Incidental Mutation 'R5030:Cemip2'
| ID |
391669 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cemip2
|
| Ensembl Gene |
ENSMUSG00000024754 |
| Gene Name |
cell migration inducing hyaluronidase 2 |
| Synonyms |
3110012M15Rik, Tmem2 |
| MMRRC Submission |
042621-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.820)
|
| Stock # |
R5030 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
21755706-21835724 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 21819469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 1087
(F1087V)
|
| 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: F1087V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000025663
Gene: ENSMUSG00000024754
AA Change: F1087V
| 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: F1087V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000093908
Gene: ENSMUSG00000024754
AA Change: F1087V
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
98% (87/89) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930584F24Rik |
A |
C |
5: 26,684,783 (GRCm39) |
|
noncoding transcript |
Het |
| Abca15 |
A |
T |
7: 119,939,224 (GRCm39) |
E206V |
probably damaging |
Het |
| Acy1 |
A |
G |
9: 106,310,596 (GRCm39) |
F343L |
probably benign |
Het |
| Adam22 |
T |
C |
5: 8,229,645 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,607,948 (GRCm39) |
D4041E |
probably benign |
Het |
| Akr1c14 |
T |
C |
13: 4,129,102 (GRCm39) |
S166P |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,604,946 (GRCm39) |
C2199S |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,431,409 (GRCm39) |
Y316* |
probably null |
Het |
| Atp1a1 |
T |
C |
3: 101,487,133 (GRCm39) |
D892G |
probably benign |
Het |
| Auts2 |
A |
G |
5: 131,472,336 (GRCm39) |
V581A |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 36,997,548 (GRCm39) |
|
probably benign |
Het |
| Boll |
T |
A |
1: 55,394,894 (GRCm39) |
N57I |
probably damaging |
Het |
| C1s2 |
A |
C |
6: 124,612,547 (GRCm39) |
V36G |
possibly damaging |
Het |
| Capza1 |
T |
C |
3: 104,748,154 (GRCm39) |
Y70C |
probably damaging |
Het |
| Carnmt1 |
T |
C |
19: 18,668,950 (GRCm39) |
S292P |
possibly damaging |
Het |
| Cyp2g1 |
T |
G |
7: 26,520,226 (GRCm39) |
V486G |
probably benign |
Het |
| Dennd6b |
T |
A |
15: 89,080,454 (GRCm39) |
T49S |
possibly damaging |
Het |
| Dhx58 |
A |
T |
11: 100,586,963 (GRCm39) |
I610N |
probably damaging |
Het |
| Elapor2 |
T |
A |
5: 9,478,502 (GRCm39) |
N455K |
probably damaging |
Het |
| Fam170a |
T |
A |
18: 50,415,021 (GRCm39) |
N222K |
probably benign |
Het |
| Fbn1 |
A |
G |
2: 125,254,624 (GRCm39) |
V213A |
possibly damaging |
Het |
| Frem3 |
A |
C |
8: 81,339,876 (GRCm39) |
D723A |
possibly damaging |
Het |
| Fsip2 |
A |
T |
2: 82,818,836 (GRCm39) |
K4856N |
possibly damaging |
Het |
| Galnt17 |
A |
G |
5: 130,905,351 (GRCm39) |
V571A |
probably damaging |
Het |
| Gm6124 |
A |
G |
7: 38,872,454 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8973 |
A |
G |
15: 98,904,136 (GRCm39) |
|
noncoding transcript |
Het |
| Gpd2 |
A |
G |
2: 57,194,417 (GRCm39) |
T107A |
probably damaging |
Het |
| Hsd17b11 |
G |
A |
5: 104,151,158 (GRCm39) |
A192V |
probably damaging |
Het |
| Igkv6-25 |
C |
T |
6: 70,192,426 (GRCm39) |
Q4* |
probably null |
Het |
| Kalrn |
A |
G |
16: 33,796,112 (GRCm39) |
I1221T |
probably benign |
Het |
| Klhl9 |
G |
T |
4: 88,638,771 (GRCm39) |
T490K |
possibly damaging |
Het |
| Lnpep |
A |
G |
17: 17,799,571 (GRCm39) |
V28A |
probably damaging |
Het |
| Lrrc37 |
G |
A |
11: 103,425,675 (GRCm39) |
P1419S |
unknown |
Het |
| Man2c1 |
A |
G |
9: 57,047,923 (GRCm39) |
H843R |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,570,682 (GRCm39) |
K680E |
unknown |
Het |
| Metap2 |
A |
T |
10: 93,715,539 (GRCm39) |
|
probably null |
Het |
| Mfsd2a |
A |
T |
4: 122,843,949 (GRCm39) |
I340N |
possibly damaging |
Het |
| Mgll |
T |
C |
6: 88,795,647 (GRCm39) |
|
probably null |
Het |
| Myh9 |
A |
G |
15: 77,691,998 (GRCm39) |
|
probably benign |
Het |
| Ncapd3 |
A |
T |
9: 26,983,062 (GRCm39) |
I937F |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,224,504 (GRCm39) |
|
probably benign |
Het |
| Nova1 |
A |
G |
12: 46,747,030 (GRCm39) |
S416P |
probably damaging |
Het |
| Oosp3 |
T |
C |
19: 11,678,308 (GRCm39) |
W95R |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2t26 |
A |
T |
11: 49,039,188 (GRCm39) |
M35L |
probably benign |
Het |
| Or5p76 |
T |
A |
7: 108,122,384 (GRCm39) |
I258F |
possibly damaging |
Het |
| Or7e175 |
A |
T |
9: 20,049,363 (GRCm39) |
K317M |
probably benign |
Het |
| Pcdha7 |
T |
A |
18: 37,108,501 (GRCm39) |
S509T |
probably damaging |
Het |
| Pdgfrb |
T |
C |
18: 61,198,207 (GRCm39) |
V296A |
probably benign |
Het |
| Pdzd2 |
A |
T |
15: 12,592,494 (GRCm39) |
L50* |
probably null |
Het |
| Plcl2 |
G |
T |
17: 50,914,347 (GRCm39) |
R452L |
possibly damaging |
Het |
| Poldip3 |
A |
T |
15: 83,022,392 (GRCm39) |
F131I |
possibly damaging |
Het |
| Pwwp3a |
T |
C |
10: 80,076,209 (GRCm39) |
|
probably benign |
Het |
| Rffl |
G |
A |
11: 82,703,543 (GRCm39) |
R127* |
probably null |
Het |
| Sec24d |
T |
A |
3: 123,152,550 (GRCm39) |
V854E |
probably damaging |
Het |
| Sgo2a |
T |
A |
1: 58,056,918 (GRCm39) |
L1034* |
probably null |
Het |
| Slc39a4 |
C |
T |
15: 76,498,283 (GRCm39) |
D385N |
probably damaging |
Het |
| Spaca1 |
A |
T |
4: 34,039,247 (GRCm39) |
N95K |
possibly damaging |
Het |
| Spag17 |
C |
T |
3: 99,992,657 (GRCm39) |
Q1718* |
probably null |
Het |
| Spdl1 |
C |
T |
11: 34,714,267 (GRCm39) |
A141T |
probably benign |
Het |
| Stxbp3-ps |
A |
T |
19: 9,535,714 (GRCm39) |
|
noncoding transcript |
Het |
| Supv3l1 |
G |
T |
10: 62,266,394 (GRCm39) |
A594D |
probably damaging |
Het |
| Tcaf3 |
A |
G |
6: 42,573,867 (GRCm39) |
V115A |
probably benign |
Het |
| Tmem131 |
T |
C |
1: 36,866,255 (GRCm39) |
N483S |
possibly damaging |
Het |
| Tonsl |
A |
T |
15: 76,522,301 (GRCm39) |
C231S |
probably damaging |
Het |
| Trav9n-4 |
T |
C |
14: 53,532,305 (GRCm39) |
F53S |
possibly damaging |
Het |
| Trgv7 |
G |
T |
13: 19,362,558 (GRCm39) |
L82F |
probably damaging |
Het |
| Trim45 |
T |
G |
3: 100,835,388 (GRCm39) |
V457G |
probably damaging |
Het |
| Trpm1 |
T |
A |
7: 63,885,579 (GRCm39) |
I865N |
probably damaging |
Het |
| Trpm3 |
C |
A |
19: 22,676,130 (GRCm39) |
L99I |
probably benign |
Het |
| Twist1 |
T |
A |
12: 34,008,440 (GRCm39) |
L155Q |
probably damaging |
Het |
| Vac14 |
A |
G |
8: 111,437,018 (GRCm39) |
E577G |
possibly damaging |
Het |
| Vmn1r184 |
T |
C |
7: 25,966,881 (GRCm39) |
V209A |
probably benign |
Het |
| Xdh |
C |
T |
17: 74,198,288 (GRCm39) |
G1200R |
probably damaging |
Het |
| Zbbx |
C |
T |
3: 74,990,990 (GRCm39) |
D290N |
possibly damaging |
Het |
| Zbtb40 |
T |
C |
4: 136,725,263 (GRCm39) |
T585A |
probably benign |
Het |
| Zc3h4 |
T |
A |
7: 16,156,155 (GRCm39) |
D262E |
unknown |
Het |
| Zfp777 |
G |
T |
6: 48,014,601 (GRCm39) |
D368E |
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 |
|
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'- ACTAAAGAAGTGTATTAGGCTCGGG -3'
(R):5'- CAGCATCCCAGGGTTCTAAG -3'
Sequencing Primer
(F):5'- TGTATTAGGCTCGGGACTCAAAAG -3'
(R):5'- AGCATCCCAGGGTTCTAAGCTATG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation