Incidental Mutation 'R0620:Cemip2'
ID |
58641 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cemip2
|
Ensembl Gene |
ENSMUSG00000024754 |
Gene Name |
cell migration inducing hyaluronidase 2 |
Synonyms |
3110012M15Rik, Tmem2 |
MMRRC Submission |
038809-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.773)
|
Stock # |
R0620 (G1)
|
Quality Score |
218 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
21755706-21835724 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 21795335 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 743
(S743T)
|
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: S743T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000025663 Gene: ENSMUSG00000024754 AA Change: S743T
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: S743T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000093908 Gene: ENSMUSG00000024754 AA Change: S743T
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.1%
|
Validation Efficiency |
100% (74/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts9 |
T |
C |
6: 92,835,094 (GRCm39) |
T679A |
possibly damaging |
Het |
Ahr |
T |
C |
12: 35,558,193 (GRCm39) |
T276A |
probably benign |
Het |
Akap9 |
A |
T |
5: 4,114,136 (GRCm39) |
Q3138H |
probably damaging |
Het |
Armt1 |
T |
A |
10: 4,382,689 (GRCm39) |
F7I |
probably benign |
Het |
B3galt2 |
A |
G |
1: 143,521,878 (GRCm39) |
R5G |
probably damaging |
Het |
Bod1l |
T |
C |
5: 41,958,576 (GRCm39) |
N2750S |
probably benign |
Het |
Cadps2 |
T |
A |
6: 23,583,395 (GRCm39) |
E365V |
probably damaging |
Het |
Cd200r3 |
T |
A |
16: 44,778,080 (GRCm39) |
|
probably null |
Het |
Cst7 |
T |
A |
2: 150,417,806 (GRCm39) |
|
probably benign |
Het |
Defb30 |
A |
T |
14: 63,287,212 (GRCm39) |
|
probably benign |
Het |
Dido1 |
C |
T |
2: 180,301,644 (GRCm39) |
G2087S |
probably benign |
Het |
Dio2 |
A |
G |
12: 90,704,845 (GRCm39) |
Y72H |
probably benign |
Het |
Dnah11 |
C |
T |
12: 117,951,204 (GRCm39) |
E3035K |
probably damaging |
Het |
Dnajb13 |
T |
C |
7: 100,152,456 (GRCm39) |
K287E |
possibly damaging |
Het |
Dnajc11 |
G |
A |
4: 152,058,085 (GRCm39) |
V244I |
possibly damaging |
Het |
Ect2 |
C |
T |
3: 27,193,801 (GRCm39) |
A226T |
probably damaging |
Het |
Ercc8 |
G |
A |
13: 108,310,595 (GRCm39) |
|
probably null |
Het |
Fam120b |
T |
A |
17: 15,623,189 (GRCm39) |
M389K |
probably benign |
Het |
Fam151a |
A |
G |
4: 106,605,128 (GRCm39) |
M497V |
probably benign |
Het |
Fam186b |
C |
A |
15: 99,178,009 (GRCm39) |
G439V |
probably benign |
Het |
Fank1 |
A |
G |
7: 133,478,494 (GRCm39) |
Y185C |
probably damaging |
Het |
Gart |
T |
C |
16: 91,427,490 (GRCm39) |
|
probably benign |
Het |
Glb1l |
T |
C |
1: 75,176,364 (GRCm39) |
Y572C |
probably damaging |
Het |
Gm11563 |
C |
T |
11: 99,549,263 (GRCm39) |
A164T |
unknown |
Het |
Gnb4 |
C |
T |
3: 32,645,356 (GRCm39) |
V112I |
probably benign |
Het |
Gsdmc3 |
T |
A |
15: 63,731,542 (GRCm39) |
D330V |
probably damaging |
Het |
H2-DMa |
C |
T |
17: 34,356,934 (GRCm39) |
T144M |
probably damaging |
Het |
Haus6 |
A |
T |
4: 86,501,751 (GRCm39) |
F707I |
possibly damaging |
Het |
Hmcn1 |
T |
A |
1: 150,469,767 (GRCm39) |
T4971S |
probably benign |
Het |
Ints6 |
A |
T |
14: 62,934,208 (GRCm39) |
F766L |
probably benign |
Het |
Kdm5d |
T |
A |
Y: 927,330 (GRCm39) |
M650K |
probably damaging |
Het |
Kif21b |
T |
C |
1: 136,087,166 (GRCm39) |
F881S |
possibly damaging |
Het |
Klrk1 |
C |
A |
6: 129,591,598 (GRCm39) |
Q176H |
possibly damaging |
Het |
Ky |
T |
C |
9: 102,414,820 (GRCm39) |
V244A |
probably benign |
Het |
Mia2 |
T |
A |
12: 59,201,205 (GRCm39) |
L191M |
possibly damaging |
Het |
Miga2 |
T |
A |
2: 30,271,756 (GRCm39) |
|
probably benign |
Het |
Mtss2 |
C |
T |
8: 111,464,580 (GRCm39) |
P322S |
probably damaging |
Het |
Nalcn |
A |
G |
14: 123,536,553 (GRCm39) |
|
probably benign |
Het |
Ncbp3 |
T |
A |
11: 72,940,671 (GRCm39) |
|
probably benign |
Het |
Nprl3 |
G |
A |
11: 32,184,876 (GRCm39) |
L378F |
probably damaging |
Het |
Ntrk2 |
A |
T |
13: 58,994,635 (GRCm39) |
M184L |
probably benign |
Het |
Or11g1 |
G |
T |
14: 50,651,154 (GRCm39) |
C51F |
probably benign |
Het |
Or9e1 |
T |
G |
11: 58,732,269 (GRCm39) |
C110G |
probably damaging |
Het |
Osbpl9 |
T |
C |
4: 108,940,325 (GRCm39) |
E287G |
probably damaging |
Het |
Parva |
T |
C |
7: 112,175,618 (GRCm39) |
F250L |
probably damaging |
Het |
Pcdhb11 |
C |
T |
18: 37,554,864 (GRCm39) |
Q65* |
probably null |
Het |
Phtf1 |
A |
G |
3: 103,901,081 (GRCm39) |
T377A |
probably damaging |
Het |
Pkp4 |
G |
A |
2: 59,152,987 (GRCm39) |
V612I |
possibly damaging |
Het |
Plscr2 |
C |
A |
9: 92,169,707 (GRCm39) |
S52R |
probably benign |
Het |
Pnisr |
C |
T |
4: 21,874,092 (GRCm39) |
|
probably benign |
Het |
Pole2 |
A |
C |
12: 69,256,653 (GRCm39) |
S291A |
probably damaging |
Het |
Ppp2r5d |
A |
G |
17: 46,994,944 (GRCm39) |
F586L |
probably benign |
Het |
Prrx1 |
G |
A |
1: 163,085,385 (GRCm39) |
R182C |
probably damaging |
Het |
Ptprs |
A |
G |
17: 56,736,103 (GRCm39) |
I110T |
possibly damaging |
Het |
Rasgrf2 |
G |
A |
13: 92,067,936 (GRCm39) |
|
probably benign |
Het |
Resf1 |
A |
T |
6: 149,229,873 (GRCm39) |
Q973L |
probably damaging |
Het |
Riox2 |
T |
C |
16: 59,312,255 (GRCm39) |
V464A |
probably benign |
Het |
Robo2 |
A |
G |
16: 73,764,690 (GRCm39) |
V646A |
possibly damaging |
Het |
Ros1 |
T |
A |
10: 51,994,444 (GRCm39) |
I1279F |
probably damaging |
Het |
Siglec1 |
G |
A |
2: 130,916,188 (GRCm39) |
T1254M |
probably benign |
Het |
Snx7 |
T |
C |
3: 117,640,324 (GRCm39) |
N62D |
probably damaging |
Het |
Sp100 |
G |
A |
1: 85,587,588 (GRCm39) |
|
probably null |
Het |
Stil |
A |
T |
4: 114,864,356 (GRCm39) |
I86L |
possibly damaging |
Het |
Tbc1d16 |
T |
A |
11: 119,099,864 (GRCm39) |
D170V |
probably benign |
Het |
Trappc13 |
G |
A |
13: 104,297,589 (GRCm39) |
T105M |
probably damaging |
Het |
Trhr |
T |
A |
15: 44,092,896 (GRCm39) |
S378T |
probably benign |
Het |
Ttc7b |
T |
C |
12: 100,466,332 (GRCm39) |
|
probably null |
Het |
Vegfc |
A |
T |
8: 54,610,174 (GRCm39) |
Y110F |
probably benign |
Het |
Vmn1r184 |
C |
A |
7: 25,966,602 (GRCm39) |
P116H |
possibly damaging |
Het |
Vmn2r5 |
A |
T |
3: 64,411,235 (GRCm39) |
C444* |
probably null |
Het |
Zfp341 |
A |
G |
2: 154,476,193 (GRCm39) |
E460G |
possibly damaging |
Het |
Zfp819 |
T |
A |
7: 43,265,868 (GRCm39) |
V41E |
probably benign |
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 |
R0557:Cemip2
|
UTSW |
19 |
21,789,267 (GRCm39) |
missense |
probably benign |
0.05 |
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'- GAGCTGTCACCTCTCTGCTTGG -3'
(R):5'- GCCATCAACTTCCTCGGCATTTCAG -3'
Sequencing Primer
(F):5'- ggctaatcaccatgtaaaaCATTAAG -3'
(R):5'- GAAAGATAAATGCCTTTATGTGAGC -3'
|
Posted On |
2013-07-11 |