Incidental Mutation 'R7678:Cemip2'
| ID |
592612 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cemip2
|
| Ensembl Gene |
ENSMUSG00000024754 |
| Gene Name |
cell migration inducing hyaluronidase 2 |
| Synonyms |
3110012M15Rik, Tmem2 |
| MMRRC Submission |
045745-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.773)
|
| Stock # |
R7678 (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 A
at 21775480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 241
(T241K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025663]
[ENSMUST00000096194]
|
| AlphaFold |
Q5FWI3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025663
AA Change: T241K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000025663
Gene: ENSMUSG00000024754
AA Change: T241K
| 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 damaging
Transcript: ENSMUST00000096194
AA Change: T241K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000093908
Gene: ENSMUSG00000024754
AA Change: T241K
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
99% (67/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
C |
A |
5: 8,137,750 (GRCm39) |
|
probably null |
Het |
| Ank1 |
A |
G |
8: 23,607,074 (GRCm39) |
D1325G |
probably damaging |
Het |
| Asxl1 |
T |
C |
2: 153,242,572 (GRCm39) |
S1042P |
probably damaging |
Het |
| Bpifb1 |
C |
T |
2: 154,044,649 (GRCm39) |
H39Y |
possibly damaging |
Het |
| Capn13 |
C |
A |
17: 73,622,300 (GRCm39) |
M663I |
probably damaging |
Het |
| Clec2g |
A |
G |
6: 128,956,400 (GRCm39) |
E72G |
probably damaging |
Het |
| Col12a1 |
T |
A |
9: 79,558,768 (GRCm39) |
Y1899F |
probably damaging |
Het |
| Ctbp2 |
A |
G |
7: 132,616,353 (GRCm39) |
V194A |
probably benign |
Het |
| Cttnbp2 |
G |
T |
6: 18,382,809 (GRCm39) |
L1320I |
probably damaging |
Het |
| E2f2 |
T |
A |
4: 135,920,137 (GRCm39) |
L374* |
probably null |
Het |
| Echdc3 |
C |
T |
2: 6,217,687 (GRCm39) |
G29S |
probably benign |
Het |
| Ecm1 |
A |
G |
3: 95,643,494 (GRCm39) |
S269P |
probably damaging |
Het |
| Elmo2 |
G |
A |
2: 165,133,664 (GRCm39) |
P775S |
unknown |
Het |
| Eno3 |
T |
A |
11: 70,549,993 (GRCm39) |
|
probably null |
Het |
| Faf1 |
G |
A |
4: 109,687,061 (GRCm39) |
R267K |
probably benign |
Het |
| Fam162a |
G |
A |
16: 35,870,307 (GRCm39) |
|
probably benign |
Het |
| Fam178b |
T |
A |
1: 36,603,532 (GRCm39) |
D473V |
probably damaging |
Het |
| Fat2 |
G |
A |
11: 55,173,156 (GRCm39) |
T2519I |
probably damaging |
Het |
| Foxc2 |
A |
G |
8: 121,844,834 (GRCm39) |
Y494C |
probably damaging |
Het |
| Gcnt2 |
C |
A |
13: 41,107,195 (GRCm39) |
Q355K |
probably benign |
Het |
| Glg1 |
G |
T |
8: 111,905,497 (GRCm39) |
H595N |
probably benign |
Het |
| Gm9913 |
A |
T |
2: 125,348,480 (GRCm39) |
H97L |
unknown |
Het |
| Hbegf |
T |
A |
18: 36,640,601 (GRCm39) |
N152I |
possibly damaging |
Het |
| Hipk1 |
G |
A |
3: 103,667,866 (GRCm39) |
T567I |
probably damaging |
Het |
| Idh3a |
C |
T |
9: 54,502,453 (GRCm39) |
P78S |
probably damaging |
Het |
| Igsf10 |
A |
T |
3: 59,226,761 (GRCm39) |
M2304K |
possibly damaging |
Het |
| Inf2 |
A |
G |
12: 112,573,428 (GRCm39) |
T723A |
unknown |
Het |
| Itpr2 |
A |
T |
6: 146,089,048 (GRCm39) |
F2220Y |
probably benign |
Het |
| Kpnb1 |
C |
T |
11: 97,059,999 (GRCm39) |
R557Q |
probably damaging |
Het |
| Lefty1 |
A |
G |
1: 180,764,325 (GRCm39) |
D155G |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,409,922 (GRCm39) |
C1554R |
probably damaging |
Het |
| Lrrc10 |
A |
G |
10: 116,881,662 (GRCm39) |
D112G |
probably benign |
Het |
| Med12l |
A |
G |
3: 58,984,141 (GRCm39) |
E439G |
probably damaging |
Het |
| Ms4a7 |
A |
T |
19: 11,301,868 (GRCm39) |
F185Y |
probably benign |
Het |
| Mtmr6 |
T |
A |
14: 60,527,101 (GRCm39) |
M234K |
probably damaging |
Het |
| Myh7b |
C |
A |
2: 155,459,698 (GRCm39) |
|
probably null |
Het |
| Myo1d |
T |
C |
11: 80,567,719 (GRCm39) |
M254V |
possibly damaging |
Het |
| Nbas |
T |
C |
12: 13,465,662 (GRCm39) |
V1368A |
probably damaging |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Neb |
A |
G |
2: 52,096,714 (GRCm39) |
V4999A |
probably damaging |
Het |
| Npbwr1 |
G |
T |
1: 5,986,927 (GRCm39) |
Q196K |
probably benign |
Het |
| Nsd3 |
A |
T |
8: 26,149,833 (GRCm39) |
E339D |
possibly damaging |
Het |
| Oog4 |
CAA |
CA |
4: 143,164,022 (GRCm39) |
|
probably null |
Het |
| Or11g1 |
T |
C |
14: 50,651,471 (GRCm39) |
F157L |
probably damaging |
Het |
| Or6c206 |
A |
G |
10: 129,096,937 (GRCm39) |
S36G |
probably damaging |
Het |
| Or7d11 |
T |
C |
9: 19,965,901 (GRCm39) |
N168S |
probably damaging |
Het |
| Plxna1 |
C |
T |
6: 89,308,882 (GRCm39) |
V1199M |
probably damaging |
Het |
| Ppfibp2 |
T |
A |
7: 107,315,873 (GRCm39) |
M285K |
probably damaging |
Het |
| Ppip5k1 |
A |
G |
2: 121,168,142 (GRCm39) |
Y704H |
probably damaging |
Het |
| Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
| Sbspon |
T |
C |
1: 15,929,282 (GRCm39) |
M170V |
probably benign |
Het |
| Scfd2 |
A |
C |
5: 74,619,297 (GRCm39) |
F440V |
probably benign |
Het |
| Slc22a19 |
T |
A |
19: 7,688,302 (GRCm39) |
D86V |
possibly damaging |
Het |
| Smg5 |
A |
G |
3: 88,261,202 (GRCm39) |
N685S |
possibly damaging |
Het |
| Spata46 |
A |
G |
1: 170,139,333 (GRCm39) |
R111G |
possibly damaging |
Het |
| Sry |
A |
T |
Y: 2,663,248 (GRCm39) |
D137E |
possibly damaging |
Het |
| Tbkbp1 |
T |
C |
11: 97,040,309 (GRCm39) |
D35G |
probably damaging |
Het |
| Tcf20 |
A |
T |
15: 82,735,766 (GRCm39) |
V1895D |
possibly damaging |
Het |
| Tfap4 |
G |
T |
16: 4,369,630 (GRCm39) |
Q112K |
possibly damaging |
Het |
| Trmt10c |
T |
A |
16: 55,855,302 (GRCm39) |
D111V |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,688,881 (GRCm39) |
I2415T |
probably benign |
Het |
| Vmn2r107 |
A |
T |
17: 20,576,901 (GRCm39) |
M300L |
probably benign |
Het |
| Vmn2r5 |
A |
T |
3: 64,416,943 (GRCm39) |
F72I |
probably benign |
Het |
| Vmn2r53 |
T |
A |
7: 12,332,425 (GRCm39) |
H408L |
probably benign |
Het |
| Zan |
C |
T |
5: 137,461,802 (GRCm39) |
V1126M |
unknown |
Het |
| Zfp493 |
A |
T |
13: 67,927,814 (GRCm39) |
|
probably benign |
Het |
| Zfp618 |
C |
A |
4: 63,004,858 (GRCm39) |
A86E |
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 |
|
|
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'- GGCGCTTCATATTGGAGCAG -3'
(R):5'- GACTGCTGAGTCTCCAACAG -3'
Sequencing Primer
(F):5'- CGCTTCATATTGGAGCAGAAAAATGC -3'
(R):5'- TGCTGAGTCTCCAACAGCAATAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation