Mutagenetix > Incidental Mutation

Incidental Mutation 'V8831:Shprh'

44621

Institutional Source

Beutler Lab

Gene Symbol

Shprh

Ensembl Gene

ENSMUSG00000090112

Gene Name

SNF2 histone linker PHD RING helicase

Synonyms

2610103K11Rik, D230017O13Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

V8831 () of strain 710

Quality Score

182

Status

Not validated

Chromosome

Chromosomal Location

11149427-11217595 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 11186862 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 1238 (D1238N)

Ref Sequence

ENSEMBL: ENSMUSP00000132870 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044053] [ENSMUST00000054814] [ENSMUST00000159541] [ENSMUST00000159810]

AlphaFold

Q7TPQ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000044053
AA Change: D1238N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039422
Gene: ENSMUSG00000090112
AA Change: D1238N

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

probably damaging
Transcript: ENSMUST00000054814
AA Change: D1238N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125849
Gene: ENSMUSG00000090112
AA Change: D1238N

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

probably damaging
Transcript: ENSMUST00000159541
AA Change: D1238N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132870
Gene: ENSMUSG00000090112
AA Change: D1238N

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

probably benign
Transcript: ENSMUST00000159810

SMART Domains

Protein: ENSMUSP00000125457
Gene: ENSMUSG00000090112

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.6%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahsa1	A	G	12: 87,269,923 (GRCm38)	N107S	probably damaging	Het
Arhgap23	A	G	11: 97,456,545 (GRCm38)	I690V	probably benign	Het
Bard1	G	A	1: 71,088,217 (GRCm38)	P78S	probably damaging	Het
Ccar1	G	A	10: 62,747,406 (GRCm38)	T976I	unknown	Het
Cdc7	T	A	5: 106,968,910 (GRCm38)	N50K	probably benign	Het
Cep85	C	T	4: 134,156,069 (GRCm38)	E170K	possibly damaging	Het
Cpsf2	C	T	12: 102,003,141 (GRCm38)	R757C	probably damaging	Het
Csmd3	A	T	15: 48,457,696 (GRCm38)	D239E	probably damaging	Het
Dnah7b	T	G	1: 46,373,298 (GRCm38)	Y4022*	probably null	Het
Elmo3	A	G	8: 105,307,061 (GRCm38)	N179S	probably benign	Het
H2-T24	T	A	17: 36,017,324 (GRCm38)	Q89L	probably damaging	Het
Hist1h2bj	G	C	13: 22,043,281 (GRCm38)		probably benign	Het
Irak4	T	C	15: 94,561,484 (GRCm38)	I327T	probably damaging	Het
Itpr2	A	T	6: 146,385,882 (GRCm38)	L157Q	probably damaging	Het
Lama1	G	A	17: 67,752,883 (GRCm38)	D656N	probably benign	Het
Lrrc72	G	T	12: 36,208,657 (GRCm38)	T67K	possibly damaging	Het
Map2	T	G	1: 66,415,845 (GRCm38)	I1298S	probably damaging	Het
Mroh2a	T	TN	1: 88,256,167 (GRCm38)		probably null	Het
Ndst1	G	A	18: 60,702,927 (GRCm38)	A428V	probably damaging	Het
Obsl1	G	A	1: 75,486,756 (GRCm38)	T1764M	probably benign	Het
Olfr1369-ps1	T	C	13: 21,116,003 (GRCm38)	Y104H	possibly damaging	Het
Olfr177	G	T	16: 58,873,075 (GRCm38)	T25K	probably benign	Het
Olfr481	C	T	7: 108,081,535 (GRCm38)	A247V	probably benign	Het
Plxna1	A	G	6: 89,357,137 (GRCm38)	V170A	probably damaging	Het
Rfx6	G	A	10: 51,718,208 (GRCm38)		probably null	Het
Slc15a2	A	G	16: 36,772,445 (GRCm38)	M179T	probably benign	Het
Slc9c1	A	T	16: 45,577,899 (GRCm38)	I676F	possibly damaging	Het
Smoc1	A	G	12: 81,168,255 (GRCm38)	D305G	probably damaging	Het
Spdef	C	T	17: 27,718,077 (GRCm38)	R184H	probably damaging	Het
Stxbp4	C	T	11: 90,480,671 (GRCm38)	A535T	probably benign	Het
Tcp11l1	C	G	2: 104,685,484 (GRCm38)	V345L	probably benign	Het
Ticam1	TC	T	17: 56,269,969 (GRCm38)	708	probably null	Het
Ttc28	A	T	5: 111,100,712 (GRCm38)	Y177F	probably benign	Het
Ugt2b34	A	T	5: 86,906,674 (GRCm38)	Y83N	probably benign	Het
Vmn2r30	G	A	7: 7,334,149 (GRCm38)	R163C	probably benign	Het
Xirp1	T	G	9: 120,016,907 (GRCm38)	Q970P	probably benign	Het

Other mutations in Shprh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Shprh	APN	10	11,188,158 (GRCm38)	missense	probably damaging	1.00
IGL00583:Shprh	APN	10	11,188,020 (GRCm38)	missense	probably benign	0.37
IGL00684:Shprh	APN	10	11,163,037 (GRCm38)	missense	probably benign	0.11
IGL01295:Shprh	APN	10	11,183,868 (GRCm38)	missense	probably damaging	0.96
IGL01387:Shprh	APN	10	11,170,254 (GRCm38)	missense	probably damaging	1.00
IGL01635:Shprh	APN	10	11,170,019 (GRCm38)	nonsense	probably null
IGL01833:Shprh	APN	10	11,191,062 (GRCm38)	missense	probably damaging	1.00
IGL02013:Shprh	APN	10	11,181,502 (GRCm38)	splice site	probably benign
IGL02502:Shprh	APN	10	11,194,357 (GRCm38)	missense	possibly damaging	0.66
IGL02819:Shprh	APN	10	11,154,765 (GRCm38)	missense	possibly damaging	0.93
PIT4581001:Shprh	UTSW	10	11,192,494 (GRCm38)	frame shift	probably null
R0010:Shprh	UTSW	10	11,151,931 (GRCm38)	missense	probably benign
R0010:Shprh	UTSW	10	11,151,931 (GRCm38)	missense	probably benign
R0053:Shprh	UTSW	10	11,194,372 (GRCm38)	splice site	probably null
R0053:Shprh	UTSW	10	11,194,372 (GRCm38)	splice site	probably null
R0255:Shprh	UTSW	10	11,186,391 (GRCm38)	missense	possibly damaging	0.92
R0325:Shprh	UTSW	10	11,170,109 (GRCm38)	missense	probably benign	0.00
R0331:Shprh	UTSW	10	11,194,170 (GRCm38)	splice site	probably benign
R0494:Shprh	UTSW	10	11,157,191 (GRCm38)	missense	probably damaging	1.00
R0532:Shprh	UTSW	10	11,162,812 (GRCm38)	missense	possibly damaging	0.90
R0546:Shprh	UTSW	10	11,183,887 (GRCm38)	splice site	probably benign
R0574:Shprh	UTSW	10	11,163,077 (GRCm38)	unclassified	probably benign
R0605:Shprh	UTSW	10	11,207,112 (GRCm38)	missense	probably damaging	1.00
R0662:Shprh	UTSW	10	11,186,847 (GRCm38)	missense	probably damaging	1.00
R1148:Shprh	UTSW	10	11,213,482 (GRCm38)	missense	possibly damaging	0.95
R1148:Shprh	UTSW	10	11,213,482 (GRCm38)	missense	possibly damaging	0.95
R1263:Shprh	UTSW	10	11,159,530 (GRCm38)	missense	probably damaging	1.00
R1588:Shprh	UTSW	10	11,164,744 (GRCm38)	missense	probably damaging	1.00
R1638:Shprh	UTSW	10	11,157,078 (GRCm38)	missense	probably benign
R1830:Shprh	UTSW	10	11,186,911 (GRCm38)	splice site	probably null
R1898:Shprh	UTSW	10	11,186,869 (GRCm38)	missense	probably damaging	1.00
R1903:Shprh	UTSW	10	11,183,797 (GRCm38)	nonsense	probably null
R2060:Shprh	UTSW	10	11,152,120 (GRCm38)	missense	probably benign	0.03
R2225:Shprh	UTSW	10	11,162,235 (GRCm38)	unclassified	probably benign
R2363:Shprh	UTSW	10	11,171,953 (GRCm38)	missense	probably damaging	1.00
R2509:Shprh	UTSW	10	11,166,724 (GRCm38)	missense	probably damaging	1.00
R2891:Shprh	UTSW	10	11,164,356 (GRCm38)	missense	probably damaging	1.00
R3077:Shprh	UTSW	10	11,170,413 (GRCm38)	missense	probably damaging	1.00
R3150:Shprh	UTSW	10	11,170,030 (GRCm38)	missense	probably damaging	0.97
R3796:Shprh	UTSW	10	11,178,757 (GRCm38)	missense	possibly damaging	0.89
R4196:Shprh	UTSW	10	11,207,860 (GRCm38)	utr 3 prime	probably benign
R4423:Shprh	UTSW	10	11,186,518 (GRCm38)	missense	possibly damaging	0.82
R4488:Shprh	UTSW	10	11,160,471 (GRCm38)	missense	probably benign	0.17
R4748:Shprh	UTSW	10	11,170,476 (GRCm38)	missense	probably damaging	1.00
R4768:Shprh	UTSW	10	11,181,540 (GRCm38)	missense	probably damaging	0.96
R4867:Shprh	UTSW	10	11,164,557 (GRCm38)	missense	probably benign	0.00
R4937:Shprh	UTSW	10	11,157,119 (GRCm38)	missense	probably benign
R5140:Shprh	UTSW	10	11,154,705 (GRCm38)	missense	probably benign	0.03
R5318:Shprh	UTSW	10	11,166,557 (GRCm38)	missense	probably benign	0.04
R5323:Shprh	UTSW	10	11,170,297 (GRCm38)	splice site	probably null
R5450:Shprh	UTSW	10	11,212,330 (GRCm38)	missense	possibly damaging	0.70
R5872:Shprh	UTSW	10	11,188,073 (GRCm38)	missense	probably damaging	1.00
R6030:Shprh	UTSW	10	11,151,991 (GRCm38)	missense	probably benign	0.37
R6030:Shprh	UTSW	10	11,151,991 (GRCm38)	missense	probably benign	0.37
R6392:Shprh	UTSW	10	11,178,741 (GRCm38)	nonsense	probably null
R6416:Shprh	UTSW	10	11,167,873 (GRCm38)	missense	probably damaging	1.00
R6470:Shprh	UTSW	10	11,171,937 (GRCm38)	missense	probably damaging	0.98
R6513:Shprh	UTSW	10	11,186,893 (GRCm38)	missense	probably damaging	1.00
R6530:Shprh	UTSW	10	11,194,267 (GRCm38)	missense	probably benign	0.02
R6678:Shprh	UTSW	10	11,166,545 (GRCm38)	missense	probably benign	0.16
R6757:Shprh	UTSW	10	11,181,508 (GRCm38)	splice site	probably null
R6971:Shprh	UTSW	10	11,166,693 (GRCm38)	missense	probably damaging	1.00
R7158:Shprh	UTSW	10	11,166,730 (GRCm38)	missense	probably damaging	0.98
R7582:Shprh	UTSW	10	11,164,705 (GRCm38)	missense	probably benign
R7757:Shprh	UTSW	10	11,162,180 (GRCm38)	missense	probably benign	0.30
R7812:Shprh	UTSW	10	11,151,991 (GRCm38)	missense	probably benign
R7998:Shprh	UTSW	10	11,185,341 (GRCm38)	missense	probably damaging	1.00
R8061:Shprh	UTSW	10	11,212,333 (GRCm38)	missense	possibly damaging	0.71
R8082:Shprh	UTSW	10	11,151,811 (GRCm38)	missense	probably benign	0.22
R8116:Shprh	UTSW	10	11,213,461 (GRCm38)	missense	probably damaging	0.99
R8390:Shprh	UTSW	10	11,187,983 (GRCm38)	missense	possibly damaging	0.92
R8445:Shprh	UTSW	10	11,181,569 (GRCm38)	missense	possibly damaging	0.92
R8530:Shprh	UTSW	10	11,151,934 (GRCm38)	missense	probably benign	0.37
R8759:Shprh	UTSW	10	11,157,164 (GRCm38)	missense	possibly damaging	0.92
R8937:Shprh	UTSW	10	11,185,437 (GRCm38)	missense	possibly damaging	0.60
R8995:Shprh	UTSW	10	11,164,830 (GRCm38)	nonsense	probably null
R9053:Shprh	UTSW	10	11,154,702 (GRCm38)	missense	probably benign	0.04
R9131:Shprh	UTSW	10	11,162,845 (GRCm38)	missense	possibly damaging	0.58
R9176:Shprh	UTSW	10	11,160,576 (GRCm38)	missense	probably benign	0.02
R9391:Shprh	UTSW	10	11,162,889 (GRCm38)	missense	probably benign	0.05
R9423:Shprh	UTSW	10	11,205,263 (GRCm38)	missense	probably damaging	1.00
R9563:Shprh	UTSW	10	11,166,491 (GRCm38)	nonsense	probably null
R9668:Shprh	UTSW	10	11,206,332 (GRCm38)	missense	probably damaging	0.97
R9709:Shprh	UTSW	10	11,162,830 (GRCm38)	missense	possibly damaging	0.91
R9718:Shprh	UTSW	10	11,213,504 (GRCm38)	missense	probably damaging	1.00
R9750:Shprh	UTSW	10	11,164,460 (GRCm38)	missense	probably damaging	0.98
RF012:Shprh	UTSW	10	11,164,841 (GRCm38)	missense	probably benign	0.02
Z1176:Shprh	UTSW	10	11,186,447 (GRCm38)	missense	probably damaging	1.00
Z1176:Shprh	UTSW	10	11,164,553 (GRCm38)	missense	probably benign
Z1177:Shprh	UTSW	10	11,151,762 (GRCm38)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGAGTCTGCAACAGTTTGCCACC -3'
(R):5'- AATTTGCTCTTGACAGTGTTCAGGGAT -3'

Sequencing Primer
(F):5'- CCGCATGATCTCAGAAATGGTTG -3'
(R):5'- TGGGCATGTTAAATCCCAAAGG -3'

Posted On

2013-06-11