Incidental Mutation 'R6223:Mmel1'
ID |
504134 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mmel1
|
Ensembl Gene |
ENSMUSG00000058183 |
Gene Name |
membrane metallo-endopeptidase-like 1 |
Synonyms |
NEPLP alpha, NEPLP beta, Mell1, SEP, Nep2, Nl1, NEPLP gamma |
MMRRC Submission |
044354-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.151)
|
Stock # |
R6223 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
154954042-154979985 bp(+) (GRCm39) |
Type of Mutation |
splice site (4577 bp from exon) |
DNA Base Change (assembly) |
A to G
at 154956159 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146409
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050220]
[ENSMUST00000079269]
[ENSMUST00000080559]
[ENSMUST00000105634]
[ENSMUST00000105635]
[ENSMUST00000163732]
[ENSMUST00000207854]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000050220
|
SMART Domains |
Protein: ENSMUSP00000051782 Gene: ENSMUSG00000046637
Domain | Start | End | E-Value | Type |
Blast:TPR
|
38 |
68 |
4e-6 |
BLAST |
low complexity region
|
69 |
85 |
N/A |
INTRINSIC |
TPR
|
166 |
199 |
2.66e0 |
SMART |
TPR
|
200 |
233 |
4.45e-2 |
SMART |
TPR
|
294 |
327 |
9e1 |
SMART |
Blast:TPR
|
328 |
361 |
2e-7 |
BLAST |
TPR
|
412 |
445 |
8.77e1 |
SMART |
TPR
|
452 |
485 |
1.78e-1 |
SMART |
Blast:TPR
|
500 |
533 |
9e-8 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079269
AA Change: E17G
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000078252 Gene: ENSMUSG00000058183 AA Change: E17G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
Pfam:Peptidase_M13_N
|
99 |
498 |
1.7e-135 |
PFAM |
Pfam:Peptidase_M13
|
559 |
767 |
1.2e-68 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000080559
AA Change: E17G
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000079399 Gene: ENSMUSG00000058183 AA Change: E17G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
Pfam:Peptidase_M13_N
|
76 |
512 |
4.8e-131 |
PFAM |
Pfam:Peptidase_M13
|
573 |
779 |
3.4e-71 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105634
AA Change: E17G
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000101259 Gene: ENSMUSG00000058183 AA Change: E17G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
Pfam:Peptidase_M13_N
|
76 |
512 |
1.4e-105 |
PFAM |
Pfam:Peptidase_M13
|
573 |
781 |
4e-74 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105635
AA Change: E17G
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000101260 Gene: ENSMUSG00000058183 AA Change: E17G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
Pfam:Peptidase_M13_N
|
76 |
475 |
1.6e-135 |
PFAM |
Pfam:Peptidase_M13
|
536 |
744 |
1.2e-68 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138795
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163732
AA Change: E17G
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000131753 Gene: ENSMUSG00000058183 AA Change: E17G
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
Pfam:Peptidase_M13_N
|
99 |
498 |
1.7e-135 |
PFAM |
Pfam:Peptidase_M13
|
559 |
765 |
3.3e-71 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000207854
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151696
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the neutral endopeptidase (NEP) or membrane metallo-endopeptidase (MME) family. Family members play important roles in pain perception, arterial pressure regulation, phosphate metabolism and homeostasis. This protein is a type II transmembrane protein and is thought to be expressed as a secreted protein. This gene is expressed mainly in testis with weak expression in the brain, kidney, and heart. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mice display impaired male fertility. Female fertility is not affected. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
A |
C |
2: 152,269,873 (GRCm39) |
R8S |
probably benign |
Het |
Abca8b |
A |
G |
11: 109,868,672 (GRCm39) |
V164A |
probably benign |
Het |
Acadm |
C |
A |
3: 153,644,186 (GRCm39) |
|
probably null |
Het |
Ap3b2 |
G |
A |
7: 81,123,210 (GRCm39) |
R435* |
probably null |
Het |
Art2b |
A |
G |
7: 101,229,158 (GRCm39) |
F247S |
possibly damaging |
Het |
C1rb |
T |
A |
6: 124,551,539 (GRCm39) |
D216E |
probably benign |
Het |
Casz1 |
C |
A |
4: 149,017,840 (GRCm39) |
D90E |
probably damaging |
Het |
Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
Cdc25a |
C |
A |
9: 109,718,842 (GRCm39) |
P409T |
possibly damaging |
Het |
Cidea |
A |
C |
18: 67,491,809 (GRCm39) |
K23T |
possibly damaging |
Het |
Clspn |
T |
A |
4: 126,479,961 (GRCm39) |
D1101E |
probably damaging |
Het |
Col10a1 |
A |
T |
10: 34,271,183 (GRCm39) |
D385V |
probably damaging |
Het |
Crat |
C |
T |
2: 30,297,042 (GRCm39) |
V304I |
probably benign |
Het |
Cyp2d26 |
A |
T |
15: 82,675,918 (GRCm39) |
W265R |
probably benign |
Het |
Dock8 |
A |
T |
19: 25,138,416 (GRCm39) |
Y1247F |
probably benign |
Het |
Dync2i1 |
T |
C |
12: 116,221,078 (GRCm39) |
D11G |
possibly damaging |
Het |
Eed |
A |
G |
7: 89,605,495 (GRCm39) |
Y365H |
probably damaging |
Het |
Fabp5 |
T |
A |
3: 10,080,170 (GRCm39) |
F73L |
probably benign |
Het |
Fbn1 |
C |
T |
2: 125,254,591 (GRCm39) |
C224Y |
possibly damaging |
Het |
Ggcx |
T |
C |
6: 72,406,588 (GRCm39) |
F684L |
probably damaging |
Het |
Glrp1 |
G |
A |
1: 88,431,164 (GRCm39) |
Q69* |
probably null |
Het |
Gm29797 |
T |
C |
2: 181,300,850 (GRCm39) |
V115A |
possibly damaging |
Het |
Gtf3c1 |
C |
T |
7: 125,275,797 (GRCm39) |
R543K |
probably benign |
Het |
Ifih1 |
T |
C |
2: 62,428,603 (GRCm39) |
I891V |
probably benign |
Het |
Ifnar2 |
C |
T |
16: 91,184,876 (GRCm39) |
T89M |
probably damaging |
Het |
Kat6a |
C |
A |
8: 23,430,442 (GRCm39) |
N1932K |
unknown |
Het |
Mgat5 |
A |
T |
1: 127,310,716 (GRCm39) |
D210V |
possibly damaging |
Het |
Myh3 |
G |
T |
11: 66,988,843 (GRCm39) |
V1499L |
probably benign |
Het |
Ncan |
A |
C |
8: 70,562,604 (GRCm39) |
D551E |
probably benign |
Het |
Nol11 |
G |
T |
11: 107,062,442 (GRCm39) |
T598K |
possibly damaging |
Het |
Olfml3 |
G |
A |
3: 103,643,776 (GRCm39) |
R202W |
probably damaging |
Het |
Or2w4 |
G |
A |
13: 21,795,536 (GRCm39) |
T201I |
probably benign |
Het |
Or4e2 |
A |
G |
14: 52,688,136 (GRCm39) |
R89G |
probably benign |
Het |
Pcdh9 |
T |
C |
14: 93,253,169 (GRCm39) |
K1131E |
probably benign |
Het |
Pcolce |
A |
G |
5: 137,603,561 (GRCm39) |
M424T |
probably damaging |
Het |
Pi16 |
C |
A |
17: 29,546,413 (GRCm39) |
S397* |
probably null |
Het |
Pi4ka |
A |
T |
16: 17,175,435 (GRCm39) |
Y464* |
probably null |
Het |
Pik3c2b |
T |
A |
1: 132,998,095 (GRCm39) |
L324M |
probably damaging |
Het |
Prdm2 |
T |
C |
4: 142,868,777 (GRCm39) |
N179S |
probably benign |
Het |
Prss56 |
C |
T |
1: 87,113,134 (GRCm39) |
P183S |
probably benign |
Het |
Prx |
T |
G |
7: 27,216,261 (GRCm39) |
M393R |
probably damaging |
Het |
Qpctl |
T |
C |
7: 18,877,134 (GRCm39) |
D328G |
probably damaging |
Het |
Qser1 |
A |
G |
2: 104,617,993 (GRCm39) |
S940P |
probably benign |
Het |
Rchy1 |
G |
A |
5: 92,105,826 (GRCm39) |
R41W |
probably damaging |
Het |
Scp2d1 |
T |
C |
2: 144,665,868 (GRCm39) |
I69T |
possibly damaging |
Het |
Sirpb1a |
A |
G |
3: 15,444,086 (GRCm39) |
V388A |
probably benign |
Het |
Ssu2 |
G |
T |
6: 112,353,409 (GRCm39) |
C238* |
probably null |
Het |
Stub1 |
C |
T |
17: 26,051,787 (GRCm39) |
G14D |
probably damaging |
Het |
Tab1 |
T |
A |
15: 80,032,464 (GRCm39) |
C24S |
probably damaging |
Het |
Tdrd1 |
T |
C |
19: 56,854,282 (GRCm39) |
V1076A |
probably damaging |
Het |
Tex10 |
T |
C |
4: 48,468,525 (GRCm39) |
R134G |
probably damaging |
Het |
Tg |
T |
A |
15: 66,579,771 (GRCm39) |
N1525K |
probably benign |
Het |
Tll2 |
G |
A |
19: 41,124,391 (GRCm39) |
T208I |
possibly damaging |
Het |
Tmem232 |
T |
C |
17: 65,807,191 (GRCm39) |
M1V |
probably null |
Het |
Ttc7b |
A |
G |
12: 100,353,368 (GRCm39) |
|
probably null |
Het |
Ubb |
A |
G |
11: 62,443,351 (GRCm39) |
E127G |
possibly damaging |
Het |
Ulk2 |
A |
T |
11: 61,678,330 (GRCm39) |
Y796* |
probably null |
Het |
Vdac2 |
G |
A |
14: 21,895,246 (GRCm39) |
G265R |
possibly damaging |
Het |
Vmn2r45 |
A |
T |
7: 8,486,301 (GRCm39) |
V329E |
probably benign |
Het |
Zbtb47 |
G |
A |
9: 121,592,853 (GRCm39) |
R391Q |
possibly damaging |
Het |
|
Other mutations in Mmel1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00971:Mmel1
|
APN |
4 |
154,972,289 (GRCm39) |
splice site |
probably benign |
|
IGL01560:Mmel1
|
APN |
4 |
154,976,967 (GRCm39) |
missense |
probably null |
1.00 |
IGL01734:Mmel1
|
APN |
4 |
154,976,408 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02933:Mmel1
|
APN |
4 |
154,968,087 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03178:Mmel1
|
APN |
4 |
154,975,311 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1161:Mmel1
|
UTSW |
4 |
154,979,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R1522:Mmel1
|
UTSW |
4 |
154,979,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R1566:Mmel1
|
UTSW |
4 |
154,968,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R1885:Mmel1
|
UTSW |
4 |
154,975,333 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2177:Mmel1
|
UTSW |
4 |
154,978,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R3413:Mmel1
|
UTSW |
4 |
154,974,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R3432:Mmel1
|
UTSW |
4 |
154,969,955 (GRCm39) |
splice site |
probably benign |
|
R3870:Mmel1
|
UTSW |
4 |
154,968,095 (GRCm39) |
missense |
probably benign |
0.01 |
R4197:Mmel1
|
UTSW |
4 |
154,977,761 (GRCm39) |
missense |
probably damaging |
1.00 |
R4822:Mmel1
|
UTSW |
4 |
154,972,354 (GRCm39) |
missense |
probably benign |
0.00 |
R4998:Mmel1
|
UTSW |
4 |
154,969,967 (GRCm39) |
missense |
probably benign |
0.00 |
R5135:Mmel1
|
UTSW |
4 |
154,966,781 (GRCm39) |
missense |
probably benign |
0.20 |
R5225:Mmel1
|
UTSW |
4 |
154,976,456 (GRCm39) |
missense |
probably damaging |
0.96 |
R5821:Mmel1
|
UTSW |
4 |
154,970,044 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6131:Mmel1
|
UTSW |
4 |
154,979,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R6132:Mmel1
|
UTSW |
4 |
154,979,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R6133:Mmel1
|
UTSW |
4 |
154,979,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R6194:Mmel1
|
UTSW |
4 |
154,967,673 (GRCm39) |
nonsense |
probably null |
|
R6786:Mmel1
|
UTSW |
4 |
154,976,885 (GRCm39) |
nonsense |
probably null |
|
R6921:Mmel1
|
UTSW |
4 |
154,966,134 (GRCm39) |
missense |
probably damaging |
0.97 |
R7272:Mmel1
|
UTSW |
4 |
154,978,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R7373:Mmel1
|
UTSW |
4 |
154,973,665 (GRCm39) |
missense |
not run |
|
R7685:Mmel1
|
UTSW |
4 |
154,956,111 (GRCm39) |
start codon destroyed |
probably null |
0.28 |
R7996:Mmel1
|
UTSW |
4 |
154,976,912 (GRCm39) |
missense |
probably benign |
0.03 |
R8683:Mmel1
|
UTSW |
4 |
154,973,985 (GRCm39) |
missense |
probably benign |
0.13 |
R8856:Mmel1
|
UTSW |
4 |
154,969,478 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8924:Mmel1
|
UTSW |
4 |
154,974,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R9364:Mmel1
|
UTSW |
4 |
154,976,967 (GRCm39) |
missense |
probably null |
1.00 |
R9594:Mmel1
|
UTSW |
4 |
154,978,592 (GRCm39) |
missense |
probably benign |
0.15 |
R9683:Mmel1
|
UTSW |
4 |
154,977,285 (GRCm39) |
missense |
probably damaging |
1.00 |
X0025:Mmel1
|
UTSW |
4 |
154,979,142 (GRCm39) |
missense |
probably benign |
0.06 |
Z1176:Mmel1
|
UTSW |
4 |
154,979,665 (GRCm39) |
nonsense |
probably null |
|
Z1177:Mmel1
|
UTSW |
4 |
154,978,531 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGTGTGTCCTAGGCATCCGATC -3'
(R):5'- GACAGAGCTTTCTGGATGGG -3'
Sequencing Primer
(F):5'- ATCCGGGCTCCAGCTGC -3'
(R):5'- ACCTCTGGAGTCAGCAGTGTG -3'
|
Posted On |
2018-02-28 |