Incidental Mutation 'R5525:Rln1'
| ID |
431831 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rln1
|
| Ensembl Gene |
ENSMUSG00000039097 |
| Gene Name |
relaxin 1 |
| Synonyms |
rlx |
| MMRRC Submission |
043083-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5525 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
29331170-29334670 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29334520 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 26
(E26G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044143]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044143
AA Change: E26G
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000043376
Gene: ENSMUSG00000039097
AA Change: E26G
| 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 |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.9%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 79,099,983 (GRCm38) |
T1501A |
probably benign |
Het |
| Acin1 |
G |
A |
14: 54,664,391 (GRCm38) |
A648V |
possibly damaging |
Het |
| Agap1 |
A |
G |
1: 89,743,773 (GRCm38) |
T401A |
possibly damaging |
Het |
| Anapc4 |
T |
G |
5: 52,856,809 (GRCm38) |
M440R |
probably damaging |
Het |
| Ankrd26 |
A |
G |
6: 118,527,731 (GRCm38) |
M739T |
probably benign |
Het |
| Brip1 |
T |
C |
11: 86,110,447 (GRCm38) |
E721G |
possibly damaging |
Het |
| Bzw1 |
A |
G |
1: 58,402,906 (GRCm38) |
E221G |
possibly damaging |
Het |
| Cenpm |
A |
C |
15: 82,239,291 (GRCm38) |
|
probably null |
Het |
| Exosc1 |
T |
A |
19: 41,924,018 (GRCm38) |
K143N |
probably damaging |
Het |
| Fgd5 |
T |
A |
6: 92,066,247 (GRCm38) |
L1236Q |
probably damaging |
Het |
| Gemin6 |
T |
G |
17: 80,227,749 (GRCm38) |
V46G |
probably damaging |
Het |
| Grm3 |
C |
T |
5: 9,504,872 (GRCm38) |
V807I |
probably damaging |
Het |
| Kndc1 |
A |
G |
7: 139,924,111 (GRCm38) |
N1110S |
probably benign |
Het |
| Magi1 |
A |
T |
6: 93,792,373 (GRCm38) |
V17D |
possibly damaging |
Het |
| Mdn1 |
T |
G |
4: 32,767,961 (GRCm38) |
M5298R |
possibly damaging |
Het |
| Nlrp9c |
T |
A |
7: 26,384,501 (GRCm38) |
E551V |
probably damaging |
Het |
| Oacyl |
A |
C |
18: 65,745,356 (GRCm38) |
I457L |
probably benign |
Het |
| Olfr103 |
C |
T |
17: 37,336,626 (GRCm38) |
G202D |
probably damaging |
Het |
| Olfr1102 |
A |
T |
2: 87,002,339 (GRCm38) |
E123D |
possibly damaging |
Het |
| Olfr494 |
A |
G |
7: 108,367,999 (GRCm38) |
I170V |
probably benign |
Het |
| Rab11fip3 |
T |
C |
17: 25,991,295 (GRCm38) |
E996G |
probably damaging |
Het |
| Rabep1 |
T |
A |
11: 70,923,146 (GRCm38) |
S554T |
probably damaging |
Het |
| Rpf1 |
A |
G |
3: 146,517,804 (GRCm38) |
|
silent |
Het |
| Sdk1 |
T |
C |
5: 142,185,265 (GRCm38) |
V1961A |
possibly damaging |
Het |
| Serpinb8 |
A |
T |
1: 107,607,293 (GRCm38) |
I365F |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 144,070,109 (GRCm38) |
D277G |
probably damaging |
Het |
| Snapc4 |
ACTGCTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGC |
2: 26,369,526 (GRCm38) |
|
probably benign |
Het |
| Thsd7a |
T |
C |
6: 12,332,007 (GRCm38) |
T1269A |
possibly damaging |
Het |
| Ttll3 |
A |
G |
6: 113,412,978 (GRCm38) |
N776D |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,606,614 (GRCm38) |
E1483G |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,753,606 (GRCm38) |
D2971G |
probably benign |
Het |
| Zfp322a |
A |
G |
13: 23,357,515 (GRCm38) |
V19A |
probably benign |
Het |
| Zfp462 |
C |
A |
4: 55,050,281 (GRCm38) |
P2164T |
possibly damaging |
Het |
|
| Other mutations in Rln1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00515:Rln1
|
APN |
19 |
29,332,014 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
IGL01607:Rln1
|
APN |
19 |
29,331,860 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02415:Rln1
|
APN |
19 |
29,334,398 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0184:Rln1
|
UTSW |
19 |
29,331,936 (GRCm38) |
nonsense |
probably null |
|
|
R1670:Rln1
|
UTSW |
19 |
29,332,068 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1965:Rln1
|
UTSW |
19 |
29,334,595 (GRCm38) |
start codon destroyed |
probably null |
0.53 |
|
R4434:Rln1
|
UTSW |
19 |
29,334,562 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R4437:Rln1
|
UTSW |
19 |
29,334,562 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R4438:Rln1
|
UTSW |
19 |
29,334,562 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R6484:Rln1
|
UTSW |
19 |
29,334,502 (GRCm38) |
missense |
probably benign |
|
|
R6648:Rln1
|
UTSW |
19 |
29,332,121 (GRCm38) |
missense |
probably benign |
0.28 |
|
R7624:Rln1
|
UTSW |
19 |
29,332,099 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8719:Rln1
|
UTSW |
19 |
29,331,881 (GRCm38) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGGCTGGGGATCACAAAC -3'
(R):5'- CTCCCAAGGGATATAAAAGCCG -3'
Sequencing Primer
(F):5'- TGGTCAGCCAATGGGAAGC -3'
(R):5'- TATAAAAGCCGGATTGAGCACTG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation