Incidental Mutation 'R7837:Cemip2'
| ID |
606077 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cemip2
|
| Ensembl Gene |
ENSMUSG00000024754 |
| Gene Name |
cell migration inducing hyaluronidase 2 |
| Synonyms |
3110012M15Rik, Tmem2 |
| MMRRC Submission |
045891-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.773)
|
| Stock # |
R7837 (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 A
at 21775385 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 209
(D209E)
|
| 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: D209E
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000025663
Gene: ENSMUSG00000024754
AA Change: D209E
| 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: D209E
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000093908
Gene: ENSMUSG00000024754
AA Change: D209E
| 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: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
T |
C |
4: 144,344,547 (GRCm39) |
S108P |
probably damaging |
Het |
| Acox3 |
A |
G |
5: 35,768,830 (GRCm39) |
|
probably null |
Het |
| Adam22 |
T |
A |
5: 8,199,284 (GRCm39) |
|
probably null |
Het |
| Adgrb3 |
T |
C |
1: 25,167,915 (GRCm39) |
Y1007C |
probably damaging |
Het |
| Anapc4 |
T |
A |
5: 53,016,550 (GRCm39) |
|
probably null |
Het |
| Aoc1 |
T |
A |
6: 48,882,584 (GRCm39) |
Y153* |
probably null |
Het |
| Armc1 |
A |
T |
3: 19,198,633 (GRCm39) |
I109N |
probably benign |
Het |
| Bcl2 |
A |
C |
1: 106,471,086 (GRCm39) |
F207V |
possibly damaging |
Het |
| Btd |
C |
A |
14: 31,388,784 (GRCm39) |
S168R |
possibly damaging |
Het |
| Cage1 |
A |
T |
13: 38,206,381 (GRCm39) |
M488K |
not run |
Het |
| Cenpj |
T |
C |
14: 56,796,185 (GRCm39) |
N224S |
probably benign |
Het |
| Cln6 |
T |
C |
9: 62,756,330 (GRCm39) |
V81A |
|
Het |
| Crispld1 |
T |
A |
1: 17,798,954 (GRCm39) |
V25E |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,518,176 (GRCm39) |
T1808A |
probably benign |
Het |
| Dnm3 |
C |
T |
1: 161,819,619 (GRCm39) |
R851H |
possibly damaging |
Het |
| Dtx3l |
T |
A |
16: 35,751,896 (GRCm39) |
N675I |
probably damaging |
Het |
| Dusp28 |
A |
G |
1: 92,835,405 (GRCm39) |
E163G |
probably benign |
Het |
| Ecd |
A |
T |
14: 20,383,400 (GRCm39) |
F346L |
probably damaging |
Het |
| F5 |
G |
A |
1: 164,014,363 (GRCm39) |
V545M |
probably damaging |
Het |
| Gm19410 |
A |
T |
8: 36,276,134 (GRCm39) |
Y1597F |
possibly damaging |
Het |
| Gm4559 |
C |
T |
7: 141,827,553 (GRCm39) |
R183K |
unknown |
Het |
| Gria2 |
A |
T |
3: 80,618,095 (GRCm39) |
N313K |
probably benign |
Het |
| Igkv13-84 |
C |
T |
6: 68,916,793 (GRCm39) |
S30F |
possibly damaging |
Het |
| Kcnh6 |
C |
A |
11: 105,924,636 (GRCm39) |
H867N |
probably benign |
Het |
| Krt82 |
T |
C |
15: 101,456,792 (GRCm39) |
Q196R |
possibly damaging |
Het |
| Mbd4 |
T |
C |
6: 115,826,500 (GRCm39) |
N164D |
probably benign |
Het |
| Mrgpra1 |
A |
T |
7: 46,985,076 (GRCm39) |
M201K |
possibly damaging |
Het |
| Msh6 |
G |
A |
17: 88,292,094 (GRCm39) |
G283E |
probably damaging |
Het |
| Msr1 |
C |
T |
8: 40,034,873 (GRCm39) |
C426Y |
probably damaging |
Het |
| Muc5ac |
A |
G |
7: 141,369,700 (GRCm39) |
H3149R |
possibly damaging |
Het |
| Nr1i2 |
T |
C |
16: 38,074,146 (GRCm39) |
M156V |
probably benign |
Het |
| Ogdhl |
T |
C |
14: 32,068,415 (GRCm39) |
V884A |
possibly damaging |
Het |
| Or13a21 |
T |
C |
7: 139,999,234 (GRCm39) |
I151V |
probably benign |
Het |
| Or4c102 |
A |
T |
2: 88,422,723 (GRCm39) |
I192F |
possibly damaging |
Het |
| Or4k15b |
T |
A |
14: 50,272,033 (GRCm39) |
T276S |
probably damaging |
Het |
| Or51ag1 |
A |
T |
7: 103,156,052 (GRCm39) |
C34S |
possibly damaging |
Het |
| Pakap |
A |
G |
4: 57,855,262 (GRCm39) |
D197G |
probably damaging |
Het |
| Pcnx4 |
C |
A |
12: 72,602,892 (GRCm39) |
L385M |
probably damaging |
Het |
| Pgap4 |
A |
T |
4: 49,586,262 (GRCm39) |
M302K |
probably damaging |
Het |
| Plscr4 |
T |
A |
9: 92,366,976 (GRCm39) |
C197S |
probably damaging |
Het |
| Rin3 |
A |
G |
12: 102,335,024 (GRCm39) |
T312A |
unknown |
Het |
| Septin7 |
T |
A |
9: 25,199,531 (GRCm39) |
N143K |
possibly damaging |
Het |
| Sgk2 |
A |
G |
2: 162,845,216 (GRCm39) |
K208E |
probably damaging |
Het |
| Slc4a5 |
A |
T |
6: 83,238,539 (GRCm39) |
T236S |
probably benign |
Het |
| Sptbn1 |
A |
G |
11: 30,088,832 (GRCm39) |
L810P |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,534,146 (GRCm39) |
S3468G |
probably benign |
Het |
| Tarbp1 |
T |
C |
8: 127,201,300 (GRCm39) |
S169G |
probably benign |
Het |
| Tex56 |
A |
T |
13: 35,128,359 (GRCm39) |
Q192L |
possibly damaging |
Het |
| Tssk2 |
T |
C |
16: 17,716,615 (GRCm39) |
V6A |
possibly damaging |
Het |
| Ttll4 |
A |
T |
1: 74,720,916 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
C |
T |
4: 139,120,462 (GRCm39) |
R296* |
probably null |
Het |
| Wscd2 |
G |
T |
5: 113,710,394 (GRCm39) |
C306F |
probably damaging |
Het |
| Zbtb43 |
C |
T |
2: 33,343,981 (GRCm39) |
G378R |
probably damaging |
Het |
| Zdhhc12 |
A |
T |
2: 29,981,709 (GRCm39) |
V165E |
probably damaging |
Het |
| Zfp59 |
GAAA |
GAAAAA |
7: 27,554,342 (GRCm39) |
|
probably null |
Het |
| Zfp943 |
A |
T |
17: 22,211,346 (GRCm39) |
Y144F |
probably benign |
Het |
| Zkscan8 |
T |
A |
13: 21,704,598 (GRCm39) |
N447I |
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 |
|
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'- TGCTGTTCCCCATGTAGAGTATC -3'
(R):5'- TTAAGGCCCCGGGAAAAGTC -3'
Sequencing Primer
(F):5'- CCCCATGTAGAGTATCTGTAGTATGC -3'
(R):5'- CCCGGGAAAAGTCCTTCTC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation