Incidental Mutation 'R6833:Prox1'
| ID |
534427 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prox1
|
| Ensembl Gene |
ENSMUSG00000010175 |
| Gene Name |
prospero homeobox 1 |
| Synonyms |
A230003G05Rik |
| MMRRC Submission |
044942-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6833 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
189850232-189902911 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 189892975 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 490
(A490V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135066
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010319]
[ENSMUST00000175916]
[ENSMUST00000177288]
|
| AlphaFold |
P48437 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000010319
AA Change: A490V
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000010319
Gene: ENSMUSG00000010175
AA Change: A490V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
208 |
223 |
N/A |
INTRINSIC |
|
SCOP:d1fxkc_
|
227 |
363 |
9e-5 |
SMART |
|
low complexity region
|
514 |
526 |
N/A |
INTRINSIC |
|
low complexity region
|
529 |
545 |
N/A |
INTRINSIC |
|
Pfam:HPD
|
578 |
735 |
8.9e-91 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000175916
AA Change: A490V
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135703
Gene: ENSMUSG00000010175
AA Change: A490V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
208 |
223 |
N/A |
INTRINSIC |
|
SCOP:d1fxkc_
|
227 |
363 |
9e-5 |
SMART |
|
low complexity region
|
514 |
526 |
N/A |
INTRINSIC |
|
low complexity region
|
529 |
545 |
N/A |
INTRINSIC |
|
Pfam:HPD
|
578 |
735 |
8.9e-91 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177288
AA Change: A490V
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135066
Gene: ENSMUSG00000010175
AA Change: A490V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
208 |
223 |
N/A |
INTRINSIC |
|
SCOP:d1fxkc_
|
227 |
363 |
9e-5 |
SMART |
|
low complexity region
|
514 |
526 |
N/A |
INTRINSIC |
|
low complexity region
|
529 |
545 |
N/A |
INTRINSIC |
|
Pfam:HPD
|
579 |
732 |
2.2e-86 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
96% (54/56) |
| 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 homeobox transcription factor family. Members of this family contain a homeobox domain that consists of a 60-amino acid helix-turn-helix structure that binds DNA and RNA. The protein encoded by this gene is conserved across vertebrates and may play an essential role during development. Altered levels of this protein have been reported in cancers of different organs, such as colon, brain, blood, breast, pancreas, liver and esophagus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality with impaired development of the lens, lymphatic system, liver and pancreas. Heterozygous mutation results in early postnatal lethality with varying penetrance on different genetic backgrounds, obesity and lymphatic vessel abnormalities [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
T |
A |
1: 11,658,733 (GRCm39) |
W215R |
probably damaging |
Het |
| Aco1 |
A |
G |
4: 40,164,747 (GRCm39) |
K79R |
probably benign |
Het |
| Adam28 |
C |
T |
14: 68,855,576 (GRCm39) |
A630T |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,439,480 (GRCm39) |
K1105E |
probably benign |
Het |
| Angptl1 |
A |
T |
1: 156,672,263 (GRCm39) |
I30L |
probably benign |
Het |
| Astn1 |
A |
T |
1: 158,491,692 (GRCm39) |
Q47L |
probably benign |
Het |
| Atf6b |
T |
C |
17: 34,868,131 (GRCm39) |
S135P |
probably damaging |
Het |
| Ccdc122 |
G |
T |
14: 77,326,371 (GRCm39) |
|
probably benign |
Het |
| Cers3 |
T |
C |
7: 66,429,419 (GRCm39) |
|
probably null |
Het |
| Dcaf10 |
T |
C |
4: 45,373,043 (GRCm39) |
C95R |
probably damaging |
Het |
| Dcxr |
A |
G |
11: 120,616,917 (GRCm39) |
Y149H |
probably damaging |
Het |
| Dmxl1 |
A |
T |
18: 50,088,890 (GRCm39) |
I2790F |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,352,580 (GRCm39) |
C2578S |
probably benign |
Het |
| Dnttip2 |
T |
C |
3: 122,070,452 (GRCm39) |
S556P |
probably damaging |
Het |
| Efr3a |
T |
G |
15: 65,714,535 (GRCm39) |
V301G |
probably damaging |
Het |
| Eml5 |
A |
T |
12: 98,853,283 (GRCm39) |
H105Q |
probably damaging |
Het |
| Enpp3 |
T |
A |
10: 24,685,768 (GRCm39) |
H44L |
probably damaging |
Het |
| Fam120a |
A |
G |
13: 49,087,517 (GRCm39) |
V281A |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
| Ferd3l |
G |
A |
12: 33,978,537 (GRCm39) |
V17I |
probably damaging |
Het |
| Glb1l |
A |
G |
1: 75,178,397 (GRCm39) |
V347A |
possibly damaging |
Het |
| Gm4846 |
A |
T |
1: 166,322,147 (GRCm39) |
I140N |
possibly damaging |
Het |
| Gm9195 |
T |
C |
14: 72,671,856 (GRCm39) |
T2586A |
possibly damaging |
Het |
| Hsd17b8 |
T |
C |
17: 34,246,191 (GRCm39) |
S161G |
probably damaging |
Het |
| Hsp90ab1 |
T |
C |
17: 45,881,393 (GRCm39) |
I250V |
probably benign |
Het |
| Il11ra1 |
A |
G |
4: 41,765,454 (GRCm39) |
H183R |
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,624,605 (GRCm39) |
C1450Y |
probably damaging |
Het |
| Lgals7 |
G |
A |
7: 28,565,087 (GRCm39) |
R75Q |
probably damaging |
Het |
| Lpcat3 |
A |
G |
6: 124,676,974 (GRCm39) |
Y124C |
probably damaging |
Het |
| Lrrc8a |
T |
A |
2: 30,145,659 (GRCm39) |
S158T |
possibly damaging |
Het |
| Mcm3 |
A |
T |
1: 20,880,320 (GRCm39) |
M504K |
possibly damaging |
Het |
| Mro |
G |
T |
18: 73,997,003 (GRCm39) |
|
probably benign |
Het |
| Mybpc3 |
A |
G |
2: 90,955,773 (GRCm39) |
|
probably null |
Het |
| Myh14 |
T |
A |
7: 44,273,803 (GRCm39) |
K1356* |
probably null |
Het |
| Myo5b |
A |
C |
18: 74,903,396 (GRCm39) |
Q1804P |
probably benign |
Het |
| Nol10 |
A |
G |
12: 17,402,728 (GRCm39) |
I67V |
probably benign |
Het |
| Pam |
T |
A |
1: 97,765,717 (GRCm39) |
I771F |
probably damaging |
Het |
| Pcdhgb8 |
G |
T |
18: 37,895,142 (GRCm39) |
A71S |
probably benign |
Het |
| Pmfbp1 |
T |
C |
8: 110,265,307 (GRCm39) |
|
probably null |
Het |
| Poc1b |
C |
T |
10: 99,028,666 (GRCm39) |
A336V |
probably benign |
Het |
| Poglut3 |
A |
G |
9: 53,303,308 (GRCm39) |
I67V |
possibly damaging |
Het |
| Prap1 |
C |
A |
7: 139,674,995 (GRCm39) |
A20E |
possibly damaging |
Het |
| Prss39 |
G |
T |
1: 34,537,697 (GRCm39) |
V54F |
possibly damaging |
Het |
| Sema3b |
T |
A |
9: 107,480,515 (GRCm39) |
E144V |
probably benign |
Het |
| Sft2d1 |
C |
T |
17: 8,537,707 (GRCm39) |
T32I |
possibly damaging |
Het |
| Smpd2 |
C |
T |
10: 41,364,442 (GRCm39) |
A160T |
probably damaging |
Het |
| Stard9 |
G |
T |
2: 120,531,740 (GRCm39) |
V2666F |
probably damaging |
Het |
| Syt7 |
T |
A |
19: 10,421,508 (GRCm39) |
M400K |
probably damaging |
Het |
| Thoc5 |
T |
C |
11: 4,869,804 (GRCm39) |
L402P |
probably damaging |
Het |
| Tinf2 |
A |
T |
14: 55,919,037 (GRCm39) |
M1K |
probably null |
Het |
| Ttc21a |
A |
G |
9: 119,771,701 (GRCm39) |
I167V |
probably benign |
Het |
| Vldlr |
T |
C |
19: 27,217,974 (GRCm39) |
L474P |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,340,294 (GRCm39) |
V845A |
probably benign |
Het |
| Zdhhc7 |
A |
T |
8: 120,811,663 (GRCm39) |
M180K |
probably damaging |
Het |
| Zfp735 |
G |
A |
11: 73,601,434 (GRCm39) |
G126D |
probably damaging |
Het |
|
| Other mutations in Prox1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00588:Prox1
|
APN |
1 |
189,855,607 (GRCm39) |
splice site |
probably benign |
|
|
IGL01729:Prox1
|
APN |
1 |
189,893,372 (GRCm39) |
missense |
probably benign |
|
|
IGL02167:Prox1
|
APN |
1 |
189,893,477 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02416:Prox1
|
APN |
1 |
189,893,327 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02419:Prox1
|
APN |
1 |
189,893,327 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03234:Prox1
|
APN |
1 |
189,893,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0069:Prox1
|
UTSW |
1 |
189,893,116 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0514:Prox1
|
UTSW |
1 |
189,893,653 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1249:Prox1
|
UTSW |
1 |
189,879,258 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1299:Prox1
|
UTSW |
1 |
189,879,140 (GRCm39) |
splice site |
probably benign |
|
|
R1601:Prox1
|
UTSW |
1 |
189,893,203 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1893:Prox1
|
UTSW |
1 |
189,892,715 (GRCm39) |
splice site |
probably benign |
|
|
R2090:Prox1
|
UTSW |
1 |
189,893,009 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2366:Prox1
|
UTSW |
1 |
189,894,079 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4614:Prox1
|
UTSW |
1 |
189,894,205 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4799:Prox1
|
UTSW |
1 |
189,885,669 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4873:Prox1
|
UTSW |
1 |
189,894,319 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4875:Prox1
|
UTSW |
1 |
189,894,319 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5124:Prox1
|
UTSW |
1 |
189,893,476 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5149:Prox1
|
UTSW |
1 |
189,879,250 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5256:Prox1
|
UTSW |
1 |
189,893,638 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5545:Prox1
|
UTSW |
1 |
189,879,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5985:Prox1
|
UTSW |
1 |
189,879,152 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5993:Prox1
|
UTSW |
1 |
189,894,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7335:Prox1
|
UTSW |
1 |
189,894,042 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7385:Prox1
|
UTSW |
1 |
189,894,323 (GRCm39) |
missense |
probably benign |
|
|
R7572:Prox1
|
UTSW |
1 |
189,855,583 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7608:Prox1
|
UTSW |
1 |
189,885,642 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7655:Prox1
|
UTSW |
1 |
189,894,418 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7656:Prox1
|
UTSW |
1 |
189,894,418 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8070:Prox1
|
UTSW |
1 |
189,893,107 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8730:Prox1
|
UTSW |
1 |
189,894,238 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9141:Prox1
|
UTSW |
1 |
189,892,511 (GRCm39) |
splice site |
probably null |
|
|
R9216:Prox1
|
UTSW |
1 |
189,892,905 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9273:Prox1
|
UTSW |
1 |
189,893,242 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1088:Prox1
|
UTSW |
1 |
189,894,196 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTGACAAAGAGAGTCCTTCTG -3'
(R):5'- TGGACACCTTTGGCAGTGTG -3'
Sequencing Primer
(F):5'- CAAAGAGAGTCCTTCTGCGGTG -3'
(R):5'- TGTGCAGATGCCTAGTTCCACAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation