Incidental Mutation 'R1435:Cemip2'
| ID |
159492 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cemip2
|
| Ensembl Gene |
ENSMUSG00000024754 |
| Gene Name |
cell migration inducing hyaluronidase 2 |
| Synonyms |
3110012M15Rik, Tmem2 |
| MMRRC Submission |
039490-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.773)
|
| Stock # |
R1435 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
21755706-21835724 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21822070 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 1155
(Q1155L)
|
| 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: Q1155L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000025663
Gene: ENSMUSG00000024754
AA Change: Q1155L
| 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: Q1155L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000093908
Gene: ENSMUSG00000024754
AA Change: Q1155L
| 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: 98.7%
- 3x: 97.5%
- 10x: 93.0%
- 20x: 81.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadvl |
T |
G |
11: 69,905,642 (GRCm39) |
T62P |
probably benign |
Het |
| Amz1 |
A |
T |
5: 140,733,921 (GRCm39) |
N166Y |
probably damaging |
Het |
| Anxa6 |
T |
C |
11: 54,882,236 (GRCm39) |
Q518R |
probably benign |
Het |
| Aox3 |
G |
A |
1: 58,202,605 (GRCm39) |
|
probably null |
Het |
| Arid1a |
C |
T |
4: 133,408,009 (GRCm39) |
R2166Q |
unknown |
Het |
| Asb4 |
T |
G |
6: 5,398,410 (GRCm39) |
I125S |
probably benign |
Het |
| Aspscr1 |
T |
C |
11: 120,580,048 (GRCm39) |
S196P |
probably benign |
Het |
| Atxn3 |
A |
G |
12: 101,908,460 (GRCm39) |
F131L |
probably benign |
Het |
| B3gnt5 |
T |
A |
16: 19,587,924 (GRCm39) |
Y48N |
probably damaging |
Het |
| Bglap3 |
A |
G |
3: 88,276,453 (GRCm39) |
M35T |
possibly damaging |
Het |
| Cabp1 |
A |
T |
5: 115,311,267 (GRCm39) |
D79E |
probably damaging |
Het |
| Chd2 |
C |
T |
7: 73,102,884 (GRCm39) |
R1367Q |
probably damaging |
Het |
| Clec5a |
T |
A |
6: 40,561,358 (GRCm39) |
Q29L |
probably damaging |
Het |
| Cmtr2 |
T |
C |
8: 110,947,711 (GRCm39) |
L7P |
probably benign |
Het |
| Cnbd1 |
T |
C |
4: 18,907,026 (GRCm39) |
I183V |
probably benign |
Het |
| Col7a1 |
G |
A |
9: 108,792,341 (GRCm39) |
G1297D |
unknown |
Het |
| Csnk1g3 |
G |
A |
18: 54,039,746 (GRCm39) |
|
probably null |
Het |
| Cyp4a32 |
A |
T |
4: 115,463,863 (GRCm39) |
N134I |
probably damaging |
Het |
| Cyp4f16 |
CTATG |
CTATGTATG |
17: 32,769,708 (GRCm39) |
|
probably null |
Het |
| Dst |
G |
A |
1: 34,153,026 (GRCm39) |
V56M |
probably damaging |
Het |
| Engase |
A |
T |
11: 118,375,727 (GRCm39) |
T32S |
probably damaging |
Het |
| Fam117b |
T |
C |
1: 60,008,222 (GRCm39) |
I352T |
possibly damaging |
Het |
| Golga4 |
C |
A |
9: 118,364,508 (GRCm39) |
D290E |
probably benign |
Het |
| Gtf2a1l |
C |
A |
17: 89,001,743 (GRCm39) |
H153N |
probably damaging |
Het |
| Hivep1 |
C |
A |
13: 42,311,519 (GRCm39) |
T1253N |
probably damaging |
Het |
| Hps1 |
T |
C |
19: 42,750,714 (GRCm39) |
S398G |
probably benign |
Het |
| Il1r2 |
T |
A |
1: 40,144,459 (GRCm39) |
F49I |
probably damaging |
Het |
| Iqsec1 |
A |
G |
6: 90,649,006 (GRCm39) |
S808P |
probably damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,922,776 (GRCm39) |
L289P |
probably damaging |
Het |
| Magi2 |
T |
A |
5: 20,563,943 (GRCm39) |
D358E |
probably damaging |
Het |
| Man2b2 |
A |
G |
5: 36,970,411 (GRCm39) |
W832R |
probably damaging |
Het |
| Mfsd4a |
G |
T |
1: 131,995,494 (GRCm39) |
T46K |
probably damaging |
Het |
| N4bp3 |
G |
A |
11: 51,535,167 (GRCm39) |
R341W |
probably damaging |
Het |
| Odad2 |
T |
A |
18: 7,222,646 (GRCm39) |
H541L |
probably benign |
Het |
| Or51f2 |
T |
C |
7: 102,526,974 (GRCm39) |
S216P |
probably damaging |
Het |
| Or8s5 |
A |
T |
15: 98,238,209 (GRCm39) |
H220Q |
possibly damaging |
Het |
| Otof |
A |
G |
5: 30,536,039 (GRCm39) |
L1353S |
probably benign |
Het |
| Pcsk5 |
A |
T |
19: 17,541,246 (GRCm39) |
C844* |
probably null |
Het |
| Pdk2 |
T |
C |
11: 94,922,721 (GRCm39) |
Y153C |
probably damaging |
Het |
| Pes1 |
T |
C |
11: 3,926,075 (GRCm39) |
V292A |
probably benign |
Het |
| Pex14 |
T |
C |
4: 149,047,984 (GRCm39) |
T198A |
probably benign |
Het |
| Phactr4 |
G |
A |
4: 132,104,559 (GRCm39) |
T256I |
probably benign |
Het |
| Pnpla2 |
G |
A |
7: 141,037,324 (GRCm39) |
R109H |
probably benign |
Het |
| Polh |
G |
A |
17: 46,505,181 (GRCm39) |
T145I |
probably damaging |
Het |
| Polr3d |
A |
T |
14: 70,677,479 (GRCm39) |
V299E |
probably benign |
Het |
| Polr3e |
C |
T |
7: 120,540,011 (GRCm39) |
T586M |
probably benign |
Het |
| Rbm20 |
T |
A |
19: 53,802,588 (GRCm39) |
F365L |
probably benign |
Het |
| Resf1 |
A |
G |
6: 149,227,580 (GRCm39) |
T209A |
probably benign |
Het |
| Rnf213 |
G |
T |
11: 119,326,831 (GRCm39) |
C1606F |
probably damaging |
Het |
| Sipa1l2 |
A |
G |
8: 126,195,464 (GRCm39) |
V758A |
probably damaging |
Het |
| Slc22a16 |
T |
A |
10: 40,463,603 (GRCm39) |
M451K |
probably damaging |
Het |
| Slc28a1 |
T |
C |
7: 80,803,265 (GRCm39) |
S359P |
probably damaging |
Het |
| Slc45a1 |
G |
T |
4: 150,728,505 (GRCm39) |
F99L |
probably damaging |
Het |
| Sp3 |
A |
T |
2: 72,768,500 (GRCm39) |
N754K |
possibly damaging |
Het |
| Taf4b |
A |
T |
18: 14,940,466 (GRCm39) |
Q315L |
probably damaging |
Het |
| Tcstv2a |
T |
A |
13: 120,725,524 (GRCm39) |
W63R |
probably damaging |
Het |
| Tmprss15 |
A |
T |
16: 78,818,342 (GRCm39) |
N544K |
probably benign |
Het |
| Tnfsf13b |
A |
G |
8: 10,085,358 (GRCm39) |
I283V |
probably benign |
Het |
| Tnfsf14 |
T |
A |
17: 57,497,605 (GRCm39) |
E209V |
possibly damaging |
Het |
| Uckl1 |
T |
G |
2: 181,214,926 (GRCm39) |
S283R |
probably benign |
Het |
| Ush1g |
T |
C |
11: 115,209,294 (GRCm39) |
D300G |
probably damaging |
Het |
| Virma |
C |
T |
4: 11,528,621 (GRCm39) |
A1286V |
probably damaging |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Vmn2r59 |
A |
T |
7: 41,695,629 (GRCm39) |
M261K |
possibly damaging |
Het |
| Vwf |
A |
T |
6: 125,619,212 (GRCm39) |
K1297* |
probably null |
Het |
| Zdbf2 |
G |
A |
1: 63,342,199 (GRCm39) |
E193K |
possibly damaging |
Het |
| Zfp759 |
T |
G |
13: 67,286,830 (GRCm39) |
I127S |
possibly damaging |
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 |
|
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'- CAACCCTGATGTCTTTCAGGACAGC -3'
(R):5'- AAAGCCATGTGCTCCTGCTACC -3'
Sequencing Primer
(F):5'- TATTGGCGAAATATCCCCTTGG -3'
(R):5'- ATGTGCTCCTGCTACCAAGAC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation