Incidental Mutation 'R9480:Cemip2'
| ID |
716213 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cemip2
|
| Ensembl Gene |
ENSMUSG00000024754 |
| Gene Name |
cell migration inducing hyaluronidase 2 |
| Synonyms |
3110012M15Rik, Tmem2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.773)
|
| Stock # |
R9480 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
21755706-21835724 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 21775622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 288
(H288Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025663]
[ENSMUST00000096194]
|
| AlphaFold |
Q5FWI3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025663
AA Change: H288Q
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000025663
Gene: ENSMUSG00000024754
AA Change: H288Q
| 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: H288Q
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000093908
Gene: ENSMUSG00000024754
AA Change: H288Q
| 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: 99.9%
- 10x: 99.6%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
A |
16: 14,211,889 (GRCm39) |
W142R |
probably damaging |
Het |
| Abcc6 |
A |
G |
7: 45,629,197 (GRCm39) |
S1350P |
probably damaging |
Het |
| Abraxas2 |
G |
T |
7: 132,473,323 (GRCm39) |
V84L |
probably benign |
Het |
| Adam12 |
T |
A |
7: 133,736,470 (GRCm39) |
I81F |
probably damaging |
Het |
| Adam22 |
A |
G |
5: 8,193,077 (GRCm39) |
V376A |
probably benign |
Het |
| Anapc11 |
T |
A |
11: 120,496,176 (GRCm39) |
I60N |
probably damaging |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| Atrnl1 |
T |
A |
19: 57,690,420 (GRCm39) |
V876E |
possibly damaging |
Het |
| Bcar3 |
C |
T |
3: 122,277,618 (GRCm39) |
R21* |
probably null |
Het |
| Calb1 |
T |
A |
4: 15,885,608 (GRCm39) |
S60T |
probably benign |
Het |
| Ceacam9 |
A |
G |
7: 16,457,783 (GRCm39) |
T99A |
probably damaging |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,497,338 (GRCm39) |
D213G |
possibly damaging |
Het |
| Col23a1 |
T |
A |
11: 51,207,774 (GRCm39) |
C105S |
unknown |
Het |
| Cxcl2 |
T |
C |
5: 91,052,029 (GRCm39) |
V45A |
possibly damaging |
Het |
| Ddx21 |
T |
C |
10: 62,434,652 (GRCm39) |
T36A |
probably benign |
Het |
| Dlgap4 |
G |
T |
2: 156,546,514 (GRCm39) |
R394L |
possibly damaging |
Het |
| Dus2 |
C |
T |
8: 106,757,052 (GRCm39) |
Q81* |
probably null |
Het |
| Fat3 |
T |
C |
9: 15,942,703 (GRCm39) |
D1223G |
probably damaging |
Het |
| Fgf3 |
G |
T |
7: 144,396,619 (GRCm39) |
R211L |
possibly damaging |
Het |
| Galnt17 |
T |
A |
5: 130,935,576 (GRCm39) |
E369V |
probably damaging |
Het |
| Gatad2a |
T |
C |
8: 70,388,459 (GRCm39) |
D76G |
probably damaging |
Het |
| Gin1 |
A |
G |
1: 97,705,198 (GRCm39) |
E96G |
probably damaging |
Het |
| Gpr55 |
A |
C |
1: 85,868,977 (GRCm39) |
Y201* |
probably null |
Het |
| Hgsnat |
T |
C |
8: 26,442,029 (GRCm39) |
N499D |
possibly damaging |
Het |
| Hipk2 |
G |
T |
6: 38,680,377 (GRCm39) |
P988T |
probably benign |
Het |
| Hivep1 |
A |
T |
13: 42,337,058 (GRCm39) |
Q2379L |
probably damaging |
Het |
| Kat14 |
T |
A |
2: 144,215,745 (GRCm39) |
C77S |
probably damaging |
Het |
| Klhl25 |
T |
C |
7: 75,516,120 (GRCm39) |
V342A |
probably damaging |
Het |
| Krt35 |
T |
C |
11: 99,986,609 (GRCm39) |
Q135R |
probably benign |
Het |
| Lhfpl2 |
T |
A |
13: 94,310,733 (GRCm39) |
M1K |
probably null |
Het |
| Lipk |
T |
A |
19: 33,999,101 (GRCm39) |
L132Q |
probably damaging |
Het |
| Lrrc39 |
T |
A |
3: 116,359,475 (GRCm39) |
C7S |
probably benign |
Het |
| Ltb4r2 |
T |
A |
14: 56,000,089 (GRCm39) |
W237R |
probably damaging |
Het |
| Mesp2 |
A |
G |
7: 79,461,034 (GRCm39) |
I120V |
probably damaging |
Het |
| Mfsd6 |
A |
G |
1: 52,699,835 (GRCm39) |
V771A |
unknown |
Het |
| Mtfmt |
A |
T |
9: 65,351,181 (GRCm39) |
T243S |
possibly damaging |
Het |
| Nlrp12 |
A |
T |
7: 3,288,993 (GRCm39) |
C506* |
probably null |
Het |
| Ntng2 |
T |
A |
2: 29,137,997 (GRCm39) |
Y19F |
probably damaging |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Orc4 |
T |
C |
2: 48,795,563 (GRCm39) |
T388A |
probably benign |
Het |
| P4hb |
A |
T |
11: 120,463,551 (GRCm39) |
V28D |
probably damaging |
Het |
| Phkb |
T |
G |
8: 86,684,216 (GRCm39) |
S424R |
probably benign |
Het |
| Poldip2 |
T |
C |
11: 78,411,988 (GRCm39) |
L308S |
probably damaging |
Het |
| Prkd1 |
T |
A |
12: 50,435,283 (GRCm39) |
E481D |
probably benign |
Het |
| Serping1 |
C |
T |
2: 84,600,487 (GRCm39) |
S285N |
probably benign |
Het |
| Sh2d2a |
A |
C |
3: 87,759,638 (GRCm39) |
I350L |
probably benign |
Het |
| Siglecf |
G |
T |
7: 43,001,666 (GRCm39) |
V159L |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,470,820 (GRCm39) |
N36S |
probably damaging |
Het |
| Sytl2 |
C |
T |
7: 90,020,718 (GRCm39) |
T147M |
possibly damaging |
Het |
| Tmc7 |
A |
G |
7: 118,141,226 (GRCm39) |
F635S |
probably benign |
Het |
| Tmco1 |
C |
T |
1: 167,157,757 (GRCm39) |
L175F |
|
Het |
| Ttc39d |
A |
G |
17: 80,524,139 (GRCm39) |
H266R |
probably benign |
Het |
| Usp33 |
T |
G |
3: 152,079,086 (GRCm39) |
I446R |
possibly damaging |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Zbtb49 |
T |
A |
5: 38,358,409 (GRCm39) |
T615S |
possibly damaging |
Het |
| Zbtb8a |
G |
T |
4: 129,253,875 (GRCm39) |
H206Q |
probably benign |
Het |
| Zfp180 |
A |
G |
7: 23,804,628 (GRCm39) |
N349S |
probably benign |
Het |
| Zfp345 |
A |
T |
2: 150,315,212 (GRCm39) |
C108* |
probably null |
Het |
| Zfp420 |
T |
A |
7: 29,575,497 (GRCm39) |
H572Q |
probably benign |
Het |
| Zfp423 |
A |
G |
8: 88,631,115 (GRCm39) |
|
probably null |
Het |
| Zfp820 |
T |
A |
17: 22,037,994 (GRCm39) |
T445S |
possibly damaging |
Het |
| Zim1 |
T |
C |
7: 6,681,050 (GRCm39) |
I204M |
probably benign |
Het |
| Zpld2 |
G |
A |
4: 133,929,312 (GRCm39) |
P331L |
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 |
|
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 |
|
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'- GTCAGATGAACGTGAAAGTATGCC -3'
(R):5'- TACCTGTAGCCCAGACCTTG -3'
Sequencing Primer
(F):5'- CGGGACACTGGAGTTACAC -3'
(R):5'- AGACCTTGGATCAGTTTACTCC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation