Incidental Mutation 'R4006:Reg1'
| ID |
311467 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Reg1
|
| Ensembl Gene |
ENSMUSG00000059654 |
| Gene Name |
regenerating islet-derived 1 |
| Synonyms |
pancreatic stone protein |
| MMRRC Submission |
040845-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4006 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
78402966-78405651 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78404013 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 60
(D60G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145161
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079926]
[ENSMUST00000204601]
[ENSMUST00000204687]
|
| AlphaFold |
P43137 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000079926
AA Change: D60G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000078847
Gene: ENSMUSG00000059654
AA Change: D60G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
CLECT
|
35 |
162 |
1.17e-34 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000204601
AA Change: D60G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144840
Gene: ENSMUSG00000059654
AA Change: D60G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
CLECT
|
35 |
162 |
1.17e-34 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000204687
AA Change: D60G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000145161
Gene: ENSMUSG00000059654
AA Change: D60G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
CLECT
|
35 |
162 |
1.17e-34 |
SMART |
|
| Meta Mutation Damage Score |
0.3654 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a type I subclass member of the Reg gene family. The Reg gene family is a multigene family grouped into four subclasses, types I, II, III and IV, based on the primary structures of the encoded proteins. This gene encodes a protein that is secreted by the exocrine pancreas. It is associated with islet cell regeneration and diabetogenesis and may be involved in pancreatic lithogenesis. Reg family members REG1B, REGL, PAP and this gene are tandemly clustered on chromosome 2p12 and may have arisen from the same ancestral gene by gene duplication. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation appear normal. However, [3-H] thymidine incorporation into isolated pancreatic islets was reduced and GTG-induced islet hyperplasia was attenuated, suggesting a role for this gene in islet cell growth or regeneration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts14 |
A |
G |
10: 61,038,600 (GRCm39) |
|
probably null |
Het |
| Ano4 |
C |
A |
10: 88,924,125 (GRCm39) |
V329L |
probably benign |
Het |
| Camkv |
C |
T |
9: 107,823,840 (GRCm39) |
R196W |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,660,188 (GRCm39) |
S383P |
probably benign |
Het |
| Cimip1 |
T |
C |
2: 173,367,880 (GRCm39) |
|
probably null |
Het |
| Cul4a |
A |
G |
8: 13,172,859 (GRCm39) |
N164S |
probably benign |
Het |
| Dsg4 |
G |
A |
18: 20,604,022 (GRCm39) |
E830K |
probably damaging |
Het |
| Fbln2 |
C |
A |
6: 91,246,943 (GRCm39) |
|
probably null |
Het |
| Grm8 |
T |
C |
6: 27,981,229 (GRCm39) |
Y227C |
probably damaging |
Het |
| Gsn |
G |
A |
2: 35,197,633 (GRCm39) |
W717* |
probably null |
Het |
| Htr2a |
A |
T |
14: 74,879,581 (GRCm39) |
H70L |
probably benign |
Het |
| Igfn1 |
C |
T |
1: 135,910,100 (GRCm39) |
|
probably null |
Het |
| Iqsec3 |
A |
G |
6: 121,353,187 (GRCm39) |
S1144P |
probably damaging |
Het |
| Lpin2 |
C |
T |
17: 71,553,496 (GRCm39) |
T878I |
probably damaging |
Het |
| Lrrn2 |
A |
T |
1: 132,865,478 (GRCm39) |
D181V |
probably damaging |
Het |
| Mc1r |
T |
C |
8: 124,134,376 (GRCm39) |
F43S |
probably damaging |
Het |
| Mst1 |
A |
G |
9: 107,960,147 (GRCm39) |
E377G |
possibly damaging |
Het |
| Nfatc3 |
T |
A |
8: 106,835,471 (GRCm39) |
I931N |
probably benign |
Het |
| Nup188 |
G |
A |
2: 30,199,890 (GRCm39) |
D305N |
probably damaging |
Het |
| Or5e1 |
C |
T |
7: 108,354,468 (GRCm39) |
T135I |
probably damaging |
Het |
| Or8k35 |
T |
C |
2: 86,424,908 (GRCm39) |
D88G |
probably benign |
Het |
| Pate3 |
T |
A |
9: 35,557,398 (GRCm39) |
H86L |
probably damaging |
Het |
| Pla2r1 |
A |
T |
2: 60,353,217 (GRCm39) |
F248Y |
probably damaging |
Het |
| Ppp1r37 |
A |
G |
7: 19,268,994 (GRCm39) |
S169P |
probably damaging |
Het |
| Pramex1 |
A |
T |
X: 134,514,374 (GRCm39) |
L305Q |
probably damaging |
Het |
| Prkcg |
G |
A |
7: 3,375,983 (GRCm39) |
V492I |
probably damaging |
Het |
| Psmb11 |
T |
A |
14: 54,863,103 (GRCm39) |
V107E |
probably damaging |
Het |
| Shoc1 |
A |
T |
4: 59,076,500 (GRCm39) |
V481D |
possibly damaging |
Het |
| Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
| Trim23 |
A |
G |
13: 104,324,131 (GRCm39) |
T177A |
probably benign |
Het |
| Xkr4 |
A |
T |
1: 3,491,998 (GRCm39) |
F308L |
probably benign |
Het |
| Xylt1 |
A |
G |
7: 117,074,748 (GRCm39) |
I122V |
probably benign |
Het |
| Zan |
T |
C |
5: 137,462,201 (GRCm39) |
T993A |
unknown |
Het |
| Zbtb20 |
T |
C |
16: 43,429,762 (GRCm39) |
L18P |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,807,744 (GRCm39) |
I1767V |
probably benign |
Het |
| Zfp292 |
G |
T |
4: 34,809,611 (GRCm39) |
S1144R |
possibly damaging |
Het |
| Zfp317 |
T |
G |
9: 19,559,333 (GRCm39) |
W516G |
possibly damaging |
Het |
| Zfp974 |
G |
A |
7: 27,611,677 (GRCm39) |
T16I |
possibly damaging |
Het |
|
| Other mutations in Reg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02387:Reg1
|
APN |
6 |
78,404,321 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0709:Reg1
|
UTSW |
6 |
78,405,101 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1703:Reg1
|
UTSW |
6 |
78,405,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2943:Reg1
|
UTSW |
6 |
78,405,128 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4007:Reg1
|
UTSW |
6 |
78,404,013 (GRCm39) |
missense |
probably null |
0.98 |
|
R4780:Reg1
|
UTSW |
6 |
78,403,333 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4983:Reg1
|
UTSW |
6 |
78,405,196 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5884:Reg1
|
UTSW |
6 |
78,405,200 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6213:Reg1
|
UTSW |
6 |
78,404,386 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6222:Reg1
|
UTSW |
6 |
78,404,357 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8266:Reg1
|
UTSW |
6 |
78,404,342 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9040:Reg1
|
UTSW |
6 |
78,403,268 (GRCm39) |
splice site |
probably benign |
|
|
Z1088:Reg1
|
UTSW |
6 |
78,403,901 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCCATCCCAAGTCTATTCTG -3'
(R):5'- TCCCAGGATCTCTGTTTGGG -3'
Sequencing Primer
(F):5'- ATTCTGTATCCAAGGTCCTACAG -3'
(R):5'- GATCTCTGTTTGGGAAGGTATAAAAC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation