSW |
19 |
21,809,487 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7276:Cemip2
|
UTSW |
19 |
21,812,824 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7336:Cemip2
|
UTSW |
19 |
21,803,509 (GRCm39) |
nonsense |
probably null |
|
|
R7363:Cemip2
|
UTSW |
19 |
21,833,575 (GRCm39) |
missense |
probably benign |
|
|
R7678:Cemip2
|
UTSW |
19 |
21,775,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7727:Cemip2
|
UTSW |
19 |
21,807,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7820:Cemip2
|
UTSW |
19 |
21,784,825 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7837:Cemip2
|
UTSW |
19 |
21,775,385 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7859:Cemip2
|
UTSW |
19 |
21,809,539 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7954:Cemip2
|
UTSW |
19 |
21,770,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7964:Cemip2
|
UTSW |
19 |
21,775,794 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8058:Cemip2
|
UTSW |
19 |
21,829,695 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8251:Cemip2
|
UTSW |
19 |
21,784,765 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8746:Cemip2
|
UTSW |
19 |
21,803,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8820:Cemip2
|
UTSW |
19 |
21,784,818 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8931:Cemip2
|
UTSW |
19 |
21,770,323 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9022:Cemip2
|
UTSW |
19 |
21,789,986 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9354:Cemip2
|
UTSW |
19 |
21,779,389 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9480:Cemip2
|
UTSW |
19 |
21,775,622 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9495:Cemip2
|
UTSW |
19 |
21,779,249 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9593:Cemip2
|
UTSW |
19 |
21,803,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9705:Cemip2
|
UTSW |
19 |
21,784,788 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9740:Cemip2
|
UTSW |
19 |
21,822,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Cemip2
|
UTSW |
19 |
21,833,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGCCCTGAAAAGGATTCATTTTGTC -3'
(R):5'- GCAATGACCTAGTGTGTCGAAGCC -3'
Sequencing Primer
(F):5'- TCATTTTGTCTTGCAGATAGAGAAG -3'
(R):5'- CTAGTGTGTCGAAGCCAATGG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation