Incidental Mutation 'R6273:Cemip2'
| ID |
507503 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cemip2
|
| Ensembl Gene |
ENSMUSG00000024754 |
| Gene Name |
cell migration inducing hyaluronidase 2 |
| Synonyms |
3110012M15Rik, Tmem2 |
| MMRRC Submission |
044443-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.773)
|
| Stock # |
R6273 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
21755706-21835724 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21779369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 393
(V393E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093908
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025663]
[ENSMUST00000096194]
|
| AlphaFold |
Q5FWI3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025663
AA Change: V393E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000025663
Gene: ENSMUSG00000024754
AA Change: V393E
| 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: V393E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000093908
Gene: ENSMUSG00000024754
AA Change: V393E
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
| Validation Efficiency |
98% (78/80) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
T |
A |
5: 64,055,561 (GRCm39) |
I99N |
probably damaging |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Ankrd31 |
A |
G |
13: 96,988,181 (GRCm39) |
I1065V |
possibly damaging |
Het |
| Aox1 |
A |
G |
1: 58,378,831 (GRCm39) |
T1027A |
probably benign |
Het |
| Atm |
G |
A |
9: 53,399,222 (GRCm39) |
P1593L |
probably benign |
Het |
| Atp13a5 |
T |
G |
16: 29,167,555 (GRCm39) |
I132L |
probably benign |
Het |
| BC035044 |
A |
G |
6: 128,867,852 (GRCm39) |
|
probably benign |
Het |
| Cadm3 |
CT |
C |
1: 173,176,691 (GRCm39) |
|
probably benign |
Homo |
| Car3 |
C |
T |
3: 14,936,677 (GRCm39) |
P247S |
probably benign |
Het |
| Ccdc7a |
T |
C |
8: 129,513,819 (GRCm39) |
Y160C |
probably damaging |
Het |
| Cd1d1 |
A |
G |
3: 86,905,564 (GRCm39) |
V143A |
probably benign |
Het |
| Cog6 |
A |
T |
3: 52,903,473 (GRCm39) |
F142I |
probably damaging |
Het |
| Cracd |
A |
T |
5: 77,005,568 (GRCm39) |
D643V |
unknown |
Het |
| Crhr1 |
T |
G |
11: 104,054,682 (GRCm39) |
N98K |
possibly damaging |
Het |
| Csf1 |
A |
G |
3: 107,656,479 (GRCm39) |
V72A |
probably damaging |
Het |
| Cwc15 |
T |
A |
9: 14,421,537 (GRCm39) |
I201K |
probably benign |
Het |
| Dgka |
T |
C |
10: 128,559,515 (GRCm39) |
K482R |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,281,476 (GRCm39) |
S2846P |
possibly damaging |
Het |
| Dst |
T |
A |
1: 34,314,347 (GRCm39) |
I4199N |
probably damaging |
Het |
| Dusp7 |
A |
G |
9: 106,251,095 (GRCm39) |
T407A |
possibly damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fem1a |
T |
C |
17: 56,564,083 (GRCm39) |
Y59H |
possibly damaging |
Het |
| Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
| Filip1 |
A |
T |
9: 79,723,168 (GRCm39) |
D1150E |
probably benign |
Het |
| Gabra1 |
A |
G |
11: 42,031,138 (GRCm39) |
V264A |
probably damaging |
Het |
| Gm4131 |
T |
C |
14: 62,702,299 (GRCm39) |
E223G |
probably damaging |
Het |
| Gon4l |
T |
C |
3: 88,763,156 (GRCm39) |
V333A |
probably damaging |
Het |
| Gsk3b |
A |
G |
16: 38,028,408 (GRCm39) |
T289A |
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,301,846 (GRCm39) |
S2912P |
probably damaging |
Het |
| Htr7 |
A |
T |
19: 36,018,969 (GRCm39) |
|
probably benign |
Het |
| Ibsp |
A |
G |
5: 104,458,167 (GRCm39) |
T235A |
probably benign |
Het |
| Ints13 |
A |
T |
6: 146,467,179 (GRCm39) |
D116E |
probably damaging |
Het |
| Irag1 |
G |
T |
7: 110,470,790 (GRCm39) |
H848N |
probably benign |
Het |
| Kctd19 |
T |
C |
8: 106,112,117 (GRCm39) |
N753S |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,715,979 (GRCm39) |
N2054D |
probably benign |
Het |
| Mink1 |
A |
T |
11: 70,502,261 (GRCm39) |
K880* |
probably null |
Het |
| Myo15b |
T |
A |
11: 115,753,625 (GRCm39) |
L824Q |
possibly damaging |
Het |
| Napepld |
T |
C |
5: 21,870,320 (GRCm39) |
E366G |
probably benign |
Het |
| Obscn |
T |
A |
11: 58,967,819 (GRCm39) |
T2662S |
possibly damaging |
Het |
| Or2g7 |
T |
G |
17: 38,378,686 (GRCm39) |
L208R |
probably damaging |
Het |
| Or2n1b |
T |
A |
17: 38,459,833 (GRCm39) |
M118K |
possibly damaging |
Het |
| Or4k52 |
T |
C |
2: 111,611,567 (GRCm39) |
F301L |
probably benign |
Het |
| Or52p1 |
A |
G |
7: 104,267,102 (GRCm39) |
D72G |
probably damaging |
Het |
| Or5b12 |
A |
G |
19: 12,896,764 (GRCm39) |
V303A |
probably benign |
Het |
| Or6d13 |
A |
G |
6: 116,518,277 (GRCm39) |
T288A |
possibly damaging |
Het |
| Pah |
T |
C |
10: 87,412,077 (GRCm39) |
|
probably null |
Het |
| Panx3 |
T |
G |
9: 37,578,725 (GRCm39) |
I85L |
probably benign |
Het |
| Pate4 |
T |
C |
9: 35,519,086 (GRCm39) |
N94D |
probably benign |
Het |
| Pde4d |
A |
G |
13: 110,086,755 (GRCm39) |
M610V |
possibly damaging |
Het |
| Pik3c2b |
T |
C |
1: 132,994,449 (GRCm39) |
S138P |
probably benign |
Het |
| Pkn1 |
T |
C |
8: 84,398,899 (GRCm39) |
N696S |
probably damaging |
Het |
| Plppr2 |
A |
G |
9: 21,855,801 (GRCm39) |
E258G |
probably damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,955,453 (GRCm39) |
M538K |
probably damaging |
Het |
| Prepl |
G |
T |
17: 85,390,696 (GRCm39) |
N87K |
probably benign |
Het |
| Prkag2 |
C |
A |
5: 25,152,534 (GRCm39) |
R190L |
probably damaging |
Het |
| Rara |
A |
G |
11: 98,861,048 (GRCm39) |
T179A |
probably benign |
Het |
| Rfx7 |
A |
G |
9: 72,524,279 (GRCm39) |
K490E |
possibly damaging |
Het |
| Rgsl1 |
C |
T |
1: 153,703,211 (GRCm39) |
V147M |
possibly damaging |
Het |
| Rph3a |
A |
G |
5: 121,083,485 (GRCm39) |
I595T |
possibly damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Slc8a2 |
T |
C |
7: 15,879,259 (GRCm39) |
F582L |
possibly damaging |
Het |
| Sprr2e |
A |
G |
3: 92,260,171 (GRCm39) |
M1V |
probably null |
Het |
| Steap1 |
T |
A |
5: 5,790,827 (GRCm39) |
R40S |
possibly damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Thsd7a |
A |
T |
6: 12,408,835 (GRCm39) |
V729E |
probably damaging |
Het |
| Tmprss13 |
A |
G |
9: 45,256,630 (GRCm39) |
Y525C |
probably damaging |
Het |
| Tnik |
A |
T |
3: 28,631,649 (GRCm39) |
H383L |
possibly damaging |
Het |
| Vars1 |
T |
C |
17: 35,232,719 (GRCm39) |
L881S |
probably damaging |
Het |
| Vmn1r201 |
A |
C |
13: 22,659,385 (GRCm39) |
S200R |
probably damaging |
Het |
| Vmn2r130 |
A |
T |
17: 23,295,759 (GRCm39) |
H643L |
probably benign |
Het |
| Vmn2r14 |
A |
T |
5: 109,369,133 (GRCm39) |
W147R |
probably benign |
Het |
| Vps53 |
T |
C |
11: 75,992,844 (GRCm39) |
E367G |
probably benign |
Het |
| Xab2 |
C |
T |
8: 3,661,822 (GRCm39) |
G544S |
probably damaging |
Het |
| Ythdf3 |
T |
A |
3: 16,259,020 (GRCm39) |
V400E |
possibly damaging |
Het |
| Zfand5 |
C |
T |
19: 21,257,060 (GRCm39) |
P147S |
probably benign |
Het |
| Zfp768 |
A |
T |
7: 126,944,319 (GRCm39) |
|
probably null |
Het |
| Zswim8 |
A |
G |
14: 20,763,521 (GRCm39) |
M423V |
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 |
|
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'- TGACAAATGACCAGCTGTGC -3'
(R):5'- AATAGATCAGTAGCTCGTCTAGACTTC -3'
Sequencing Primer
(F):5'- CTTGCTGTTTCTTCCTTATAGGCAAG -3'
(R):5'- CAGTAGCTCGTCTAGACTTCTTGAG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation