Mutagenetix > Incidental Mutations

Incidental Mutation 'R0532:Shprh'

49263

Institutional Source

Beutler Lab

Gene Symbol

Shprh

Ensembl Gene

ENSMUSG00000090112

Gene Name

SNF2 histone linker PHD RING helicase

Synonyms

2610103K11Rik, D230017O13Rik

MMRRC Submission

038724-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0532 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11149427-11217595 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 11162812 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 437 (T437K)

Ref Sequence

ENSEMBL: ENSMUSP00000125457 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044053] [ENSMUST00000054814] [ENSMUST00000159541] [ENSMUST00000159810] [ENSMUST00000160461]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044053
AA Change: T437K

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000039422
Gene: ENSMUSG00000090112
AA Change: T437K

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: T437K

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125849
Gene: ENSMUSG00000090112
AA Change: T437K

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: T437K

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132870
Gene: ENSMUSG00000090112
AA Change: T437K

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: T437K

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125457
Gene: ENSMUSG00000090112
AA Change: T437K

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 benign
Transcript: ENSMUST00000160461

SMART Domains

Protein: ENSMUSP00000125127
Gene: ENSMUSG00000090112

Domain	Start	End	E-Value	Type
PHD	131	178	2.33e-5	SMART

Meta Mutation Damage Score

0.1416

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

100% (90/90)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	A	T	18: 6,638,618	E339V	possibly damaging	Het
9230009I02Rik	A	T	11: 51,091,578		noncoding transcript	Het
9230112D13Rik	A	T	14: 34,512,097	I79K	unknown	Het
Adam25	C	T	8: 40,755,950	T751I	probably benign	Het
Adgrv1	C	A	13: 81,578,896	V446L	probably damaging	Het
Afap1	C	A	5: 35,968,600	A313D	possibly damaging	Het
Akap6	A	G	12: 52,887,983	T753A	probably benign	Het
Aldh16a1	G	T	7: 45,142,838	T730N	probably damaging	Het
Amfr	A	T	8: 93,999,108	M215K	probably damaging	Het
Apob	A	G	12: 8,016,188	R4386G	possibly damaging	Het
Arhgap45	A	T	10: 80,022,083	M217L	possibly damaging	Het
Baiap2l2	C	T	15: 79,284,076	E49K	possibly damaging	Het
Baz1a	C	T	12: 54,934,820	E350K	possibly damaging	Het
Bbx	A	T	16: 50,266,284	V83D	probably damaging	Het
Btaf1	T	C	19: 36,951,186		probably benign	Het
Cacna2d1	G	A	5: 16,362,273	E942K	probably benign	Het
Cad	T	C	5: 31,062,187		probably benign	Het
Ccdc96	A	G	5: 36,486,366	K572R	probably benign	Het
Cdc5l	G	A	17: 45,415,684	R321W	probably damaging	Het
Cep164	G	A	9: 45,809,826	R93*	probably null	Het
Cir1	A	G	2: 73,310,455		probably null	Het
Crocc	A	G	4: 141,030,247	S912P	possibly damaging	Het
Cwf19l2	T	C	9: 3,431,057	L463P	probably benign	Het
Cyp3a59	C	T	5: 146,096,653	Q200*	probably null	Het
Cyp4b1	G	T	4: 115,626,876	P303T	probably damaging	Het
Dcbld1	C	A	10: 52,317,077	T306K	probably benign	Het
Dgat2	A	G	7: 99,169,781	V56A	possibly damaging	Het
Dnajc16	A	C	4: 141,789,009	L16R	probably damaging	Het
Dnmt1	A	C	9: 20,918,556		probably benign	Het
Dus3l	A	G	17: 56,769,308	I528V	probably damaging	Het
Egflam	T	C	15: 7,234,237	D744G	probably benign	Het
Epb41	A	C	4: 131,978,795		probably benign	Het
Eri2	C	T	7: 119,785,983	V432I	probably benign	Het
Esyt2	A	G	12: 116,357,198		probably benign	Het
Extl3	A	T	14: 65,077,673	M20K	probably benign	Het
Fam32a	A	G	8: 72,222,219	Y103C	probably damaging	Het
Fat4	T	C	3: 38,981,721	V3174A	probably benign	Het
Fbxo40	T	A	16: 36,969,622	E375D	possibly damaging	Het
Frrs1	A	G	3: 116,883,164	T182A	probably benign	Het
Fry	A	G	5: 150,433,707		probably benign	Het
Fry	T	C	5: 150,478,761		probably benign	Het
Fsip2	A	G	2: 82,977,785	I1483V	probably benign	Het
Glra3	T	A	8: 56,125,076	D389E	probably benign	Het
Gpr3	A	T	4: 133,210,485	I292N	probably damaging	Het
Grina	T	C	15: 76,248,845	M230T	probably damaging	Het
Igkv11-125	G	A	6: 67,913,619	W16*	probably null	Het
Il18r1	T	C	1: 40,474,901	V89A	probably damaging	Het
Ino80	T	C	2: 119,381,983	E1286G	possibly damaging	Het
Iqch	G	A	9: 63,508,232		probably benign	Het
Itpr2	G	T	6: 146,112,400	Q2666K	probably damaging	Het
Kcnh3	A	G	15: 99,232,963	D487G	probably damaging	Het
Kdm1a	A	G	4: 136,561,066	L402P	probably damaging	Het
Klhl10	T	G	11: 100,447,111		probably benign	Het
Krt39	T	C	11: 99,514,791	T428A	possibly damaging	Het
Mapk3	G	A	7: 126,763,386		probably benign	Het
Med13l	T	A	5: 118,759,123	S2089T	possibly damaging	Het
Mex3c	G	A	18: 73,590,053	D406N	possibly damaging	Het
Mki67	G	A	7: 135,698,164	R1714*	probably null	Het
Mmp9	C	A	2: 164,949,820	S211*	probably null	Het
Nat8f2	G	T	6: 85,867,802	Q193K	probably benign	Het
Olfr1333	T	G	4: 118,829,700	T247P	probably damaging	Het
Olfr204	T	C	16: 59,314,601	K269E	probably benign	Het
Omt2a	C	A	9: 78,312,905	A71S	possibly damaging	Het
Pdgfra	G	A	5: 75,170,773	V315I	probably benign	Het
Pdgfrb	A	G	18: 61,083,265	D1065G	probably damaging	Het
Pfas	A	T	11: 69,002,629		probably benign	Het
Pramel5	T	C	4: 144,272,740	E259G	probably benign	Het
Prpf6	A	G	2: 181,622,211	Y222C	possibly damaging	Het
Rbck1	C	A	2: 152,324,330	Q229H	probably damaging	Het
Rdm1	T	A	11: 101,635,835	C278S	probably benign	Het
Sall1	T	C	8: 89,033,191	D95G	probably benign	Het
Scn1a	T	A	2: 66,317,823	D1126V	probably damaging	Het
Scn4a	C	T	11: 106,330,400	G811D	probably benign	Het
Sh2b1	A	G	7: 126,472,272	I247T	probably benign	Het
Slc13a4	A	T	6: 35,287,404		probably null	Het
Slc16a1	C	A	3: 104,653,418	Y346*	probably null	Het
Slc25a38	G	T	9: 120,120,706	A163S	probably damaging	Het
Slc6a12	G	A	6: 121,356,918	V238I	probably damaging	Het
Slc8b1	C	A	5: 120,519,671	D66E	probably damaging	Het
Snapin	A	G	3: 90,489,586	L106P	probably damaging	Het
Tas2r122	G	A	6: 132,711,828	S34F	possibly damaging	Het
Tiam2	A	G	17: 3,421,646	K521R	probably damaging	Het
Tmem81	C	G	1: 132,507,829	I124M	probably damaging	Het
Ttc3	T	C	16: 94,387,330		probably benign	Het
Uba1y	T	C	Y: 820,911	F31L	probably benign	Het
Ucp3	A	G	7: 100,481,979		probably benign	Het
Vcan	T	C	13: 89,703,772	E1023G	probably damaging	Het
Vmn2r45	A	G	7: 8,471,821	I736T	probably damaging	Het
Vps36	T	C	8: 22,218,245	F342L	probably benign	Het
Zc3hc1	A	G	6: 30,374,930		probably benign	Het
Zmym4	G	A	4: 126,898,401	Q596*	probably null	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
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
R2891:Shprh	UTSW	10	11164356	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
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'- AAAGAGAAAGTTCACTGCCCTCGTAAG -3'
(R):5'- TGGCCTTTGATCTGTTTCACAAGACC -3'

Sequencing Primer
(F):5'- AGAATTGGTCCCAGTACTACCTG -3'
(R):5'- GATCTGTTTCACAAGACCTTCAAAG -3'

Posted On

2013-06-12