Incidental Mutation 'R2441:P3h4'
| ID |
249790 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
P3h4
|
| Ensembl Gene |
ENSMUSG00000006931 |
| Gene Name |
prolyl 3-hydroxylase family member 4 (non-enzymatic) |
| Synonyms |
1110036O03Rik, Leprel4 |
| MMRRC Submission |
040399-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R2441 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
100299293-100305542 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 100304594 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 216
(R216W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065278
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001595]
[ENSMUST00000066489]
[ENSMUST00000107400]
|
| AlphaFold |
Q8K2B0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001595
|
| SMART Domains |
Protein: ENSMUSP00000001595
Gene: ENSMUSG00000001555
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
Pfam:FKBP_C
|
54 |
146 |
5.4e-30 |
PFAM |
|
Pfam:FKBP_C
|
166 |
258 |
4e-29 |
PFAM |
|
Pfam:FKBP_C
|
278 |
370 |
2.3e-28 |
PFAM |
|
Pfam:FKBP_C
|
391 |
482 |
6.2e-26 |
PFAM |
|
EFh
|
503 |
528 |
2.16e0 |
SMART |
|
EFh
|
545 |
573 |
2.04e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066489
AA Change: R216W
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000065278
Gene: ENSMUSG00000006931
AA Change: R216W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
70 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
104 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
151 |
215 |
5.16e-8 |
PROSPERO |
|
internal_repeat_1
|
302 |
364 |
5.16e-8 |
PROSPERO |
|
low complexity region
|
385 |
408 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107400
|
| SMART Domains |
Protein: ENSMUSP00000103023
Gene: ENSMUSG00000001555
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
Pfam:FKBP_C
|
54 |
146 |
1.4e-29 |
PFAM |
|
Pfam:FKBP_C
|
166 |
258 |
2e-29 |
PFAM |
|
Pfam:FKBP_C
|
279 |
370 |
4.9e-26 |
PFAM |
|
EFh
|
391 |
416 |
2.16e0 |
SMART |
|
EFh
|
433 |
461 |
2.04e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134815
|
| SMART Domains |
Protein: ENSMUSP00000123577
Gene: ENSMUSG00000001555
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FKBP_C
|
34 |
65 |
1.6e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141840
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This nucleolar protein was first characterized because it was an autoantigen in cases on interstitial cystitis. The protein, with a predicted molecular weight of 50 kDa, appears to be localized in the particulate compartment of the interphase nucleolus, with a distribution distinct from that of nucleolar protein B23. During mitosis it is associated with chromosomes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased trabecular volume, compact bone thickness, skin tensile strength and muscle below the hypodermis with decreased cutaneous collagen fiber density. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,385,449 (GRCm39) |
N172S |
possibly damaging |
Het |
| AY358078 |
A |
G |
14: 52,037,546 (GRCm39) |
H15R |
probably benign |
Het |
| Boc |
A |
G |
16: 44,308,986 (GRCm39) |
V842A |
probably damaging |
Het |
| Chuk |
T |
A |
19: 44,085,360 (GRCm39) |
N262I |
probably damaging |
Het |
| Erich6 |
A |
T |
3: 58,526,232 (GRCm39) |
L590Q |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,815,685 (GRCm39) |
H3806L |
possibly damaging |
Het |
| Gucy1b1 |
T |
C |
3: 81,952,761 (GRCm39) |
D224G |
probably damaging |
Het |
| Hgf |
A |
T |
5: 16,809,788 (GRCm39) |
H426L |
probably damaging |
Het |
| Nrxn2 |
G |
T |
19: 6,478,331 (GRCm39) |
G85W |
probably damaging |
Het |
| Ntrk3 |
A |
T |
7: 77,952,410 (GRCm39) |
N602K |
probably damaging |
Het |
| Or13p10 |
G |
A |
4: 118,523,332 (GRCm39) |
G206D |
possibly damaging |
Het |
| Or5p51 |
T |
C |
7: 107,444,185 (GRCm39) |
T252A |
probably benign |
Het |
| Pced1b |
T |
A |
15: 97,282,166 (GRCm39) |
D68E |
possibly damaging |
Het |
| Pzp |
A |
T |
6: 128,466,731 (GRCm39) |
L1161* |
probably null |
Het |
| Rprd1a |
A |
T |
18: 24,640,257 (GRCm39) |
L173* |
probably null |
Het |
| Slfn3 |
A |
G |
11: 83,103,509 (GRCm39) |
I127V |
probably benign |
Het |
| Sp100 |
A |
G |
1: 85,631,210 (GRCm39) |
|
probably benign |
Het |
| Tbx15 |
T |
G |
3: 99,259,827 (GRCm39) |
M566R |
probably damaging |
Het |
| Tesmin |
G |
A |
19: 3,452,577 (GRCm39) |
|
probably null |
Het |
| Tmem132a |
A |
G |
19: 10,837,501 (GRCm39) |
V603A |
probably damaging |
Het |
| Tob2 |
G |
T |
15: 81,735,923 (GRCm39) |
Y15* |
probably null |
Het |
| Trim23 |
A |
T |
13: 104,328,583 (GRCm39) |
Q307L |
probably damaging |
Het |
| Trpc4 |
A |
T |
3: 54,129,704 (GRCm39) |
I157L |
probably damaging |
Het |
| Tsen34 |
A |
T |
7: 3,697,994 (GRCm39) |
K87N |
possibly damaging |
Het |
| Ubr5 |
A |
G |
15: 37,989,589 (GRCm39) |
S2076P |
probably damaging |
Het |
| Vmn2r59 |
C |
T |
7: 41,695,570 (GRCm39) |
V281I |
probably benign |
Het |
| Vwa3b |
T |
C |
1: 37,182,150 (GRCm39) |
|
probably benign |
Het |
| Zfp384 |
C |
T |
6: 125,013,612 (GRCm39) |
P544L |
probably benign |
Het |
|
| Other mutations in P3h4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02208:P3h4
|
APN |
11 |
100,304,901 (GRCm39) |
missense |
probably damaging |
0.96 |
|
slight
|
UTSW |
11 |
100,302,671 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2204:P3h4
|
UTSW |
11 |
100,304,832 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4356:P3h4
|
UTSW |
11 |
100,304,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4358:P3h4
|
UTSW |
11 |
100,304,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5762:P3h4
|
UTSW |
11 |
100,302,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5877:P3h4
|
UTSW |
11 |
100,304,843 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6167:P3h4
|
UTSW |
11 |
100,302,671 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6371:P3h4
|
UTSW |
11 |
100,302,575 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7830:P3h4
|
UTSW |
11 |
100,304,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9652:P3h4
|
UTSW |
11 |
100,304,499 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATACCTCACAGTGGTCTGAATGG -3'
(R):5'- GCTGGATATTGGAGATGAGTCCC -3'
Sequencing Primer
(F):5'- GAATGGTATATACCTGCTATCGCTG -3'
(R):5'- GATATTGGAGATGAGTCCCTCACC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation