Incidental Mutation 'R1543:Cemip2'
ID |
171964 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cemip2
|
Ensembl Gene |
ENSMUSG00000024754 |
Gene Name |
cell migration inducing hyaluronidase 2 |
Synonyms |
3110012M15Rik, Tmem2 |
MMRRC Submission |
039582-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.773)
|
Stock # |
R1543 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
21755706-21835724 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 21789937 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 668
(A668S)
|
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: A668S
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000025663 Gene: ENSMUSG00000024754 AA Change: A668S
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: A668S
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000093908 Gene: ENSMUSG00000024754 AA Change: A668S
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 |
|
Meta Mutation Damage Score |
0.0627 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.2%
|
Validation Efficiency |
95% (77/81) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810009J06Rik |
G |
A |
6: 40,945,138 (GRCm39) |
V206I |
probably damaging |
Het |
Abca8b |
A |
C |
11: 109,865,500 (GRCm39) |
M319R |
probably damaging |
Het |
Abcc6 |
T |
C |
7: 45,665,928 (GRCm39) |
R231G |
probably benign |
Het |
Acadm |
A |
G |
3: 153,635,209 (GRCm39) |
Y302H |
probably damaging |
Het |
Acox3 |
C |
A |
5: 35,760,352 (GRCm39) |
R423S |
probably damaging |
Het |
Adam7 |
T |
A |
14: 68,759,371 (GRCm39) |
|
probably benign |
Het |
Adgrb3 |
A |
C |
1: 25,527,169 (GRCm39) |
M589R |
probably benign |
Het |
Adgrl2 |
A |
C |
3: 148,564,909 (GRCm39) |
F224V |
probably damaging |
Het |
Adm2 |
G |
C |
15: 89,208,282 (GRCm39) |
G74A |
probably damaging |
Het |
Aen |
T |
A |
7: 78,552,370 (GRCm39) |
V15E |
probably damaging |
Het |
Ankzf1 |
T |
A |
1: 75,169,160 (GRCm39) |
V22D |
possibly damaging |
Het |
Arap2 |
T |
A |
5: 62,763,498 (GRCm39) |
K1549* |
probably null |
Het |
Arhgef11 |
G |
A |
3: 87,620,324 (GRCm39) |
R430H |
probably benign |
Het |
Asb17 |
T |
G |
3: 153,550,148 (GRCm39) |
L60W |
probably damaging |
Het |
BC035044 |
T |
C |
6: 128,867,948 (GRCm39) |
|
probably benign |
Het |
Bltp2 |
A |
G |
11: 78,166,000 (GRCm39) |
T1422A |
probably benign |
Het |
Cacna2d1 |
A |
T |
5: 16,471,716 (GRCm39) |
M254L |
possibly damaging |
Het |
Celf6 |
T |
C |
9: 59,511,160 (GRCm39) |
|
probably benign |
Het |
Coro2b |
C |
T |
9: 62,333,123 (GRCm39) |
V120I |
probably benign |
Het |
Cyp20a1 |
C |
A |
1: 60,415,353 (GRCm39) |
|
probably benign |
Het |
Cyp2c67 |
C |
A |
19: 39,631,708 (GRCm39) |
|
probably benign |
Het |
Dclk3 |
A |
G |
9: 111,297,122 (GRCm39) |
H222R |
probably benign |
Het |
Deaf1 |
A |
G |
7: 140,904,060 (GRCm39) |
S109P |
possibly damaging |
Het |
Dlg5 |
T |
A |
14: 24,194,516 (GRCm39) |
D1675V |
probably damaging |
Het |
Dsg2 |
T |
A |
18: 20,727,268 (GRCm39) |
V605E |
probably benign |
Het |
Dync2i1 |
T |
C |
12: 116,195,404 (GRCm39) |
|
probably benign |
Het |
Frem2 |
A |
T |
3: 53,479,876 (GRCm39) |
I1939N |
possibly damaging |
Het |
Fsip2 |
A |
T |
2: 82,811,931 (GRCm39) |
Y2750F |
possibly damaging |
Het |
Gpr39 |
T |
A |
1: 125,800,161 (GRCm39) |
I304N |
probably damaging |
Het |
Hdac7 |
G |
A |
15: 97,707,410 (GRCm39) |
|
probably benign |
Het |
Hipk1 |
T |
C |
3: 103,685,480 (GRCm39) |
H45R |
probably benign |
Het |
Hyal2 |
T |
C |
9: 107,447,386 (GRCm39) |
L13P |
probably damaging |
Het |
Kdm1b |
C |
T |
13: 47,221,997 (GRCm39) |
R479W |
probably damaging |
Het |
Lilrb4b |
A |
G |
10: 51,357,517 (GRCm39) |
T118A |
probably damaging |
Het |
Lin7a |
C |
A |
10: 107,247,930 (GRCm39) |
F78L |
possibly damaging |
Het |
Lpin3 |
A |
G |
2: 160,737,310 (GRCm39) |
D119G |
possibly damaging |
Het |
Lrp2 |
G |
A |
2: 69,331,074 (GRCm39) |
R1661C |
probably damaging |
Het |
Lrrc45 |
A |
G |
11: 120,610,844 (GRCm39) |
K527E |
probably benign |
Het |
Map10 |
C |
T |
8: 126,397,611 (GRCm39) |
P335S |
probably benign |
Het |
Mast3 |
A |
G |
8: 71,244,955 (GRCm39) |
S2P |
possibly damaging |
Het |
Mbtps1 |
A |
G |
8: 120,268,808 (GRCm39) |
|
probably benign |
Het |
Mms22l |
T |
A |
4: 24,591,084 (GRCm39) |
N1018K |
probably benign |
Het |
Nckipsd |
C |
A |
9: 108,689,571 (GRCm39) |
A244D |
possibly damaging |
Het |
Nt5el |
A |
T |
13: 105,248,877 (GRCm39) |
R364* |
probably null |
Het |
Or12k5 |
C |
A |
2: 36,895,139 (GRCm39) |
L162F |
probably damaging |
Het |
Or1j1 |
A |
T |
2: 36,703,069 (GRCm39) |
F12I |
probably damaging |
Het |
Or4k44 |
A |
G |
2: 111,368,142 (GRCm39) |
V164A |
probably benign |
Het |
Or52j3 |
T |
A |
7: 102,836,421 (GRCm39) |
F204L |
probably benign |
Het |
Or8b12c |
T |
A |
9: 37,715,243 (GRCm39) |
I12N |
possibly damaging |
Het |
Pcx |
A |
T |
19: 4,652,251 (GRCm39) |
D112V |
probably damaging |
Het |
Phf14 |
G |
A |
6: 11,987,682 (GRCm39) |
|
probably null |
Het |
Pkd1l1 |
A |
G |
11: 8,851,200 (GRCm39) |
I744T |
probably damaging |
Het |
Ppip5k2 |
A |
G |
1: 97,668,607 (GRCm39) |
L560P |
probably damaging |
Het |
Psmd14 |
A |
T |
2: 61,615,874 (GRCm39) |
M248L |
probably benign |
Het |
Ryr1 |
T |
G |
7: 28,782,962 (GRCm39) |
E1884A |
possibly damaging |
Het |
Scn4b |
T |
A |
9: 45,061,727 (GRCm39) |
S204R |
probably damaging |
Het |
Slc12a1 |
A |
T |
2: 125,026,777 (GRCm39) |
M471L |
possibly damaging |
Het |
Slc17a5 |
A |
G |
9: 78,468,082 (GRCm39) |
V236A |
probably benign |
Het |
Sobp |
T |
C |
10: 42,897,720 (GRCm39) |
T622A |
probably damaging |
Het |
Spata31d1a |
G |
T |
13: 59,850,056 (GRCm39) |
R691S |
probably benign |
Het |
Speg |
A |
G |
1: 75,398,595 (GRCm39) |
E2014G |
probably damaging |
Het |
Steap4 |
A |
G |
5: 8,025,902 (GRCm39) |
|
probably benign |
Het |
Tas2r144 |
G |
A |
6: 42,192,537 (GRCm39) |
M92I |
probably benign |
Het |
Tbc1d5 |
T |
C |
17: 51,242,560 (GRCm39) |
Q179R |
probably benign |
Het |
Tcf25 |
T |
C |
8: 124,115,326 (GRCm39) |
Y188H |
probably benign |
Het |
Tmem200a |
G |
A |
10: 25,954,518 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Tssk5 |
T |
C |
15: 76,256,409 (GRCm39) |
T337A |
probably benign |
Het |
Ttc23 |
T |
C |
7: 67,328,743 (GRCm39) |
V228A |
probably benign |
Het |
Tulp1 |
A |
T |
17: 28,581,645 (GRCm39) |
|
probably benign |
Het |
Uqcc3 |
A |
G |
19: 8,858,117 (GRCm39) |
F25L |
probably damaging |
Het |
Vmn2r1 |
G |
A |
3: 63,996,994 (GRCm39) |
G217S |
probably damaging |
Het |
Vmn2r120 |
C |
T |
17: 57,829,374 (GRCm39) |
E508K |
probably benign |
Het |
Wdfy3 |
C |
A |
5: 101,991,947 (GRCm39) |
V3451L |
probably benign |
Het |
Wdr19 |
G |
A |
5: 65,382,033 (GRCm39) |
V418I |
probably benign |
Het |
Xirp2 |
C |
T |
2: 67,338,383 (GRCm39) |
T208I |
probably benign |
Het |
Xpnpep1 |
A |
G |
19: 52,980,107 (GRCm39) |
V639A |
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 |
|
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'- TGGAAACTACGTCCCTGTGCCTAC -3'
(R):5'- GCCATTATCCTGGAGACTGCTCAC -3'
Sequencing Primer
(F):5'- TACCACAGACTGCATGTGAG -3'
(R):5'- GGAAGGCAAGAATCATCTCAATTAC -3'
|
Posted On |
2014-04-13 |