Incidental Mutation 'R7363:Cemip2'
ID |
571507 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cemip2
|
Ensembl Gene |
ENSMUSG00000024754 |
Gene Name |
cell migration inducing hyaluronidase 2 |
Synonyms |
3110012M15Rik, Tmem2 |
MMRRC Submission |
045448-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.820)
|
Stock # |
R7363 (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 C
at 21833575 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 1338
(F1338L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025663
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025663]
[ENSMUST00000096194]
|
AlphaFold |
Q5FWI3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025663
AA Change: F1338L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000025663 Gene: ENSMUSG00000024754 AA Change: F1338L
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: F1338L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000093908 Gene: ENSMUSG00000024754 AA Change: F1338L
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: 99.0%
|
Validation Efficiency |
100% (72/72) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930568D16Rik |
T |
A |
2: 35,244,782 (GRCm39) |
N190I |
probably damaging |
Het |
Ablim1 |
G |
T |
19: 57,204,173 (GRCm39) |
L73I |
probably benign |
Het |
Adamts4 |
A |
T |
1: 171,086,608 (GRCm39) |
Q800L |
probably benign |
Het |
Atm |
A |
T |
9: 53,376,598 (GRCm39) |
I2014N |
probably damaging |
Het |
Atp2a1 |
A |
G |
7: 126,062,061 (GRCm39) |
C12R |
possibly damaging |
Het |
B3galnt1 |
A |
T |
3: 69,483,157 (GRCm39) |
Y35N |
probably damaging |
Het |
Bnc2 |
A |
T |
4: 84,210,308 (GRCm39) |
M687K |
probably benign |
Het |
Cacna2d4 |
A |
G |
6: 119,320,939 (GRCm39) |
Y917C |
probably damaging |
Het |
Ces2e |
A |
G |
8: 105,659,632 (GRCm39) |
|
probably null |
Het |
Cldn23 |
A |
G |
8: 36,292,659 (GRCm39) |
|
probably null |
Het |
Cntn5 |
G |
T |
9: 10,172,021 (GRCm39) |
S54R |
probably benign |
Het |
Cyria |
T |
A |
12: 12,390,665 (GRCm39) |
|
probably null |
Het |
Dido1 |
G |
T |
2: 180,304,310 (GRCm39) |
S1198* |
probably null |
Het |
Dnah12 |
A |
G |
14: 26,445,766 (GRCm39) |
M776V |
probably benign |
Het |
Dnah14 |
A |
G |
1: 181,518,089 (GRCm39) |
|
probably null |
Het |
Dnttip1 |
GGGCCGGC |
GGGC |
2: 164,599,605 (GRCm39) |
|
probably null |
Het |
Dusp28 |
A |
T |
1: 92,834,861 (GRCm39) |
T29S |
probably benign |
Het |
Erich1 |
A |
T |
8: 14,083,688 (GRCm39) |
S127R |
probably benign |
Het |
Fam151a |
T |
A |
4: 106,602,681 (GRCm39) |
L200H |
probably damaging |
Het |
Fbxw8 |
A |
T |
5: 118,263,057 (GRCm39) |
H207Q |
probably damaging |
Het |
Fgf22 |
A |
G |
10: 79,592,676 (GRCm39) |
E116G |
probably benign |
Het |
Gapvd1 |
C |
A |
2: 34,602,207 (GRCm39) |
V647F |
probably benign |
Het |
Garin4 |
A |
T |
1: 190,895,910 (GRCm39) |
S244R |
probably damaging |
Het |
Gja4 |
T |
A |
4: 127,206,487 (GRCm39) |
Y92F |
probably damaging |
Het |
Gtf3c2 |
G |
A |
5: 31,327,600 (GRCm39) |
R288W |
probably damaging |
Het |
Hira |
G |
T |
16: 18,716,532 (GRCm39) |
R99L |
possibly damaging |
Het |
Ighv16-1 |
C |
T |
12: 114,032,721 (GRCm39) |
G27D |
probably damaging |
Het |
Igkv1-133 |
C |
T |
6: 67,702,395 (GRCm39) |
P38S |
probably benign |
Het |
Igkv4-59 |
T |
C |
6: 69,415,396 (GRCm39) |
Y53C |
probably damaging |
Het |
Il23a |
T |
C |
10: 128,133,020 (GRCm39) |
E113G |
probably damaging |
Het |
Kcnip1 |
A |
G |
11: 33,584,589 (GRCm39) |
V188A |
probably benign |
Het |
L3mbtl3 |
T |
C |
10: 26,216,850 (GRCm39) |
K155E |
unknown |
Het |
Lancl2 |
T |
G |
6: 57,699,664 (GRCm39) |
C169G |
probably benign |
Het |
Lrrc26 |
A |
G |
2: 25,180,581 (GRCm39) |
D194G |
probably benign |
Het |
Lrrfip1 |
C |
T |
1: 91,050,842 (GRCm39) |
A545V |
probably benign |
Het |
Lrtm1 |
T |
C |
14: 28,743,850 (GRCm39) |
F106S |
probably damaging |
Het |
Lypd2 |
A |
T |
15: 74,604,848 (GRCm39) |
M49K |
probably damaging |
Het |
Mbd1 |
A |
C |
18: 74,406,357 (GRCm39) |
D63A |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,691,729 (GRCm39) |
F990L |
probably damaging |
Het |
Mtfr1l |
T |
C |
4: 134,256,577 (GRCm39) |
E196G |
probably benign |
Het |
Myh10 |
A |
G |
11: 68,705,874 (GRCm39) |
T2007A |
probably benign |
Het |
Nckap1 |
G |
A |
2: 80,370,512 (GRCm39) |
R393C |
probably damaging |
Het |
Nup205 |
C |
T |
6: 35,209,508 (GRCm39) |
T1605M |
probably benign |
Het |
Or1e33 |
T |
C |
11: 73,738,741 (GRCm39) |
D70G |
probably damaging |
Het |
Or5j3 |
GTACTTTTT |
GT |
2: 86,128,338 (GRCm39) |
|
probably null |
Het |
Pgap2 |
T |
A |
7: 101,875,467 (GRCm39) |
|
probably null |
Het |
Pitrm1 |
A |
G |
13: 6,619,387 (GRCm39) |
S741G |
probably benign |
Het |
Plcd4 |
A |
T |
1: 74,590,231 (GRCm39) |
S155C |
probably null |
Het |
Poc5 |
A |
T |
13: 96,540,925 (GRCm39) |
T365S |
possibly damaging |
Het |
Ppp2r5c |
G |
A |
12: 110,489,041 (GRCm39) |
A71T |
probably benign |
Het |
Prdm6 |
T |
A |
18: 53,598,199 (GRCm39) |
I187N |
possibly damaging |
Het |
Pxk |
A |
G |
14: 8,152,118 (GRCm38) |
Q478R |
probably benign |
Het |
Rgl1 |
T |
C |
1: 152,394,914 (GRCm39) |
Y718C |
probably damaging |
Het |
Ring1 |
G |
T |
17: 34,243,336 (GRCm39) |
T2K |
possibly damaging |
Het |
Sdk1 |
A |
G |
5: 142,173,897 (GRCm39) |
S2022G |
probably benign |
Het |
Sec61a1 |
C |
A |
6: 88,492,533 (GRCm39) |
V32F |
probably benign |
Het |
Sv2b |
G |
A |
7: 74,797,402 (GRCm39) |
P331S |
probably damaging |
Het |
Syne1 |
T |
C |
10: 5,090,970 (GRCm39) |
S795G |
possibly damaging |
Het |
Tmod2 |
T |
C |
9: 75,484,023 (GRCm39) |
E309G |
probably damaging |
Het |
Tpp2 |
T |
G |
1: 44,024,582 (GRCm39) |
S987A |
probably benign |
Het |
Trim75 |
G |
C |
8: 65,435,539 (GRCm39) |
H304D |
probably damaging |
Het |
Trp53bp2 |
G |
T |
1: 182,272,231 (GRCm39) |
D447Y |
probably damaging |
Het |
Ube3a |
A |
G |
7: 58,936,751 (GRCm39) |
K697E |
probably benign |
Het |
Vmn2r13 |
T |
A |
5: 109,339,909 (GRCm39) |
H22L |
probably benign |
Het |
Vmn2r4 |
G |
A |
3: 64,314,432 (GRCm39) |
S183F |
probably damaging |
Het |
Vwa8 |
T |
C |
14: 79,256,147 (GRCm39) |
Y721H |
probably benign |
Het |
Wbp1l |
C |
T |
19: 46,642,569 (GRCm39) |
P190L |
possibly damaging |
Het |
Zcchc4 |
A |
T |
5: 52,942,510 (GRCm39) |
Q105L |
possibly damaging |
Het |
Zfp236 |
T |
C |
18: 82,639,456 (GRCm39) |
R1264G |
probably damaging |
Het |
Zfpm2 |
T |
A |
15: 40,616,413 (GRCm39) |
N54K |
probably damaging |
Het |
Zkscan3 |
C |
T |
13: 21,571,992 (GRCm39) |
G547S |
probably 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 |
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 |
|
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'- CATTTGGGAGGCAGGAGTTC -3'
(R):5'- CCATCGGGTTAACAGTGTTGTC -3'
Sequencing Primer
(F):5'- CATTGTTGATGTAAGGAAGTGCAG -3'
(R):5'- CATCTGCAACGGGAGAAA -3'
|
Posted On |
2019-09-13 |