Incidental Mutation 'R7336:Cemip2'
| ID |
569539 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cemip2
|
| Ensembl Gene |
ENSMUSG00000024754 |
| Gene Name |
cell migration inducing hyaluronidase 2 |
| Synonyms |
3110012M15Rik, Tmem2 |
| MMRRC Submission |
045426-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.820)
|
| Stock # |
R7336 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
21755706-21835724 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 21803509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 847
(Y847*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025663]
[ENSMUST00000096194]
|
| AlphaFold |
Q5FWI3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025663
AA Change: Y847*
|
| SMART Domains |
Protein: ENSMUSP00000025663
Gene: ENSMUSG00000024754
AA Change: Y847*
| 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 null
Transcript: ENSMUST00000096194
AA Change: Y847*
|
| SMART Domains |
Protein: ENSMUSP00000093908
Gene: ENSMUSG00000024754
AA Change: Y847*
| 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: 98.9%
|
| Validation Efficiency |
99% (80/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
G |
A |
3: 59,840,174 (GRCm39) |
|
probably null |
Het |
| Abca15 |
A |
T |
7: 119,987,456 (GRCm39) |
Q1247H |
possibly damaging |
Het |
| Acsf2 |
G |
C |
11: 94,462,476 (GRCm39) |
Q180E |
probably benign |
Het |
| Adamts8 |
A |
G |
9: 30,873,363 (GRCm39) |
D856G |
probably benign |
Het |
| Agrn |
A |
T |
4: 156,259,371 (GRCm39) |
C828* |
probably null |
Het |
| Ankub1 |
T |
C |
3: 57,573,108 (GRCm39) |
T205A |
probably benign |
Het |
| Atm |
A |
T |
9: 53,373,803 (GRCm39) |
Y2150N |
possibly damaging |
Het |
| Barhl1 |
A |
G |
2: 28,799,855 (GRCm39) |
F257L |
probably benign |
Het |
| Bcat2 |
T |
A |
7: 45,224,909 (GRCm39) |
C27S |
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,978,867 (GRCm39) |
R816C |
probably damaging |
Het |
| Btg3 |
A |
G |
16: 78,161,695 (GRCm39) |
Y172H |
probably benign |
Het |
| Cacna1d |
T |
C |
14: 29,767,239 (GRCm39) |
D1940G |
probably benign |
Het |
| Catsperg2 |
T |
A |
7: 29,406,026 (GRCm39) |
N624I |
possibly damaging |
Het |
| Ccdc146 |
A |
G |
5: 21,508,110 (GRCm39) |
V646A |
probably benign |
Het |
| Ccp110 |
C |
T |
7: 118,321,433 (GRCm39) |
P363S |
probably damaging |
Het |
| Cct4 |
C |
A |
11: 22,951,564 (GRCm39) |
T377K |
possibly damaging |
Het |
| Cep350 |
T |
A |
1: 155,738,022 (GRCm39) |
H2607L |
probably benign |
Het |
| Cfap46 |
A |
G |
7: 139,200,020 (GRCm39) |
F1954L |
unknown |
Het |
| Chat |
C |
T |
14: 32,145,213 (GRCm39) |
|
probably null |
Het |
| Clasp2 |
A |
G |
9: 113,705,421 (GRCm39) |
|
probably null |
Het |
| Cldn9 |
T |
C |
17: 23,901,989 (GRCm39) |
D212G |
probably benign |
Het |
| Cp |
G |
A |
3: 20,018,696 (GRCm39) |
|
probably null |
Het |
| Cyfip1 |
T |
A |
7: 55,576,148 (GRCm39) |
I1108N |
possibly damaging |
Het |
| Dnah14 |
A |
G |
1: 181,625,299 (GRCm39) |
D4060G |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 118,858,570 (GRCm39) |
T595A |
probably damaging |
Het |
| Eps8 |
G |
A |
6: 137,486,211 (GRCm39) |
R434C |
possibly damaging |
Het |
| Fasl |
A |
G |
1: 161,615,557 (GRCm39) |
Y100H |
probably damaging |
Het |
| Fkbp9 |
A |
T |
6: 56,826,712 (GRCm39) |
N104I |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,478,025 (GRCm39) |
T65A |
possibly damaging |
Het |
| Gm1110 |
T |
C |
9: 26,825,653 (GRCm39) |
N102S |
probably damaging |
Het |
| Gm2381 |
T |
C |
7: 42,471,804 (GRCm39) |
Q25R |
possibly damaging |
Het |
| Gtpbp2 |
A |
G |
17: 46,472,239 (GRCm39) |
Y58C |
probably damaging |
Het |
| H2-T3 |
C |
A |
17: 36,498,237 (GRCm39) |
K269N |
probably damaging |
Het |
| Icosl |
C |
A |
10: 77,909,707 (GRCm39) |
Y217* |
probably null |
Het |
| Il17rd |
G |
T |
14: 26,809,503 (GRCm39) |
R153L |
probably benign |
Het |
| Kif17 |
C |
A |
4: 138,025,617 (GRCm39) |
T973K |
possibly damaging |
Het |
| Klk1b16 |
A |
G |
7: 43,790,907 (GRCm39) |
I236M |
probably benign |
Het |
| Lgmn |
G |
A |
12: 102,389,998 (GRCm39) |
|
probably benign |
Het |
| Lmbr1l |
T |
C |
15: 98,811,468 (GRCm39) |
D54G |
possibly damaging |
Het |
| Lrrc49 |
A |
T |
9: 60,584,474 (GRCm39) |
I196N |
possibly damaging |
Het |
| Maml1 |
C |
T |
11: 50,157,276 (GRCm39) |
A300T |
possibly damaging |
Het |
| Mapkap1 |
A |
T |
2: 34,423,829 (GRCm39) |
Q293L |
possibly damaging |
Het |
| Mki67 |
T |
C |
7: 135,315,568 (GRCm39) |
T69A |
probably benign |
Het |
| Mlph |
G |
A |
1: 90,849,705 (GRCm39) |
|
probably null |
Het |
| Myh1 |
A |
T |
11: 67,111,435 (GRCm39) |
M1625L |
probably benign |
Het |
| Myh3 |
G |
T |
11: 66,981,847 (GRCm39) |
R781L |
probably benign |
Het |
| Nckap5 |
A |
T |
1: 125,953,786 (GRCm39) |
I922K |
probably benign |
Het |
| Nlrp5 |
T |
A |
7: 23,117,059 (GRCm39) |
M261K |
probably damaging |
Het |
| Or1e1d-ps1 |
G |
A |
11: 73,819,663 (GRCm39) |
M204I |
probably benign |
Het |
| Or4f47 |
A |
T |
2: 111,972,514 (GRCm39) |
S75C |
possibly damaging |
Het |
| Or5af1 |
T |
A |
11: 58,722,750 (GRCm39) |
Y257N |
probably damaging |
Het |
| Or8g52 |
A |
G |
9: 39,630,906 (GRCm39) |
N128D |
probably benign |
Het |
| Pak1 |
T |
A |
7: 97,538,179 (GRCm39) |
V262E |
probably benign |
Het |
| Pigw |
A |
T |
11: 84,767,930 (GRCm39) |
D466E |
probably damaging |
Het |
| Pira2 |
A |
T |
7: 3,847,344 (GRCm39) |
L115Q |
probably damaging |
Het |
| Rbm15 |
A |
C |
3: 107,240,432 (GRCm39) |
|
probably benign |
Het |
| Rfx1 |
A |
G |
8: 84,800,385 (GRCm39) |
|
probably benign |
Het |
| Rfx7 |
A |
G |
9: 72,500,639 (GRCm39) |
Y133C |
probably damaging |
Het |
| Serpinb9d |
T |
A |
13: 33,384,702 (GRCm39) |
D226E |
probably benign |
Het |
| Sgk3 |
G |
A |
1: 9,954,701 (GRCm39) |
A271T |
possibly damaging |
Het |
| Sh2d5 |
T |
A |
4: 137,984,150 (GRCm39) |
C173S |
probably benign |
Het |
| Skint8 |
T |
C |
4: 111,796,769 (GRCm39) |
V291A |
probably benign |
Het |
| Slc22a27 |
T |
A |
19: 7,904,054 (GRCm39) |
N28Y |
probably benign |
Het |
| Slc25a54 |
G |
A |
3: 109,023,751 (GRCm39) |
V449I |
probably benign |
Het |
| Slc39a9 |
T |
C |
12: 80,726,316 (GRCm39) |
F255S |
probably damaging |
Het |
| Spata31d1c |
C |
T |
13: 65,183,942 (GRCm39) |
H495Y |
probably damaging |
Het |
| Stab2 |
G |
A |
10: 86,805,049 (GRCm39) |
Q310* |
probably null |
Het |
| Supt16 |
C |
A |
14: 52,408,948 (GRCm39) |
A809S |
possibly damaging |
Het |
| Tenm3 |
A |
T |
8: 48,689,212 (GRCm39) |
M2125K |
possibly damaging |
Het |
| Tex2 |
G |
A |
11: 106,439,685 (GRCm39) |
T565M |
unknown |
Het |
| Tll1 |
G |
A |
8: 64,478,176 (GRCm39) |
A859V |
probably damaging |
Het |
| Tmem106c |
C |
T |
15: 97,867,512 (GRCm39) |
T232I |
possibly damaging |
Het |
| Trim65 |
T |
G |
11: 116,019,116 (GRCm39) |
D141A |
probably benign |
Het |
| Trim80 |
T |
C |
11: 115,332,042 (GRCm39) |
F78S |
probably damaging |
Het |
| Txnrd1 |
T |
A |
10: 82,709,051 (GRCm39) |
I83N |
probably benign |
Het |
| Vnn3 |
G |
A |
10: 23,727,806 (GRCm39) |
G72D |
probably benign |
Het |
| Wasl |
G |
T |
6: 24,619,686 (GRCm39) |
P278Q |
unknown |
Het |
| Wdr62 |
A |
T |
7: 29,943,342 (GRCm39) |
L951Q |
probably damaging |
Het |
| Zfp760 |
C |
T |
17: 21,942,814 (GRCm39) |
T663I |
unknown |
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 |
|
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'- CATCGTTGCTTGAGGCTAATCAG -3'
(R):5'- ACGGTAACAGTGAGTGCTG -3'
Sequencing Primer
(F):5'- AATTACAGCTTCACTTCTTTTGGGG -3'
(R):5'- TAACAGTGAGTGCTGGTACCC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation