Incidental Mutation 'IGL00515:Rln1'
| ID |
13831 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rln1
|
| Ensembl Gene |
ENSMUSG00000039097 |
| Gene Name |
relaxin 1 |
| Synonyms |
rlx |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00515
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
29309155-29312070 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 29309414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 122
(V122I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044143]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044143
AA Change: V122I
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000043376
Gene: ENSMUSG00000039097
AA Change: V122I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
IlGF
|
33 |
185 |
6.34e-13 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182039
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Relaxins are known endocrine and autocrine/paracrine hormones, belonging to the insulin gene superfamily. In humans there are three non-allelic relaxin genes, RLN1, RLN2 and RLN3, where RLN1 and RLN2 share high sequence homology. The protein encoded by this gene is synthesized as a single-chain polypeptide but the active form consists of an A chain and a B chain linked by disulfide bonds. Relaxin is produced by the ovary, and targets the mammalian reproductive system to ripen the cervix, elongate the pubic symphysis and inhibit uterine contraction. It may have additional roles in enhancing sperm motility, regulating blood pressure, controlling heart rate and releasing oxytocin and vasopressin. [provided by RefSeq, Jan 2013]
PHENOTYPE: Inactivation of this locus is compatible with fertility but not normal mammary gland development. Postpartum, homozygous mutant females exhibit slight nipples that are insufficient for suckling. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
T |
C |
8: 71,909,963 (GRCm39) |
E395G |
probably damaging |
Het |
| Agbl2 |
T |
C |
2: 90,624,304 (GRCm39) |
V188A |
possibly damaging |
Het |
| Arap3 |
A |
G |
18: 38,108,979 (GRCm39) |
L1225P |
probably damaging |
Het |
| Btn2a2 |
A |
T |
13: 23,662,746 (GRCm39) |
N372K |
probably damaging |
Het |
| C4b |
T |
C |
17: 34,947,865 (GRCm39) |
D1650G |
probably damaging |
Het |
| Dip2b |
G |
A |
15: 100,072,382 (GRCm39) |
R706Q |
probably damaging |
Het |
| Dscam |
T |
A |
16: 96,409,265 (GRCm39) |
N1886I |
possibly damaging |
Het |
| Foxp2 |
A |
T |
6: 15,403,818 (GRCm39) |
H390L |
probably damaging |
Het |
| Galnt5 |
T |
C |
2: 57,889,080 (GRCm39) |
S227P |
probably benign |
Het |
| Hectd2 |
A |
G |
19: 36,562,336 (GRCm39) |
T148A |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,874,799 (GRCm39) |
W1898* |
probably null |
Het |
| Hmgxb4 |
C |
A |
8: 75,727,539 (GRCm39) |
P174Q |
probably damaging |
Het |
| Il6st |
A |
G |
13: 112,617,967 (GRCm39) |
|
probably null |
Het |
| Lef1 |
A |
G |
3: 130,997,926 (GRCm39) |
R312G |
probably damaging |
Het |
| Mast2 |
G |
T |
4: 116,168,526 (GRCm39) |
R805S |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,291,395 (GRCm39) |
R1181K |
probably benign |
Het |
| Nfatc1 |
G |
T |
18: 80,710,241 (GRCm39) |
H508Q |
probably damaging |
Het |
| Pabir1 |
T |
C |
19: 24,453,996 (GRCm39) |
D242G |
probably damaging |
Het |
| Plekhg4 |
A |
G |
8: 106,102,370 (GRCm39) |
T76A |
probably benign |
Het |
| Slc22a28 |
T |
C |
19: 8,094,428 (GRCm39) |
I198V |
probably benign |
Het |
| Slco1c1 |
G |
A |
6: 141,515,208 (GRCm39) |
R702H |
probably benign |
Het |
| Slit1 |
T |
A |
19: 41,612,940 (GRCm39) |
H860L |
probably damaging |
Het |
| Slk |
A |
G |
19: 47,630,535 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
A |
T |
14: 30,881,686 (GRCm39) |
I535N |
probably benign |
Het |
| Tigar |
A |
C |
6: 127,065,042 (GRCm39) |
M202R |
probably damaging |
Het |
| Tsc22d1 |
A |
G |
14: 76,655,917 (GRCm39) |
S42G |
probably damaging |
Het |
| Zc3h7a |
A |
T |
16: 10,955,202 (GRCm39) |
N957K |
probably damaging |
Het |
|
| Other mutations in Rln1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01607:Rln1
|
APN |
19 |
29,309,260 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02415:Rln1
|
APN |
19 |
29,311,798 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0184:Rln1
|
UTSW |
19 |
29,309,336 (GRCm39) |
nonsense |
probably null |
|
|
R1670:Rln1
|
UTSW |
19 |
29,309,468 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1965:Rln1
|
UTSW |
19 |
29,311,995 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
R4434:Rln1
|
UTSW |
19 |
29,311,962 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4437:Rln1
|
UTSW |
19 |
29,311,962 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4438:Rln1
|
UTSW |
19 |
29,311,962 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5525:Rln1
|
UTSW |
19 |
29,311,920 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6484:Rln1
|
UTSW |
19 |
29,311,902 (GRCm39) |
missense |
probably benign |
|
|
R6648:Rln1
|
UTSW |
19 |
29,309,521 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7624:Rln1
|
UTSW |
19 |
29,309,499 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8719:Rln1
|
UTSW |
19 |
29,309,281 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Posted On |
2012-12-06 |
Incidental Mutation