Incidental Mutation 'R9593:Cemip2'
| ID |
723130 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cemip2
|
| Ensembl Gene |
ENSMUSG00000024754 |
| Gene Name |
cell migration inducing hyaluronidase 2 |
| Synonyms |
3110012M15Rik, Tmem2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.820)
|
| Stock # |
R9593 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
21755706-21835724 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21803453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 829
(S829P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025663]
[ENSMUST00000096194]
|
| AlphaFold |
Q5FWI3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025663
AA Change: S829P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025663
Gene: ENSMUSG00000024754
AA Change: S829P
| 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 damaging
Transcript: ENSMUST00000096194
AA Change: S829P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093908
Gene: ENSMUSG00000024754
AA Change: S829P
| 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: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
T |
A |
1: 192,857,087 (GRCm39) |
D146E |
probably benign |
Het |
| Acaca |
C |
T |
11: 84,271,339 (GRCm39) |
Q2058* |
probably null |
Het |
| Adam39 |
T |
A |
8: 41,279,744 (GRCm39) |
C712S |
possibly damaging |
Het |
| Aipl1 |
T |
C |
11: 71,921,161 (GRCm39) |
E219G |
probably benign |
Het |
| Ankrd24 |
A |
G |
10: 81,475,898 (GRCm39) |
R301G |
unknown |
Het |
| Arhgef17 |
A |
G |
7: 100,532,009 (GRCm39) |
F272L |
probably damaging |
Het |
| B3galt2 |
T |
A |
1: 143,522,604 (GRCm39) |
Y247N |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,002,090 (GRCm39) |
V1345A |
probably damaging |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Cat |
T |
C |
2: 103,285,433 (GRCm39) |
E503G |
probably benign |
Het |
| Coro1b |
T |
A |
19: 4,199,497 (GRCm39) |
V52E |
probably damaging |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Dip2c |
T |
A |
13: 9,704,683 (GRCm39) |
M1344K |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,236,774 (GRCm39) |
I367V |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,178,607 (GRCm39) |
T1807A |
probably benign |
Het |
| Dusp10 |
T |
A |
1: 183,806,643 (GRCm39) |
F459I |
probably damaging |
Het |
| Elac1 |
A |
T |
18: 73,872,089 (GRCm39) |
L302Q |
probably benign |
Het |
| Entrep3 |
T |
A |
3: 89,091,199 (GRCm39) |
S57T |
probably benign |
Het |
| Fdx2 |
A |
T |
9: 20,979,097 (GRCm39) |
Y165N |
probably damaging |
Het |
| Gabra2 |
C |
T |
5: 71,165,353 (GRCm39) |
V206I |
possibly damaging |
Het |
| Gabrg1 |
T |
C |
5: 70,939,808 (GRCm39) |
E108G |
probably damaging |
Het |
| Gm29394 |
A |
G |
15: 57,932,722 (GRCm39) |
L5P |
probably benign |
Het |
| Gnb1l |
C |
T |
16: 18,362,914 (GRCm39) |
P101S |
probably benign |
Het |
| Hectd4 |
C |
A |
5: 121,424,844 (GRCm39) |
S749* |
probably null |
Het |
| Hmcn2 |
A |
G |
2: 31,244,742 (GRCm39) |
Y733C |
probably damaging |
Het |
| Inafm1 |
G |
A |
7: 16,007,059 (GRCm39) |
L53F |
probably damaging |
Het |
| Iqgap3 |
G |
A |
3: 88,011,657 (GRCm39) |
R814H |
probably damaging |
Het |
| Map3k19 |
A |
G |
1: 127,778,163 (GRCm39) |
C21R |
probably benign |
Het |
| Maz |
A |
G |
7: 126,624,924 (GRCm39) |
F199L |
probably damaging |
Het |
| Mis18bp1 |
A |
G |
12: 65,187,628 (GRCm39) |
I825T |
probably damaging |
Het |
| Mpp3 |
T |
A |
11: 101,907,506 (GRCm39) |
T211S |
possibly damaging |
Het |
| Mtrf1 |
T |
C |
14: 79,656,664 (GRCm39) |
Y389H |
probably damaging |
Het |
| Myo3b |
G |
A |
2: 70,075,648 (GRCm39) |
G579R |
probably benign |
Het |
| Nlrp4e |
T |
C |
7: 23,020,197 (GRCm39) |
V228A |
probably benign |
Het |
| Npepps |
T |
A |
11: 97,149,179 (GRCm39) |
|
probably null |
Het |
| Ntng1 |
A |
G |
3: 109,842,224 (GRCm39) |
L183P |
probably damaging |
Het |
| Or8c16 |
A |
G |
9: 38,130,868 (GRCm39) |
T247A |
probably benign |
Het |
| Pcdha4 |
A |
C |
18: 37,086,740 (GRCm39) |
I308L |
probably benign |
Het |
| Pear1 |
G |
T |
3: 87,658,480 (GRCm39) |
Q964K |
probably benign |
Het |
| Plekhg2 |
A |
T |
7: 28,059,710 (GRCm39) |
D1182E |
possibly damaging |
Het |
| Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
| Ptpn13 |
T |
A |
5: 103,674,998 (GRCm39) |
D658E |
possibly damaging |
Het |
| Ptprq |
T |
C |
10: 107,524,254 (GRCm39) |
Y493C |
possibly damaging |
Het |
| Rnd1 |
A |
G |
15: 98,570,526 (GRCm39) |
W107R |
probably damaging |
Het |
| Scn5a |
G |
A |
9: 119,315,839 (GRCm39) |
T1623M |
probably damaging |
Het |
| Sec23b |
T |
C |
2: 144,410,564 (GRCm39) |
I288T |
probably benign |
Het |
| Slfn14 |
T |
A |
11: 83,174,733 (GRCm39) |
H86L |
probably benign |
Het |
| Smchd1 |
G |
A |
17: 71,701,828 (GRCm39) |
H1055Y |
probably damaging |
Het |
| Sox13 |
G |
A |
1: 133,316,214 (GRCm39) |
P243S |
probably damaging |
Het |
| St3gal6 |
C |
A |
16: 58,305,136 (GRCm39) |
E109* |
probably null |
Het |
| Traf4 |
T |
C |
11: 78,056,253 (GRCm39) |
D5G |
possibly damaging |
Het |
| Trank1 |
G |
T |
9: 111,191,365 (GRCm39) |
C458F |
probably benign |
Het |
| Ttc41 |
T |
C |
10: 86,549,049 (GRCm39) |
F81S |
probably benign |
Het |
| Tulp1 |
C |
T |
17: 28,572,802 (GRCm39) |
W451* |
probably null |
Het |
| Tyms |
T |
C |
5: 30,269,110 (GRCm39) |
I171V |
|
Het |
| Vmn2r115 |
T |
A |
17: 23,578,184 (GRCm39) |
N552K |
probably damaging |
Het |
| Zfp710 |
T |
A |
7: 79,730,909 (GRCm39) |
S29T |
possibly 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 |
|
|
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 |
|
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'- ATCGTTGCTTGAGGCTAATCAG -3'
(R):5'- GCAATGCATCCAGGCTCATTAC -3'
Sequencing Primer
(F):5'- CATAGCATAAAAGCAATTTCTGAGGG -3'
(R):5'- GGCTCATTACAGAAAAGACTGTCTCG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation