Incidental Mutation 'R1859:Cemip2'
| ID |
204272 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cemip2
|
| Ensembl Gene |
ENSMUSG00000024754 |
| Gene Name |
cell migration inducing hyaluronidase 2 |
| Synonyms |
3110012M15Rik, Tmem2 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.773)
|
| Stock # |
R1859 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
21755706-21835724 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21825341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1213
(V1213A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093908
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025663]
[ENSMUST00000096194]
|
| AlphaFold |
Q5FWI3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025663
AA Change: V1213A
PolyPhen 2
Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000025663
Gene: ENSMUSG00000024754
AA Change: V1213A
| 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 |
possibly damaging
Transcript: ENSMUST00000096194
AA Change: V1213A
PolyPhen 2
Score 0.561 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000093908
Gene: ENSMUSG00000024754
AA Change: V1213A
| 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: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001K19Rik |
C |
T |
12: 110,637,268 (GRCm39) |
|
probably benign |
Het |
| Adcy10 |
A |
G |
1: 165,349,530 (GRCm39) |
E467G |
probably damaging |
Het |
| Alkbh8 |
A |
G |
9: 3,385,499 (GRCm39) |
D597G |
probably benign |
Het |
| Alpk1 |
T |
A |
3: 127,474,749 (GRCm39) |
H418L |
possibly damaging |
Het |
| Ano5 |
G |
T |
7: 51,196,581 (GRCm39) |
V138L |
probably damaging |
Het |
| Aspg |
T |
A |
12: 112,087,606 (GRCm39) |
I319K |
possibly damaging |
Het |
| Atp9b |
T |
C |
18: 80,793,135 (GRCm39) |
T970A |
possibly damaging |
Het |
| Brd10 |
A |
C |
19: 29,732,323 (GRCm39) |
C230G |
possibly damaging |
Het |
| C4b |
T |
A |
17: 34,954,527 (GRCm39) |
M881L |
probably benign |
Het |
| Cd209c |
A |
T |
8: 3,994,953 (GRCm39) |
N70K |
probably benign |
Het |
| Cdca5 |
T |
C |
19: 6,140,124 (GRCm39) |
V95A |
possibly damaging |
Het |
| Cds2 |
A |
G |
2: 132,144,115 (GRCm39) |
Y297C |
probably damaging |
Het |
| Celsr2 |
C |
T |
3: 108,303,946 (GRCm39) |
G2371S |
probably damaging |
Het |
| Chd5 |
T |
A |
4: 152,464,980 (GRCm39) |
I1557N |
probably benign |
Het |
| Cntn5 |
C |
T |
9: 9,972,839 (GRCm39) |
E266K |
probably damaging |
Het |
| Crtam |
G |
A |
9: 40,884,900 (GRCm39) |
T363M |
possibly damaging |
Het |
| Dnah2 |
A |
G |
11: 69,328,712 (GRCm39) |
S3298P |
probably damaging |
Het |
| Dok1 |
A |
T |
6: 83,009,226 (GRCm39) |
Y209N |
probably damaging |
Het |
| Dpp10 |
T |
C |
1: 123,281,333 (GRCm39) |
D561G |
possibly damaging |
Het |
| Drosha |
A |
G |
15: 12,878,804 (GRCm39) |
K710R |
probably benign |
Het |
| Dse |
T |
C |
10: 34,029,225 (GRCm39) |
T622A |
probably benign |
Het |
| Duxf4 |
A |
G |
10: 58,071,602 (GRCm39) |
V204A |
probably benign |
Het |
| Ercc6 |
T |
C |
14: 32,248,735 (GRCm39) |
S429P |
probably damaging |
Het |
| Fam135a |
A |
T |
1: 24,069,306 (GRCm39) |
V521E |
probably damaging |
Het |
| Fbxl7 |
A |
T |
15: 26,543,279 (GRCm39) |
L456Q |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,648,489 (GRCm39) |
I683T |
probably damaging |
Het |
| Foxc2 |
G |
T |
8: 121,843,364 (GRCm39) |
R4L |
probably damaging |
Het |
| Glyctk |
C |
T |
9: 106,034,731 (GRCm39) |
V112I |
probably benign |
Het |
| Guf1 |
G |
T |
5: 69,725,803 (GRCm39) |
G481* |
probably null |
Het |
| Heatr1 |
T |
C |
13: 12,418,040 (GRCm39) |
L324S |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,853,350 (GRCm39) |
L57P |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,532,944 (GRCm39) |
C3080S |
probably damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Ifit1 |
T |
A |
19: 34,624,944 (GRCm39) |
F27I |
probably benign |
Het |
| Ift20 |
G |
T |
11: 78,430,860 (GRCm39) |
E68* |
probably null |
Het |
| Itsn1 |
A |
G |
16: 91,686,042 (GRCm39) |
|
probably benign |
Het |
| Ksr2 |
T |
A |
5: 117,553,006 (GRCm39) |
L38Q |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 26,907,078 (GRCm39) |
M2361K |
possibly damaging |
Het |
| Lrrc56 |
A |
G |
7: 140,787,421 (GRCm39) |
M353V |
probably benign |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Map3k9 |
A |
T |
12: 81,771,256 (GRCm39) |
S800R |
possibly damaging |
Het |
| Mef2a |
A |
G |
7: 66,915,766 (GRCm39) |
S179P |
probably damaging |
Het |
| Micall1 |
A |
G |
15: 79,007,145 (GRCm39) |
|
probably benign |
Het |
| Mpg |
A |
G |
11: 32,181,957 (GRCm39) |
|
probably null |
Het |
| Mpp7 |
A |
T |
18: 7,350,967 (GRCm39) |
*577K |
probably null |
Het |
| Msh4 |
G |
T |
3: 153,611,517 (GRCm39) |
H35Q |
probably benign |
Het |
| Mst1 |
G |
A |
9: 107,961,545 (GRCm39) |
V601I |
probably benign |
Het |
| Myh10 |
T |
A |
11: 68,636,239 (GRCm39) |
N246K |
probably benign |
Het |
| Myom3 |
C |
A |
4: 135,506,707 (GRCm39) |
N493K |
probably benign |
Het |
| Mypn |
T |
C |
10: 62,981,969 (GRCm39) |
D537G |
probably benign |
Het |
| Ncan |
A |
T |
8: 70,567,998 (GRCm39) |
M38K |
possibly damaging |
Het |
| Ndufaf6 |
G |
T |
4: 11,053,474 (GRCm39) |
H277Q |
probably benign |
Het |
| Nos1 |
A |
T |
5: 118,043,527 (GRCm39) |
N601Y |
possibly damaging |
Het |
| Nrxn2 |
G |
A |
19: 6,538,825 (GRCm39) |
V794I |
probably benign |
Het |
| Or10q12 |
T |
A |
19: 13,746,088 (GRCm39) |
Y127* |
probably null |
Het |
| Or13a17 |
T |
A |
7: 140,271,571 (GRCm39) |
V251E |
possibly damaging |
Het |
| Or13c7b |
A |
T |
4: 43,820,779 (GRCm39) |
I194N |
possibly damaging |
Het |
| Or2y17 |
T |
C |
11: 49,232,211 (GRCm39) |
L284P |
probably damaging |
Het |
| Or8h9 |
T |
C |
2: 86,789,425 (GRCm39) |
I126V |
probably damaging |
Het |
| Parp4 |
T |
C |
14: 56,886,372 (GRCm39) |
V1817A |
unknown |
Het |
| Pfdn1 |
C |
A |
18: 36,584,153 (GRCm39) |
M60I |
probably benign |
Het |
| Ppp1r3c |
T |
C |
19: 36,711,011 (GRCm39) |
N253S |
probably damaging |
Het |
| Prdm5 |
A |
G |
6: 65,808,263 (GRCm39) |
I42V |
probably benign |
Het |
| Prom2 |
T |
G |
2: 127,383,017 (GRCm39) |
Q75P |
probably damaging |
Het |
| Ptpn23 |
T |
C |
9: 110,217,938 (GRCm39) |
D669G |
possibly damaging |
Het |
| Rag1 |
T |
C |
2: 101,474,407 (GRCm39) |
D245G |
probably benign |
Het |
| Rpl22l1 |
T |
A |
3: 28,860,747 (GRCm39) |
|
probably null |
Het |
| Sars2 |
T |
C |
7: 28,443,737 (GRCm39) |
V113A |
probably damaging |
Het |
| Sbno2 |
T |
A |
10: 79,894,473 (GRCm39) |
K1067* |
probably null |
Het |
| Sec61g |
A |
G |
11: 16,456,371 (GRCm39) |
|
probably null |
Het |
| Slc4a11 |
A |
T |
2: 130,529,932 (GRCm39) |
M282K |
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 76,002,569 (GRCm39) |
S242P |
probably benign |
Het |
| Sparc |
A |
T |
11: 55,297,334 (GRCm39) |
|
probably null |
Het |
| Thra |
T |
A |
11: 98,646,977 (GRCm39) |
C33S |
probably damaging |
Het |
| Trrap |
A |
T |
5: 144,767,761 (GRCm39) |
T2293S |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,724,989 (GRCm39) |
|
probably benign |
Het |
| Vat1l |
T |
A |
8: 114,998,041 (GRCm39) |
V195E |
probably damaging |
Het |
| Vmn1r60 |
T |
A |
7: 5,547,549 (GRCm39) |
I184F |
possibly damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,825,940 (GRCm39) |
I1192T |
probably damaging |
Het |
| Zbtb10 |
T |
C |
3: 9,345,446 (GRCm39) |
S737P |
possibly damaging |
Het |
| Zfp553 |
A |
G |
7: 126,834,517 (GRCm39) |
E24G |
probably benign |
Het |
| Zscan30 |
A |
G |
18: 24,104,524 (GRCm39) |
|
noncoding transcript |
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 |
|
|
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'- TGAGACAGAATTCCAGGTCATG -3'
(R):5'- GTCTGTACCTGGCCAAAAGG -3'
Sequencing Primer
(F):5'- ATTCCAGGTCATGAAGTAGGTG -3'
(R):5'- CAACACTATGGTTCGATATCTGTGCG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation