Incidental Mutation 'R2891:Shprh'
| ID |
260101 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shprh
|
| Ensembl Gene |
ENSMUSG00000090112 |
| Gene Name |
SNF2 histone linker PHD RING helicase |
| Synonyms |
2610103K11Rik, D230017O13Rik |
| MMRRC Submission |
040479-MU
|
| Accession Numbers |
|
| Is this an essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2891 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
11149427-11217595 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 11164356 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 4
(S4R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044053]
[ENSMUST00000054814]
[ENSMUST00000159541]
[ENSMUST00000159810]
[ENSMUST00000160461]
|
| AlphaFold |
Q7TPQ3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044053
AA Change: S524R
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000039422
Gene: ENSMUSG00000090112
AA Change: S524R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
56 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
195 |
250 |
3e-12 |
BLAST |
|
low complexity region
|
253 |
265 |
N/A |
INTRINSIC |
|
DEXDc
|
295 |
866 |
4.02e-17 |
SMART |
|
H15
|
431 |
497 |
3.76e-5 |
SMART |
|
PHD
|
651 |
698 |
2.33e-5 |
SMART |
|
low complexity region
|
1393 |
1404 |
N/A |
INTRINSIC |
|
RING
|
1423 |
1469 |
9.68e-3 |
SMART |
|
Pfam:Helicase_C
|
1500 |
1613 |
1.6e-8 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054814
AA Change: S524R
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000125849
Gene: ENSMUSG00000090112
AA Change: S524R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
56 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
195 |
250 |
3e-12 |
BLAST |
|
low complexity region
|
253 |
265 |
N/A |
INTRINSIC |
|
DEXDc
|
295 |
866 |
4.02e-17 |
SMART |
|
H15
|
431 |
497 |
3.76e-5 |
SMART |
|
PHD
|
651 |
698 |
2.33e-5 |
SMART |
|
low complexity region
|
1393 |
1404 |
N/A |
INTRINSIC |
|
RING
|
1423 |
1469 |
9.68e-3 |
SMART |
|
SCOP:d1fuka_
|
1504 |
1616 |
6e-8 |
SMART |
|
Blast:HELICc
|
1533 |
1613 |
4e-46 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159541
AA Change: S524R
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000132870
Gene: ENSMUSG00000090112
AA Change: S524R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
56 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
195 |
250 |
3e-12 |
BLAST |
|
low complexity region
|
253 |
265 |
N/A |
INTRINSIC |
|
DEXDc
|
295 |
866 |
4.02e-17 |
SMART |
|
H15
|
431 |
497 |
3.76e-5 |
SMART |
|
PHD
|
651 |
698 |
2.33e-5 |
SMART |
|
low complexity region
|
1393 |
1404 |
N/A |
INTRINSIC |
|
RING
|
1423 |
1469 |
9.68e-3 |
SMART |
|
SCOP:d1fuka_
|
1504 |
1619 |
4e-8 |
SMART |
|
Blast:HELICc
|
1533 |
1613 |
6e-46 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159553
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159810
AA Change: S524R
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000125457
Gene: ENSMUSG00000090112
AA Change: S524R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
56 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
195 |
250 |
2e-12 |
BLAST |
|
low complexity region
|
253 |
265 |
N/A |
INTRINSIC |
|
DEXDc
|
295 |
866 |
4.02e-17 |
SMART |
|
H15
|
431 |
497 |
3.76e-5 |
SMART |
|
PHD
|
651 |
698 |
2.33e-5 |
SMART |
|
Blast:DEXDc
|
948 |
1026 |
2e-9 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160461
AA Change: S4R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125127
Gene: ENSMUSG00000090112
AA Change: S4R
| Domain | Start | End | E-Value | Type |
|---|
|
PHD
|
131 |
178 |
2.33e-5 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SHPRH is a ubiquitously expressed protein that contains motifs characteristics of several DNA repair proteins, transcription factors, and helicases. SHPRH is a functional homolog of S. cerevisiae RAD5 (Unk et al., 2006 [PubMed 17108083]).[supplied by OMIM, Mar 2008]
PHENOTYPE: The gene product is an E3 ligase involved in poly-ubiquitination of Pcna. Neither homozygous truncation nor KO affect B cell somatic hypermutation or class switching. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
T |
C |
5: 81,693,519 |
Y816H |
probably damaging |
Het |
| Clcn6 |
C |
T |
4: 148,012,616 |
|
probably null |
Het |
| Farp1 |
C |
T |
14: 121,256,736 |
A543V |
probably damaging |
Het |
| Hhat |
T |
C |
1: 192,595,086 |
Y355C |
probably damaging |
Het |
| Ireb2 |
A |
T |
9: 54,899,990 |
H612L |
probably benign |
Het |
| Kcnj3 |
A |
T |
2: 55,447,015 |
I298F |
probably damaging |
Het |
| Kdr |
A |
G |
5: 75,946,836 |
F1016L |
probably damaging |
Het |
| Klf7 |
T |
C |
1: 64,042,362 |
Y269C |
probably damaging |
Het |
| Klhl9 |
T |
C |
4: 88,720,970 |
I345V |
probably benign |
Het |
| Miga2 |
A |
T |
2: 30,378,294 |
|
probably null |
Het |
| Nadk |
A |
G |
4: 155,587,360 |
N232S |
possibly damaging |
Het |
| Ncoa6 |
T |
A |
2: 155,437,961 |
D45V |
possibly damaging |
Het |
| Pcnx2 |
A |
G |
8: 125,891,058 |
S153P |
probably damaging |
Het |
| Per2 |
C |
A |
1: 91,445,603 |
Q154H |
probably damaging |
Het |
| Pik3ap1 |
G |
A |
19: 41,376,061 |
A73V |
probably benign |
Het |
| Plod3 |
G |
C |
5: 136,988,146 |
A50P |
probably benign |
Het |
| Rapsn |
A |
T |
2: 91,036,824 |
D157V |
probably damaging |
Het |
| Taar8a |
G |
A |
10: 24,077,130 |
V211I |
probably benign |
Het |
| Vpreb3 |
C |
T |
10: 75,943,222 |
|
probably benign |
Het |
|
| Other mutations in Shprh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00492:Shprh
|
APN |
10 |
11188158 |
missense |
probably damaging |
1.00 |
|
IGL00583:Shprh
|
APN |
10 |
11188020 |
missense |
probably benign |
0.37 |
|
IGL00684:Shprh
|
APN |
10 |
11163037 |
missense |
probably benign |
0.11 |
|
IGL01295:Shprh
|
APN |
10 |
11183868 |
missense |
probably damaging |
0.96 |
|
IGL01387:Shprh
|
APN |
10 |
11170254 |
missense |
probably damaging |
1.00 |
|
IGL01635:Shprh
|
APN |
10 |
11170019 |
nonsense |
probably null |
|
|
IGL01833:Shprh
|
APN |
10 |
11191062 |
missense |
probably damaging |
1.00 |
|
IGL02013:Shprh
|
APN |
10 |
11181502 |
splice site |
probably benign |
|
|
IGL02502:Shprh
|
APN |
10 |
11194357 |
missense |
possibly damaging |
0.66 |
|
IGL02819:Shprh
|
APN |
10 |
11154765 |
missense |
possibly damaging |
0.93 |
|
PIT4581001:Shprh
|
UTSW |
10 |
11192494 |
frame shift |
probably null |
|
|
R0010:Shprh
|
UTSW |
10 |
11151931 |
missense |
probably benign |
|
|
R0010:Shprh
|
UTSW |
10 |
11151931 |
missense |
probably benign |
|
|
R0053:Shprh
|
UTSW |
10 |
11194372 |
splice site |
probably null |
|
|
R0053:Shprh
|
UTSW |
10 |
11194372 |
splice site |
probably null |
|
|
R0255:Shprh
|
UTSW |
10 |
11186391 |
missense |
possibly damaging |
0.92 |
|
R0325:Shprh
|
UTSW |
10 |
11170109 |
missense |
probably benign |
0.00 |
|
R0331:Shprh
|
UTSW |
10 |
11194170 |
splice site |
probably benign |
|
|
R0494:Shprh
|
UTSW |
10 |
11157191 |
missense |
probably damaging |
1.00 |
|
R0532:Shprh
|
UTSW |
10 |
11162812 |
missense |
possibly damaging |
0.90 |
|
R0546:Shprh
|
UTSW |
10 |
11183887 |
splice site |
probably benign |
|
|
R0574:Shprh
|
UTSW |
10 |
11163077 |
unclassified |
probably benign |
|
|
R0605:Shprh
|
UTSW |
10 |
11207112 |
missense |
probably damaging |
1.00 |
|
R0662:Shprh
|
UTSW |
10 |
11186847 |
missense |
probably damaging |
1.00 |
|
R1148:Shprh
|
UTSW |
10 |
11213482 |
missense |
possibly damaging |
0.95 |
|
R1148:Shprh
|
UTSW |
10 |
11213482 |
missense |
possibly damaging |
0.95 |
|
R1263:Shprh
|
UTSW |
10 |
11159530 |
missense |
probably damaging |
1.00 |
|
R1588:Shprh
|
UTSW |
10 |
11164744 |
missense |
probably damaging |
1.00 |
|
R1638:Shprh
|
UTSW |
10 |
11157078 |
missense |
probably benign |
|
|
R1830:Shprh
|
UTSW |
10 |
11186911 |
splice site |
probably null |
|
|
R1898:Shprh
|
UTSW |
10 |
11186869 |
missense |
probably damaging |
1.00 |
|
R1903:Shprh
|
UTSW |
10 |
11183797 |
nonsense |
probably null |
|
|
R2060:Shprh
|
UTSW |
10 |
11152120 |
missense |
probably benign |
0.03 |
|
R2225:Shprh
|
UTSW |
10 |
11162235 |
unclassified |
probably benign |
|
|
R2363:Shprh
|
UTSW |
10 |
11171953 |
missense |
probably damaging |
1.00 |
|
R2509:Shprh
|
UTSW |
10 |
11166724 |
missense |
probably damaging |
1.00 |
|
R3077:Shprh
|
UTSW |
10 |
11170413 |
missense |
probably damaging |
1.00 |
|
R3150:Shprh
|
UTSW |
10 |
11170030 |
missense |
probably damaging |
0.97 |
|
R3796:Shprh
|
UTSW |
10 |
11178757 |
missense |
possibly damaging |
0.89 |
|
R4196:Shprh
|
UTSW |
10 |
11207860 |
utr 3 prime |
probably benign |
|
|
R4423:Shprh
|
UTSW |
10 |
11186518 |
missense |
possibly damaging |
0.82 |
|
R4488:Shprh
|
UTSW |
10 |
11160471 |
missense |
probably benign |
0.17 |
|
R4748:Shprh
|
UTSW |
10 |
11170476 |
missense |
probably damaging |
1.00 |
|
R4768:Shprh
|
UTSW |
10 |
11181540 |
missense |
probably damaging |
0.96 |
|
R4867:Shprh
|
UTSW |
10 |
11164557 |
missense |
probably benign |
0.00 |
|
R4937:Shprh
|
UTSW |
10 |
11157119 |
missense |
probably benign |
|
|
R5140:Shprh
|
UTSW |
10 |
11154705 |
missense |
probably benign |
0.03 |
|
R5318:Shprh
|
UTSW |
10 |
11166557 |
missense |
probably benign |
0.04 |
|
R5323:Shprh
|
UTSW |
10 |
11170297 |
splice site |
probably null |
|
|
R5450:Shprh
|
UTSW |
10 |
11212330 |
missense |
possibly damaging |
0.70 |
|
R5872:Shprh
|
UTSW |
10 |
11188073 |
missense |
probably damaging |
1.00 |
|
R6030:Shprh
|
UTSW |
10 |
11151991 |
missense |
probably benign |
0.37 |
|
R6030:Shprh
|
UTSW |
10 |
11151991 |
missense |
probably benign |
0.37 |
|
R6392:Shprh
|
UTSW |
10 |
11178741 |
nonsense |
probably null |
|
|
R6416:Shprh
|
UTSW |
10 |
11167873 |
missense |
probably damaging |
1.00 |
|
R6470:Shprh
|
UTSW |
10 |
11171937 |
missense |
probably damaging |
0.98 |
|
R6513:Shprh
|
UTSW |
10 |
11186893 |
missense |
probably damaging |
1.00 |
|
R6530:Shprh
|
UTSW |
10 |
11194267 |
missense |
probably benign |
0.02 |
|
R6678:Shprh
|
UTSW |
10 |
11166545 |
missense |
probably benign |
0.16 |
|
R6757:Shprh
|
UTSW |
10 |
11181508 |
splice site |
probably null |
|
|
R6971:Shprh
|
UTSW |
10 |
11166693 |
missense |
probably damaging |
1.00 |
|
R7158:Shprh
|
UTSW |
10 |
11166730 |
missense |
probably damaging |
0.98 |
|
R7582:Shprh
|
UTSW |
10 |
11164705 |
missense |
probably benign |
|
|
R7757:Shprh
|
UTSW |
10 |
11162180 |
missense |
probably benign |
0.30 |
|
R7812:Shprh
|
UTSW |
10 |
11151991 |
missense |
probably benign |
|
|
R7998:Shprh
|
UTSW |
10 |
11185341 |
missense |
probably damaging |
1.00 |
|
R8061:Shprh
|
UTSW |
10 |
11212333 |
missense |
possibly damaging |
0.71 |
|
R8082:Shprh
|
UTSW |
10 |
11151811 |
missense |
probably benign |
0.22 |
|
R8116:Shprh
|
UTSW |
10 |
11213461 |
missense |
probably damaging |
0.99 |
|
R8390:Shprh
|
UTSW |
10 |
11187983 |
missense |
possibly damaging |
0.92 |
|
R8445:Shprh
|
UTSW |
10 |
11181569 |
missense |
possibly damaging |
0.92 |
|
R8530:Shprh
|
UTSW |
10 |
11151934 |
missense |
probably benign |
0.37 |
|
R8759:Shprh
|
UTSW |
10 |
11157164 |
missense |
possibly damaging |
0.92 |
|
R8937:Shprh
|
UTSW |
10 |
11185437 |
missense |
possibly damaging |
0.60 |
|
R8995:Shprh
|
UTSW |
10 |
11164830 |
nonsense |
probably null |
|
|
R9053:Shprh
|
UTSW |
10 |
11154702 |
missense |
probably benign |
0.04 |
|
R9131:Shprh
|
UTSW |
10 |
11162845 |
missense |
possibly damaging |
0.58 |
|
R9176:Shprh
|
UTSW |
10 |
11160576 |
missense |
probably benign |
0.02 |
|
R9391:Shprh
|
UTSW |
10 |
11162889 |
missense |
probably benign |
0.05 |
|
R9423:Shprh
|
UTSW |
10 |
11205263 |
missense |
probably damaging |
1.00 |
|
R9563:Shprh
|
UTSW |
10 |
11166491 |
nonsense |
probably null |
|
|
R9668:Shprh
|
UTSW |
10 |
11206332 |
missense |
probably damaging |
0.97 |
|
R9709:Shprh
|
UTSW |
10 |
11162830 |
missense |
possibly damaging |
0.91 |
|
R9718:Shprh
|
UTSW |
10 |
11213504 |
missense |
probably damaging |
1.00 |
|
R9750:Shprh
|
UTSW |
10 |
11164460 |
missense |
probably damaging |
0.98 |
|
RF012:Shprh
|
UTSW |
10 |
11164841 |
missense |
probably benign |
0.02 |
|
V8831:Shprh
|
UTSW |
10 |
11186862 |
missense |
probably damaging |
1.00 |
|
Z1176:Shprh
|
UTSW |
10 |
11164553 |
missense |
probably benign |
|
|
Z1176:Shprh
|
UTSW |
10 |
11186447 |
missense |
probably damaging |
1.00 |
|
Z1177:Shprh
|
UTSW |
10 |
11151762 |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTAGAACCTTTGCTTCTCTGAAGG -3'
(R):5'- TGAACAGACTGACCCTTTCCC -3'
Sequencing Primer
(F):5'- CTGAAGGTTACAGAGAGAGGTCTTTC -3'
(R):5'- CCCTTTTTAGTTAGTAAAGCAGGC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation