Incidental Mutation 'R2021:Cemip2'
| ID |
224054 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cemip2
|
| Ensembl Gene |
ENSMUSG00000024754 |
| Gene Name |
cell migration inducing hyaluronidase 2 |
| Synonyms |
3110012M15Rik, Tmem2 |
| MMRRC Submission |
040030-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.819)
|
| Stock # |
R2021 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
21778342-21858327 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 21844750 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 1170
(A1170T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093908
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025663]
[ENSMUST00000096194]
|
| AlphaFold |
Q5FWI3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025663
AA Change: A1170T
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000025663
Gene: ENSMUSG00000024754
AA Change: A1170T
| 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: A1170T
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000093908
Gene: ENSMUSG00000024754
AA Change: A1170T
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600015I10Rik |
T |
C |
6: 48,931,451 (GRCm38) |
S462P |
probably damaging |
Het |
| Ablim1 |
A |
T |
19: 57,047,018 (GRCm38) |
S316T |
probably damaging |
Het |
| Alox8 |
C |
T |
11: 69,186,288 (GRCm38) |
V460I |
probably damaging |
Het |
| Arvcf |
G |
A |
16: 18,399,732 (GRCm38) |
A491T |
probably damaging |
Het |
| Asnsd1 |
A |
G |
1: 53,347,227 (GRCm38) |
S414P |
possibly damaging |
Het |
| Btbd7 |
A |
G |
12: 102,790,709 (GRCm38) |
L706P |
probably damaging |
Het |
| Camk2d |
T |
A |
3: 126,780,456 (GRCm38) |
W171R |
probably damaging |
Het |
| Casc3 |
T |
A |
11: 98,821,506 (GRCm38) |
S124T |
probably benign |
Het |
| Casp8ap2 |
T |
C |
4: 32,644,560 (GRCm38) |
V1211A |
probably benign |
Het |
| Ccdc182 |
T |
C |
11: 88,294,136 (GRCm38) |
V14A |
possibly damaging |
Het |
| Ccdc80 |
A |
T |
16: 45,122,912 (GRCm38) |
Q795L |
probably damaging |
Het |
| Ccdc88a |
T |
G |
11: 29,503,480 (GRCm38) |
S1614R |
probably damaging |
Het |
| Clcn6 |
A |
G |
4: 148,010,652 (GRCm38) |
|
probably null |
Het |
| Cubn |
A |
G |
2: 13,308,549 (GRCm38) |
V3070A |
probably benign |
Het |
| Dst |
G |
A |
1: 34,166,291 (GRCm38) |
V1025I |
possibly damaging |
Het |
| Dynlt4 |
A |
G |
4: 117,128,307 (GRCm38) |
E109G |
possibly damaging |
Het |
| Elk3 |
T |
A |
10: 93,265,677 (GRCm38) |
I71F |
probably damaging |
Het |
| Flt3 |
A |
T |
5: 147,369,490 (GRCm38) |
I276N |
probably damaging |
Het |
| Frem1 |
G |
T |
4: 82,913,558 (GRCm38) |
T1988K |
probably benign |
Het |
| Golph3l |
T |
A |
3: 95,617,357 (GRCm38) |
D306E |
probably benign |
Het |
| Grk2 |
T |
A |
19: 4,290,670 (GRCm38) |
I254F |
probably damaging |
Het |
| Hgf |
C |
T |
5: 16,576,921 (GRCm38) |
T214I |
probably benign |
Het |
| Hoxc5 |
C |
A |
15: 103,014,382 (GRCm38) |
|
probably null |
Het |
| Hsd11b1 |
T |
C |
1: 193,240,378 (GRCm38) |
T124A |
probably benign |
Het |
| Ipp |
A |
G |
4: 116,515,368 (GRCm38) |
Y198C |
probably benign |
Het |
| Ism1 |
T |
A |
2: 139,740,127 (GRCm38) |
|
probably null |
Het |
| Klhl42 |
A |
G |
6: 147,091,896 (GRCm38) |
Y122C |
possibly damaging |
Het |
| Klk1b21 |
A |
T |
7: 44,105,994 (GRCm38) |
K206* |
probably null |
Het |
| Lcn11 |
A |
G |
2: 25,778,085 (GRCm38) |
K85R |
probably benign |
Het |
| Macf1 |
G |
T |
4: 123,472,730 (GRCm38) |
A2746E |
probably damaging |
Het |
| Matn4 |
A |
G |
2: 164,400,653 (GRCm38) |
V175A |
probably damaging |
Het |
| Myh2 |
A |
T |
11: 67,191,719 (GRCm38) |
N1372Y |
probably damaging |
Het |
| Ncl |
A |
G |
1: 86,356,955 (GRCm38) |
|
probably null |
Het |
| Nudt2 |
A |
G |
4: 41,480,255 (GRCm38) |
D46G |
probably damaging |
Het |
| Obscn |
C |
T |
11: 59,067,174 (GRCm38) |
D3567N |
probably benign |
Het |
| Or1j17 |
G |
C |
2: 36,688,475 (GRCm38) |
V158L |
probably benign |
Het |
| Or2z9 |
G |
T |
8: 72,100,086 (GRCm38) |
V109F |
possibly damaging |
Het |
| Or4a72 |
A |
T |
2: 89,574,961 (GRCm38) |
M255K |
possibly damaging |
Het |
| Pamr1 |
T |
A |
2: 102,634,535 (GRCm38) |
M343K |
probably benign |
Het |
| Pcdh15 |
T |
G |
10: 74,631,193 (GRCm38) |
S1684A |
possibly damaging |
Het |
| Ppm1h |
T |
A |
10: 122,878,528 (GRCm38) |
L324* |
probably null |
Het |
| Ppp3r2 |
T |
C |
4: 49,681,723 (GRCm38) |
I76V |
probably benign |
Het |
| Prkdc |
G |
A |
16: 15,677,009 (GRCm38) |
V748I |
probably benign |
Het |
| Prss47 |
A |
G |
13: 65,051,777 (GRCm38) |
V96A |
probably benign |
Het |
| Rsbn1 |
C |
T |
3: 103,914,473 (GRCm38) |
T8I |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCGGCG |
7: 97,579,906 (GRCm38) |
|
probably benign |
Het |
| Serpinb3d |
A |
G |
1: 107,078,452 (GRCm38) |
V302A |
probably benign |
Het |
| Sfrp4 |
A |
T |
13: 19,632,326 (GRCm38) |
I177F |
probably benign |
Het |
| Sh3bp2 |
A |
G |
5: 34,544,225 (GRCm38) |
|
probably benign |
Het |
| Slc7a12 |
A |
G |
3: 14,497,333 (GRCm38) |
T257A |
probably damaging |
Het |
| Spata31e5 |
A |
T |
1: 28,778,153 (GRCm38) |
V266D |
probably damaging |
Het |
| Specc1l |
T |
C |
10: 75,267,591 (GRCm38) |
|
probably null |
Het |
| Stard9 |
A |
G |
2: 120,704,235 (GRCm38) |
T3658A |
probably benign |
Het |
| Styxl2 |
A |
T |
1: 166,100,823 (GRCm38) |
W407R |
probably benign |
Het |
| Tmem30c |
T |
C |
16: 57,281,362 (GRCm38) |
T68A |
probably damaging |
Het |
| Tnr |
A |
G |
1: 159,852,022 (GRCm38) |
I189V |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,853,488 (GRCm38) |
N3586S |
possibly damaging |
Het |
| Usp14 |
T |
C |
18: 10,024,632 (GRCm38) |
T22A |
probably damaging |
Het |
| Vmn1r68 |
A |
G |
7: 10,527,991 (GRCm38) |
L60P |
probably damaging |
Het |
| Vmn2r108 |
G |
A |
17: 20,470,990 (GRCm38) |
H424Y |
probably benign |
Het |
| Wdr81 |
C |
A |
11: 75,445,962 (GRCm38) |
E1534* |
probably null |
Het |
| Zc3h13 |
A |
G |
14: 75,330,195 (GRCm38) |
E976G |
probably damaging |
Het |
| Zfp128 |
T |
C |
7: 12,890,029 (GRCm38) |
L108P |
possibly damaging |
Het |
| Zfp644 |
T |
C |
5: 106,635,682 (GRCm38) |
I1000V |
possibly damaging |
Het |
|
| Other mutations in Cemip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01319:Cemip2
|
APN |
19 |
21,844,757 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL01528:Cemip2
|
APN |
19 |
21,835,545 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01642:Cemip2
|
APN |
19 |
21,823,901 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01693:Cemip2
|
APN |
19 |
21,801,887 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02437:Cemip2
|
APN |
19 |
21,811,978 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02869:Cemip2
|
APN |
19 |
21,811,877 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02880:Cemip2
|
APN |
19 |
21,823,843 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
IGL02904:Cemip2
|
APN |
19 |
21,823,843 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
IGL02941:Cemip2
|
APN |
19 |
21,823,843 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
IGL02950:Cemip2
|
APN |
19 |
21,842,200 (GRCm38) |
missense |
probably benign |
0.07 |
|
IGL03066:Cemip2
|
APN |
19 |
21,823,843 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
IGL03120:Cemip2
|
APN |
19 |
21,823,843 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R0005:Cemip2
|
UTSW |
19 |
21,812,220 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0496:Cemip2
|
UTSW |
19 |
21,797,345 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R0557:Cemip2
|
UTSW |
19 |
21,811,903 (GRCm38) |
missense |
probably benign |
0.05 |
|
R0620:Cemip2
|
UTSW |
19 |
21,817,971 (GRCm38) |
missense |
probably benign |
|
|
R1271:Cemip2
|
UTSW |
19 |
21,823,904 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1435:Cemip2
|
UTSW |
19 |
21,844,706 (GRCm38) |
missense |
probably benign |
|
|
R1543:Cemip2
|
UTSW |
19 |
21,812,573 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1558:Cemip2
|
UTSW |
19 |
21,797,982 (GRCm38) |
nonsense |
probably null |
|
|
R1658:Cemip2
|
UTSW |
19 |
21,801,879 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1744:Cemip2
|
UTSW |
19 |
21,832,137 (GRCm38) |
nonsense |
probably null |
|
|
R1859:Cemip2
|
UTSW |
19 |
21,847,977 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R1943:Cemip2
|
UTSW |
19 |
21,848,040 (GRCm38) |
splice site |
probably null |
|
|
R2001:Cemip2
|
UTSW |
19 |
21,801,987 (GRCm38) |
missense |
probably benign |
0.43 |
|
R2177:Cemip2
|
UTSW |
19 |
21,811,785 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R2183:Cemip2
|
UTSW |
19 |
21,823,793 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R2921:Cemip2
|
UTSW |
19 |
21,817,939 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R2922:Cemip2
|
UTSW |
19 |
21,817,939 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R2923:Cemip2
|
UTSW |
19 |
21,817,939 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R3727:Cemip2
|
UTSW |
19 |
21,844,711 (GRCm38) |
missense |
probably benign |
|
|
R3730:Cemip2
|
UTSW |
19 |
21,826,117 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R3790:Cemip2
|
UTSW |
19 |
21,807,452 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3831:Cemip2
|
UTSW |
19 |
21,847,951 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R3858:Cemip2
|
UTSW |
19 |
21,852,234 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3859:Cemip2
|
UTSW |
19 |
21,852,234 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3899:Cemip2
|
UTSW |
19 |
21,852,234 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4096:Cemip2
|
UTSW |
19 |
21,792,652 (GRCm38) |
start codon destroyed |
probably null |
0.99 |
|
R4206:Cemip2
|
UTSW |
19 |
21,842,115 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4480:Cemip2
|
UTSW |
19 |
21,815,489 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4667:Cemip2
|
UTSW |
19 |
21,844,781 (GRCm38) |
missense |
probably benign |
|
|
R4667:Cemip2
|
UTSW |
19 |
21,797,351 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4888:Cemip2
|
UTSW |
19 |
21,856,164 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4914:Cemip2
|
UTSW |
19 |
21,809,289 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5030:Cemip2
|
UTSW |
19 |
21,842,105 (GRCm38) |
missense |
probably benign |
|
|
R5329:Cemip2
|
UTSW |
19 |
21,798,329 (GRCm38) |
missense |
probably benign |
0.30 |
|
R5977:Cemip2
|
UTSW |
19 |
21,826,083 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6013:Cemip2
|
UTSW |
19 |
21,832,039 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6049:Cemip2
|
UTSW |
19 |
21,826,126 (GRCm38) |
missense |
probably benign |
|
|
R6199:Cemip2
|
UTSW |
19 |
21,844,822 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6215:Cemip2
|
UTSW |
19 |
21,812,387 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6273:Cemip2
|
UTSW |
19 |
21,802,005 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6429:Cemip2
|
UTSW |
19 |
21,801,908 (GRCm38) |
missense |
probably benign |
0.14 |
|
R6547:Cemip2
|
UTSW |
19 |
21,844,831 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6630:Cemip2
|
UTSW |
19 |
21,852,229 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6870:Cemip2
|
UTSW |
19 |
21,832,123 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7276:Cemip2
|
UTSW |
19 |
21,835,460 (GRCm38) |
missense |
probably benign |
0.14 |
|
R7336:Cemip2
|
UTSW |
19 |
21,826,145 (GRCm38) |
nonsense |
probably null |
|
|
R7363:Cemip2
|
UTSW |
19 |
21,856,211 (GRCm38) |
missense |
probably benign |
|
|
R7678:Cemip2
|
UTSW |
19 |
21,798,116 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7727:Cemip2
|
UTSW |
19 |
21,829,957 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7820:Cemip2
|
UTSW |
19 |
21,807,461 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7837:Cemip2
|
UTSW |
19 |
21,798,021 (GRCm38) |
missense |
probably benign |
0.40 |
|
R7859:Cemip2
|
UTSW |
19 |
21,832,175 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7954:Cemip2
|
UTSW |
19 |
21,792,900 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7964:Cemip2
|
UTSW |
19 |
21,798,430 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8058:Cemip2
|
UTSW |
19 |
21,852,331 (GRCm38) |
missense |
probably benign |
0.12 |
|
R8251:Cemip2
|
UTSW |
19 |
21,807,401 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R8746:Cemip2
|
UTSW |
19 |
21,826,101 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8820:Cemip2
|
UTSW |
19 |
21,807,454 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8931:Cemip2
|
UTSW |
19 |
21,792,959 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9022:Cemip2
|
UTSW |
19 |
21,812,622 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9354:Cemip2
|
UTSW |
19 |
21,802,025 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9480:Cemip2
|
UTSW |
19 |
21,798,258 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R9495:Cemip2
|
UTSW |
19 |
21,801,885 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9593:Cemip2
|
UTSW |
19 |
21,826,089 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9705:Cemip2
|
UTSW |
19 |
21,807,424 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9740:Cemip2
|
UTSW |
19 |
21,844,741 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1177:Cemip2
|
UTSW |
19 |
21,855,729 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGCGAAATATCCCCTTGGC -3'
(R):5'- GCATGGATAGATGTTTCAAAGCC -3'
Sequencing Primer
(F):5'- CCCTTGGCCATGAATCAAGTTGAG -3'
(R):5'- GGATAGATGTTTCAAAGCCATGTGC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation