Mutagenetix > Incidental Mutation

Incidental Mutation 'R9176:Shprh'

696688

Institutional Source

Beutler Lab

Gene Symbol

Shprh

Ensembl Gene

ENSMUSG00000090112

Gene Name

SNF2 histone linker PHD RING helicase

Synonyms

2610103K11Rik, D230017O13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9176 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11149427-11217595 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11160576 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 386 (T386A)

Ref Sequence

ENSEMBL: ENSMUSP00000039422 (fasta)

Gene Model

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

AlphaFold

Q7TPQ3

Predicted Effect

probably benign
Transcript: ENSMUST00000044053
AA Change: T386A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000039422
Gene: ENSMUSG00000090112
AA Change: T386A

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 benign
Transcript: ENSMUST00000054814
AA Change: T386A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000125849
Gene: ENSMUSG00000090112
AA Change: T386A

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 benign
Transcript: ENSMUST00000159541
AA Change: T386A

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000132870
Gene: ENSMUSG00000090112
AA Change: T386A

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

probably damaging
Transcript: ENSMUST00000159810
AA Change: T386A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125457
Gene: ENSMUSG00000090112
AA Change: T386A

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

0.0720

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	T	C	5: 146,184,194	D119G	probably damaging	Het
1700123K08Rik	T	C	5: 138,562,893	D169G	probably damaging	Het
4932438A13Rik	T	A	3: 36,956,703	V1750E	possibly damaging	Het
Abcd2	T	G	15: 91,191,420	R63S	probably benign	Het
Ankrd55	T	C	13: 112,323,076	V68A	possibly damaging	Het
Avil	T	C	10: 127,016,379	Y678H	probably damaging	Het
Cd300ld2	C	A	11: 115,013,946	E32*	probably null	Het
Chuk	A	T	19: 44,088,003	L423Q	probably damaging	Het
Cisd3	A	G	11: 97,688,301	T90A	probably damaging	Het
Cmpk2	T	A	12: 26,474,028	S275T	probably benign	Het
Cntnap5c	T	A	17: 58,313,735	N936K	probably damaging	Het
Col15a1	G	C	4: 47,288,200		probably benign	Het
Col4a4	G	T	1: 82,485,628	P1047Q	unknown	Het
Col6a4	A	G	9: 106,061,556	L1321P	probably damaging	Het
Crat	A	G	2: 30,407,880	F211L	probably damaging	Het
Csmd3	T	C	15: 48,001,541	Q27R		Het
Dapk1	T	C	13: 60,718,448	V205A	probably damaging	Het
Ddx20	T	C	3: 105,678,842	N729S	probably benign	Het
Derl2	A	G	11: 71,013,550	V139A	possibly damaging	Het
Dscam	C	T	16: 96,685,353	D1041N	probably benign	Het
Fam160a2	A	C	7: 105,381,378	H180Q	probably benign	Het
Fam160b2	T	C	14: 70,589,100	K183E	probably benign	Het
Fbxo2	A	T	4: 148,165,690	R226W	probably damaging	Het
Gm4070	T	C	7: 105,902,055	K597E	possibly damaging	Het
Gpr19	A	G	6: 134,869,755	S322P	probably damaging	Het
Herc6	A	G	6: 57,659,678	N793S	probably benign	Het
Ikbke	A	T	1: 131,263,288	S563T	probably benign	Het
Il1r2	T	C	1: 40,105,318	L55P	probably damaging	Het
Klhl8	C	A	5: 103,864,245	A575S	probably benign	Het
Lims1	T	G	10: 58,418,443	C340G	probably damaging	Het
Loxl3	G	A	6: 83,049,311	C460Y	probably damaging	Het
Mapk9	T	A	11: 49,872,738	L152*	probably null	Het
Mef2d	T	C	3: 88,159,156	V144A	possibly damaging	Het
Mertk	A	G	2: 128,778,972	D578G	possibly damaging	Het
Mettl1	C	A	10: 127,045,381	Q254K	probably benign	Het
Naip2	T	C	13: 100,162,199	E443G	probably damaging	Het
Ndor1	A	G	2: 25,248,229	F484L	probably damaging	Het
Neurl1b	C	T	17: 26,441,081	T425I	possibly damaging	Het
Nomo1	G	A	7: 46,081,404	V1104M	possibly damaging	Het
Olfr1257	T	C	2: 89,881,171	V115A	probably benign	Het
Olfr1340	T	A	4: 118,726,653	Y135*	probably null	Het
Olfr1443	A	G	19: 12,680,236	M43V	probably benign	Het
Olfr1501	A	G	19: 13,838,432	V247A	probably damaging	Het
Olfr44	T	A	9: 39,484,951	M98L	probably benign	Het
Olfr480	A	G	7: 108,066,039	V223A	probably benign	Het
Olfr525	G	T	7: 140,323,208	G170C	probably damaging	Het
Parp4	A	G	14: 56,635,817	K1173E	possibly damaging	Het
Phkb	T	A	8: 85,970,994	N477K	probably damaging	Het
Plekha7	T	G	7: 116,140,691	I812L	possibly damaging	Het
Plxnb1	A	G	9: 109,112,583	T1711A	probably damaging	Het
Polg	A	G	7: 79,460,109	V382A	probably benign	Het
Pomt2	T	A	12: 87,147,677		probably benign	Het
Prdm1	T	C	10: 44,440,127	H671R	probably damaging	Het
Prkca	G	A	11: 107,979,418	R15C	possibly damaging	Het
Prkch	T	A	12: 73,700,194	N282K	probably damaging	Het
Ptpn6	T	C	6: 124,725,286	R385G	probably benign	Het
Rad21	A	T	15: 51,978,059	M87K	probably damaging	Het
Safb2	ACTTCTTCT	ACTTCT	17: 56,571,292		probably benign	Het
Scn1a	A	T	2: 66,273,345	V1857E	probably damaging	Het
Slco1b2	T	C	6: 141,652,503	L94P	probably damaging	Het
Snx29	A	G	16: 11,418,864	N90D	probably benign	Het
Stt3a	A	T	9: 36,751,296	H222Q	probably damaging	Het
Tbc1d5	T	C	17: 50,782,335	T584A	probably benign	Het
Tktl2	T	C	8: 66,512,012	V74A	probably damaging	Het
Tpp2	A	G	1: 43,992,393	N1124D	probably null	Het
Trpv1	A	T	11: 73,239,655	T196S	probably benign	Het
Ulk4	T	C	9: 121,145,062	E968G	probably benign	Het
Zbtb8a	G	T	4: 129,360,428	T91K	probably damaging	Het
Zfp317	T	A	9: 19,647,867	V459E	probably damaging	Het
Zfp790	A	G	7: 29,829,962	T691A	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
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
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
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'- ATTCCTGTTAGGTAGGATTTGGAAC -3'
(R):5'- TCTCTGCAGTTACTTGCAGG -3'

Sequencing Primer
(F):5'- TGTTTCCTCCTAAATGAAGTTTCAG -3'
(R):5'- GGTAACCAACCCTGAATACAAGC -3'

Posted On

2022-02-07