Incidental Mutation 'R6131:Mmel1'
ID |
487123 |
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 |
044278-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.151)
|
Stock # |
R6131 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
154954042-154979985 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 154979475 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 728
(H728Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131753
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030935]
[ENSMUST00000079269]
[ENSMUST00000080559]
[ENSMUST00000105634]
[ENSMUST00000105635]
[ENSMUST00000163732]
[ENSMUST00000132281]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030935
|
SMART Domains |
Protein: ENSMUSP00000030935 Gene: ENSMUSG00000029059
Domain | Start | End | E-Value | Type |
Pfam:AhpC-TSA_2
|
53 |
166 |
9.9e-25 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079269
AA Change: H728Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000078252 Gene: ENSMUSG00000058183 AA Change: H728Y
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 damaging
Transcript: ENSMUST00000080559
AA Change: H742Y
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000079399 Gene: ENSMUSG00000058183 AA Change: H742Y
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 damaging
Transcript: ENSMUST00000105634
AA Change: H742Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101259 Gene: ENSMUSG00000058183 AA Change: H742Y
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 damaging
Transcript: ENSMUST00000105635
AA Change: H705Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101260 Gene: ENSMUSG00000058183 AA Change: H705Y
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: ENSMUST00000123513
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163732
AA Change: H728Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131753 Gene: ENSMUSG00000058183 AA Change: H728Y
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 |
noncoding transcript
Transcript: ENSMUST00000129623
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132281
|
SMART Domains |
Protein: ENSMUSP00000116611 Gene: ENSMUSG00000029059
Domain | Start | End | E-Value | Type |
Pfam:AhpC-TSA_2
|
9 |
114 |
4.2e-25 |
PFAM |
|
Meta Mutation Damage Score |
0.7652 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
Validation Efficiency |
96% (50/52) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5031439G07Rik |
A |
T |
15: 84,844,793 (GRCm39) |
W75R |
probably damaging |
Het |
Aadacl2fm3 |
A |
G |
3: 59,776,324 (GRCm39) |
K165R |
possibly damaging |
Het |
Abca15 |
T |
C |
7: 119,939,428 (GRCm39) |
V274A |
probably benign |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Ap1m2 |
T |
C |
9: 21,207,797 (GRCm39) |
Y396C |
probably damaging |
Het |
Apob |
T |
C |
12: 8,065,874 (GRCm39) |
S405P |
probably benign |
Het |
Arhgap26 |
G |
T |
18: 39,419,638 (GRCm39) |
G533* |
probably null |
Het |
Atxn2l |
T |
C |
7: 126,102,337 (GRCm39) |
|
probably benign |
Het |
Ccdc88c |
A |
T |
12: 100,907,387 (GRCm39) |
L995H |
probably damaging |
Het |
Ccn3 |
A |
G |
15: 54,612,756 (GRCm39) |
D255G |
probably benign |
Het |
Cep192 |
A |
G |
18: 67,971,068 (GRCm39) |
H1023R |
possibly damaging |
Het |
Cog5 |
T |
A |
12: 31,936,220 (GRCm39) |
M589K |
possibly damaging |
Het |
Col25a1 |
C |
A |
3: 130,329,114 (GRCm39) |
P337Q |
probably damaging |
Het |
Cyfip1 |
T |
G |
7: 55,523,228 (GRCm39) |
V51G |
possibly damaging |
Het |
Dnah7b |
A |
T |
1: 46,292,626 (GRCm39) |
I3004F |
probably damaging |
Het |
Dsg3 |
A |
T |
18: 20,671,569 (GRCm39) |
D758V |
probably damaging |
Het |
Dsg3 |
A |
G |
18: 20,653,534 (GRCm39) |
|
probably null |
Het |
Eml5 |
A |
T |
12: 98,827,510 (GRCm39) |
H573Q |
probably damaging |
Het |
Erp27 |
T |
C |
6: 136,885,201 (GRCm39) |
D199G |
probably damaging |
Het |
Flnb |
A |
G |
14: 7,894,635 (GRCm38) |
Y811C |
possibly damaging |
Het |
G6pd2 |
A |
T |
5: 61,966,593 (GRCm39) |
S123C |
probably benign |
Het |
Gm1818 |
T |
A |
12: 48,602,319 (GRCm39) |
|
noncoding transcript |
Het |
Gm29340 |
C |
T |
2: 116,798,519 (GRCm39) |
|
noncoding transcript |
Het |
H2bc7 |
C |
A |
13: 23,758,310 (GRCm39) |
|
probably benign |
Het |
Hcn2 |
G |
T |
10: 79,569,742 (GRCm39) |
G581W |
probably damaging |
Het |
Kidins220 |
T |
C |
12: 25,042,313 (GRCm39) |
|
probably null |
Het |
Lonp1 |
T |
C |
17: 56,921,457 (GRCm39) |
E926G |
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,396,026 (GRCm39) |
I2415V |
probably benign |
Het |
Mmp10 |
A |
G |
9: 7,503,633 (GRCm39) |
|
probably null |
Het |
Myo16 |
T |
A |
8: 10,619,877 (GRCm39) |
I1476N |
probably benign |
Het |
Nectin3 |
G |
T |
16: 46,215,515 (GRCm39) |
H76N |
probably damaging |
Het |
Nphs2 |
G |
A |
1: 156,153,521 (GRCm39) |
R204Q |
probably damaging |
Het |
Or5ac15 |
T |
C |
16: 58,940,256 (GRCm39) |
Y59C |
probably damaging |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Or8b53 |
T |
A |
9: 38,667,362 (GRCm39) |
I126N |
probably damaging |
Het |
Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
Pate10 |
T |
A |
9: 35,652,840 (GRCm39) |
C27* |
probably null |
Het |
Psme2b |
T |
C |
11: 48,836,752 (GRCm39) |
D65G |
probably damaging |
Het |
Rlf |
T |
C |
4: 121,012,172 (GRCm39) |
K214E |
probably damaging |
Het |
Rnasel |
A |
T |
1: 153,630,206 (GRCm39) |
T241S |
probably damaging |
Het |
Samd9l |
C |
G |
6: 3,377,252 (GRCm39) |
G3A |
probably benign |
Het |
Smg7 |
A |
G |
1: 152,720,962 (GRCm39) |
|
probably null |
Het |
Spag16 |
A |
G |
1: 70,764,242 (GRCm39) |
|
probably null |
Het |
Spata31d1c |
T |
A |
13: 65,183,485 (GRCm39) |
D342E |
probably benign |
Het |
Stab2 |
A |
G |
10: 86,719,642 (GRCm39) |
|
probably null |
Het |
Taar7b |
A |
T |
10: 23,876,615 (GRCm39) |
Y260F |
probably benign |
Het |
Vcpip1 |
T |
C |
1: 9,817,517 (GRCm39) |
I289V |
probably damaging |
Het |
Vmn2r130 |
C |
T |
17: 23,282,629 (GRCm39) |
A103V |
probably benign |
Het |
Vmn2r39 |
A |
G |
7: 9,017,963 (GRCm39) |
V791A |
probably damaging |
Het |
Vmn2r66 |
T |
A |
7: 84,644,224 (GRCm39) |
I729F |
probably damaging |
Het |
Zfp536 |
T |
A |
7: 37,269,137 (GRCm39) |
D93V |
probably 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 |
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 |
|
R6223:Mmel1
|
UTSW |
4 |
154,956,159 (GRCm39) |
splice site |
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'- GACCTGTTGGCCTCCATATC -3'
(R):5'- ATAGCTCAGCCTTGGCTACCAG -3'
Sequencing Primer
(F):5'- CCTCATCTTACAAACAGCTGTTTAGG -3'
(R):5'- TTGGCTACCAGATGCGACATC -3'
|
Posted On |
2017-10-10 |