Incidental Mutation 'R7727:Cemip2'
ID |
595602 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cemip2
|
Ensembl Gene |
ENSMUSG00000024754 |
Gene Name |
cell migration inducing hyaluronidase 2 |
Synonyms |
3110012M15Rik, Tmem2 |
MMRRC Submission |
045783-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.773)
|
Stock # |
R7727 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
21755706-21835724 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 21807321 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 917
(L917F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025663
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025663]
[ENSMUST00000096194]
|
AlphaFold |
Q5FWI3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025663
AA Change: L917F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000025663 Gene: ENSMUSG00000024754 AA Change: L917F
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: L917F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000093908 Gene: ENSMUSG00000024754 AA Change: L917F
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 |
0.0707 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
100% (69/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts5 |
A |
T |
16: 85,696,854 (GRCm39) |
L101Q |
probably damaging |
Het |
Arhgap18 |
A |
T |
10: 26,746,007 (GRCm39) |
I293F |
possibly damaging |
Het |
Atp8b1 |
T |
A |
18: 64,678,346 (GRCm39) |
Q850L |
probably damaging |
Het |
B4galnt3 |
A |
T |
6: 120,202,148 (GRCm39) |
F118Y |
probably benign |
Het |
Bcl6 |
A |
G |
16: 23,790,163 (GRCm39) |
|
probably null |
Het |
Cc2d2b |
T |
A |
19: 40,744,974 (GRCm39) |
L31Q |
probably benign |
Het |
Cd5l |
G |
T |
3: 87,275,162 (GRCm39) |
E234* |
probably null |
Het |
Cfap65 |
T |
C |
1: 74,965,784 (GRCm39) |
T409A |
probably benign |
Het |
Chst5 |
A |
T |
8: 112,617,557 (GRCm39) |
I21N |
probably benign |
Het |
Cldn20 |
T |
C |
17: 3,583,030 (GRCm39) |
Y68H |
probably benign |
Het |
Col4a4 |
T |
C |
1: 82,506,514 (GRCm39) |
M269V |
unknown |
Het |
Dgkh |
A |
G |
14: 78,832,585 (GRCm39) |
|
probably null |
Het |
Dpp6 |
A |
G |
5: 27,656,242 (GRCm39) |
T166A |
probably benign |
Het |
Drosha |
A |
G |
15: 12,881,731 (GRCm39) |
D754G |
probably damaging |
Het |
Epb41l4a |
C |
A |
18: 33,987,326 (GRCm39) |
K350N |
probably damaging |
Het |
Fsd1 |
T |
G |
17: 56,295,150 (GRCm39) |
D46E |
probably benign |
Het |
Gabra1 |
T |
C |
11: 42,024,418 (GRCm39) |
D419G |
probably damaging |
Het |
Golga4 |
T |
A |
9: 118,377,770 (GRCm39) |
D458E |
probably damaging |
Het |
Grm6 |
C |
A |
11: 50,742,369 (GRCm39) |
A134E |
probably benign |
Het |
Ikzf1 |
T |
A |
11: 11,698,339 (GRCm39) |
S63R |
probably damaging |
Het |
Ilvbl |
G |
A |
10: 78,412,500 (GRCm39) |
V74I |
probably benign |
Het |
Kcng2 |
C |
T |
18: 80,339,305 (GRCm39) |
V328M |
probably benign |
Het |
Kpna7 |
T |
C |
5: 144,941,855 (GRCm39) |
E145G |
probably benign |
Het |
Krt81 |
A |
G |
15: 101,357,448 (GRCm39) |
V428A |
probably damaging |
Het |
Lalba |
T |
C |
15: 98,380,549 (GRCm39) |
M2V |
probably benign |
Het |
Lrpprc |
T |
C |
17: 85,084,375 (GRCm39) |
S113G |
probably benign |
Het |
Mboat1 |
A |
C |
13: 30,410,289 (GRCm39) |
M249L |
probably benign |
Het |
Meltf |
T |
C |
16: 31,702,612 (GRCm39) |
V113A |
probably damaging |
Het |
Muc16 |
T |
A |
9: 18,571,538 (GRCm39) |
H327L |
unknown |
Het |
Myh1 |
A |
G |
11: 67,106,748 (GRCm39) |
I1277V |
probably benign |
Het |
Naf1 |
GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC |
GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC |
8: 67,313,200 (GRCm39) |
|
probably benign |
Het |
Naga |
C |
A |
15: 82,214,348 (GRCm39) |
V388L |
probably benign |
Het |
Nfkb1 |
A |
C |
3: 135,291,162 (GRCm39) |
M957R |
possibly damaging |
Het |
Nol12 |
C |
A |
15: 78,824,793 (GRCm39) |
S157* |
probably null |
Het |
Or13c25 |
A |
G |
4: 52,911,368 (GRCm39) |
V142A |
possibly damaging |
Het |
Or5g23 |
A |
G |
2: 85,438,751 (GRCm39) |
F168L |
possibly damaging |
Het |
Or8u3-ps |
A |
T |
2: 85,952,840 (GRCm39) |
D191V |
possibly damaging |
Het |
Pcdhga5 |
T |
C |
18: 37,828,098 (GRCm39) |
V182A |
probably benign |
Het |
Pik3r4 |
A |
G |
9: 105,547,081 (GRCm39) |
E953G |
probably damaging |
Het |
Piwil2 |
C |
T |
14: 70,631,506 (GRCm39) |
R646Q |
probably damaging |
Het |
Plxnc1 |
T |
C |
10: 94,779,971 (GRCm39) |
H157R |
probably damaging |
Het |
Prrg4 |
A |
T |
2: 104,669,723 (GRCm39) |
F131L |
probably benign |
Het |
Prss3b |
C |
A |
6: 41,010,127 (GRCm39) |
R69L |
probably benign |
Het |
Rab28 |
A |
G |
5: 41,865,313 (GRCm39) |
S4P |
probably damaging |
Het |
Ranbp2 |
C |
A |
10: 58,291,260 (GRCm39) |
Q209K |
probably benign |
Het |
Schip1 |
G |
A |
3: 67,972,317 (GRCm39) |
D15N |
probably benign |
Het |
Serpina3f |
T |
G |
12: 104,184,477 (GRCm39) |
M207R |
probably benign |
Het |
Sgsm1 |
A |
T |
5: 113,422,193 (GRCm39) |
M487K |
possibly damaging |
Het |
Sh3tc2 |
A |
T |
18: 62,122,651 (GRCm39) |
I471F |
probably benign |
Het |
Slamf1 |
G |
A |
1: 171,602,467 (GRCm39) |
V65I |
possibly damaging |
Het |
Slit3 |
T |
C |
11: 35,574,871 (GRCm39) |
C1062R |
probably damaging |
Het |
Snapc4 |
T |
G |
2: 26,263,446 (GRCm39) |
K344N |
probably damaging |
Het |
Sorl1 |
A |
G |
9: 41,895,822 (GRCm39) |
Y1778H |
probably damaging |
Het |
Spon2 |
G |
A |
5: 33,373,019 (GRCm39) |
R228C |
probably damaging |
Het |
Sv2c |
A |
G |
13: 96,113,203 (GRCm39) |
I582T |
possibly damaging |
Het |
Tamm41 |
C |
T |
6: 114,993,139 (GRCm39) |
V205M |
probably damaging |
Het |
Trpm2 |
T |
C |
10: 77,761,623 (GRCm39) |
D1009G |
probably benign |
Het |
Trpm6 |
T |
C |
19: 18,831,613 (GRCm39) |
S1493P |
probably damaging |
Het |
Ttc34 |
G |
A |
4: 154,923,731 (GRCm39) |
V147I |
possibly damaging |
Het |
Tut7 |
A |
G |
13: 59,947,496 (GRCm39) |
F942L |
probably benign |
Het |
Uba2 |
C |
T |
7: 33,850,275 (GRCm39) |
A393T |
probably damaging |
Het |
Ubn2 |
T |
A |
6: 38,440,873 (GRCm39) |
N416K |
probably benign |
Het |
Uevld |
T |
C |
7: 46,593,553 (GRCm39) |
N233S |
probably benign |
Het |
Upp2 |
G |
A |
2: 58,664,160 (GRCm39) |
M142I |
possibly damaging |
Het |
Vps52 |
T |
A |
17: 34,181,108 (GRCm39) |
V450D |
probably benign |
Het |
Wdr31 |
A |
T |
4: 62,378,873 (GRCm39) |
F118Y |
probably damaging |
Het |
Zfp110 |
T |
A |
7: 12,582,922 (GRCm39) |
D523E |
possibly damaging |
Het |
Zfp367 |
A |
T |
13: 64,293,457 (GRCm39) |
V143D |
probably damaging |
Het |
Zfp950 |
T |
C |
19: 61,108,379 (GRCm39) |
I235V |
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 |
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 |
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'- AGACAGGCCCGCATTTATTAAAC -3'
(R):5'- GACTTGTGTTTCCACCTGGACC -3'
Sequencing Primer
(F):5'- CAGGCCCGCATTTATTAAACATTATC -3'
(R):5'- GTTTCCACCTGGACCCAGTG -3'
|
Posted On |
2019-11-12 |