Mutagenetix > Incidental Mutation

Incidental Mutation 'R9709:Shprh'

729988

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 #

R9709 (G1)

Quality Score

213.009

Status

Not validated

Chromosome

Chromosomal Location

11149427-11217595 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 11162830 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 443 (T443I)

Ref Sequence

ENSEMBL: ENSMUSP00000039422 (fasta)

Gene Model

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

AlphaFold

Q7TPQ3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044053
AA Change: T443I

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000039422
Gene: ENSMUSG00000090112
AA Change: T443I

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: T443I

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125849
Gene: ENSMUSG00000090112
AA Change: T443I

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: T443I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132870
Gene: ENSMUSG00000090112
AA Change: T443I

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

possibly damaging
Transcript: ENSMUST00000159810
AA Change: T443I

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125457
Gene: ENSMUSG00000090112
AA Change: T443I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110051M20Rik	T	C	2: 91,281,754	Q250R	probably benign	Het
1810062G17Rik	T	C	3: 36,476,207	S25P	unknown	Het
4921539E11Rik	A	G	4: 103,235,481	I268T	unknown	Het
4930507D05Rik	T	A	10: 62,449,802	C102S	unknown	Het
Abca14	T	A	7: 120,289,516	Y1228*	probably null	Het
Abca17	T	C	17: 24,298,960	I792V	probably benign	Het
Abca6	C	A	11: 110,211,763	L878F	probably benign	Het
Adk	C	A	14: 21,076,318	T4N	probably benign	Het
Atg2b	A	T	12: 105,644,881	F1264I	probably damaging	Het
Atl3	T	G	19: 7,530,556	S358A	probably benign	Het
Atp8a2	T	A	14: 60,033,738	Y248F	probably damaging	Het
Bcas3	T	C	11: 85,583,923	V785A	probably damaging	Het
Cckar	C	T	5: 53,702,859		probably null	Het
Cdc42se2	A	G	11: 54,723,591	F47L	probably benign	Het
Cfap58	T	C	19: 47,975,553	L540P	probably damaging	Het
Copg1	A	G	6: 87,891,975	E117G	probably benign	Het
Cul2	C	T	18: 3,431,560	T655M	probably damaging	Het
Ddi2	T	C	4: 141,685,118	Q161R	probably benign	Het
Dffb	T	C	4: 153,974,664	Y52C	probably damaging	Het
Dll1	T	C	17: 15,370,936	Q249R	probably benign	Het
Dnmt3a	T	A	12: 3,907,701	I894N	probably damaging	Het
Fam109b	C	G	15: 82,343,334	A18G	probably damaging	Het
Fam109b	G	T	15: 82,343,336	D19Y	probably damaging	Het
Fshr	G	A	17: 88,985,837	T471I	probably damaging	Het
Gabpb1	C	T	2: 126,658,568	V4I	probably benign	Het
Gbp9	T	C	5: 105,083,676	Q348R	probably damaging	Het
Gm14124	T	A	2: 150,268,385	C332S	possibly damaging	Het
Gm21149	G	A	5: 15,472,112	S248F	unknown	Het
Gm21885	G	A	11: 94,284,734	S65N	probably benign	Het
Gpr152	C	A	19: 4,142,641	H60Q	probably benign	Het
Hdac9	A	G	12: 34,312,603	S612P	probably benign	Het
Hhipl2	A	G	1: 183,418,816	D102G	possibly damaging	Het
Hspa9	A	G	18: 34,940,241	V530A	possibly damaging	Het
Igfbp7	T	C	5: 77,401,537	N173S	unknown	Het
Ighv1-75	A	G	12: 115,834,171	S44P	possibly damaging	Het
Iqgap3	C	A	3: 88,108,869	F986L	probably damaging	Het
Itgax	G	T	7: 128,136,328	G523W	probably damaging	Het
Itih3	A	G	14: 30,915,630		probably null	Het
Kcnb2	T	C	1: 15,710,299	I465T	probably benign	Het
Kmt2b	A	G	7: 30,579,803	V1478A	probably damaging	Het
Ky	A	T	9: 102,542,212	I473F	probably damaging	Het
Lbr	A	G	1: 181,838,469	V25A	probably damaging	Het
Ldlr	A	G	9: 21,745,839	T751A	probably benign	Het
Lrrtm4	A	G	6: 80,809,173	E587G	probably damaging	Het
Lvrn	A	C	18: 46,873,780		probably null	Het
Mast2	A	T	4: 116,315,847	C594S	probably damaging	Het
Mast4	A	G	13: 102,774,203	V644A	probably damaging	Het
Mcm5	T	C	8: 75,115,976	Y293H	probably damaging	Het
Mthfd2	A	T	6: 83,306,683	V339E	possibly damaging	Het
Muc4	A	T	16: 32,770,270	I881F		Het
Myo7a	A	G	7: 98,094,329	S372P	possibly damaging	Het
Nbea	T	A	3: 55,786,458	K2180*	probably null	Het
Neb	T	C	2: 52,211,495	D4621G	probably damaging	Het
Nefh	C	T	11: 4,940,042	S859N	probably benign	Het
Nek2	T	A	1: 191,831,177	H384Q	possibly damaging	Het
Nfkb2	A	G	19: 46,310,343	E645G	probably benign	Het
Nin	G	T	12: 70,102,694	P47Q		Het
Nit1	C	A	1: 171,343,739	K178N	probably benign	Het
Nrap	C	A	19: 56,329,020	K1433N	probably damaging	Het
Nrap	T	C	19: 56,329,021	K1433R	probably benign	Het
Nup85	A	G	11: 115,566,637	Y55C	possibly damaging	Het
Olfr237-ps1	G	T	6: 43,153,535	V77F	possibly damaging	Het
Pde1b	A	G	15: 103,503,558	K29E	probably benign	Het
Pik3cg	A	T	12: 32,176,688	Y1067N	probably benign	Het
Pkd1l1	C	T	11: 8,849,016	G2249S	probably damaging	Het
Plppr4	T	A	3: 117,328,327	T201S	possibly damaging	Het
Polr1e	A	G	4: 45,018,678	T3A	probably benign	Het
Pou6f2	G	T	13: 18,239,804	Q129K	unknown	Het
Ppil4	T	A	10: 7,799,577	D163E	probably benign	Het
Pradc1	A	G	6: 85,447,970	F82L	probably benign	Het
Psd3	T	C	8: 67,741,762	K784R	probably null	Het
Ptgs1	C	A	2: 36,251,192	S550R	probably damaging	Het
Pxylp1	A	G	9: 96,828,977	L153P	probably damaging	Het
Rgs10	A	C	7: 128,374,005	F146C	probably damaging	Het
Rimbp2	G	A	5: 128,797,811	P239S	probably damaging	Het
Rp1	A	G	1: 4,042,032	Y1199H	unknown	Het
Rrp12	A	T	19: 41,868,792	M1181K	probably benign	Het
Rundc3b	T	C	5: 8,520,982	N279S	probably benign	Het
Sbf2	G	T	7: 110,428,307	P494Q	probably damaging	Het
Scnn1b	A	G	7: 121,910,470	T281A	probably benign	Het
Scube2	A	T	7: 109,831,764	N409K	probably damaging	Het
Serpina3m	A	C	12: 104,392,749	D340A	probably damaging	Het
Sez6	G	A	11: 77,974,295	E623K	possibly damaging	Het
Sgpp2	T	C	1: 78,390,563	I111T	probably benign	Het
Sis	T	A	3: 72,891,741	Y1726F	possibly damaging	Het
Slc17a9	T	C	2: 180,732,528	L129P	probably damaging	Het
Slc1a5	T	A	7: 16,793,804	F342I	probably benign	Het
Slc4a4	T	A	5: 89,040,346		probably null	Het
Slco3a1	T	C	7: 74,303,209	E534G	possibly damaging	Het
Smok2b	A	T	17: 13,235,165	I71F	possibly damaging	Het
Tmbim7	A	T	5: 3,661,809	H18L	probably damaging	Het
Tmem151a	A	T	19: 5,081,848	Y443*	probably null	Het
Tnks1bp1	T	G	2: 85,071,781	S1674A	probably benign	Het
Trappc11	T	A	8: 47,493,313	I1095F	probably damaging	Het
Trim11	A	G	11: 58,982,038	R183G	possibly damaging	Het
Trim29	A	G	9: 43,320,500	D348G	probably benign	Het
Ttc28	A	T	5: 111,285,771	S2224C	probably damaging	Het
Vps13d	C	T	4: 145,149,345	V1537M		Het
Zfp184	A	G	13: 21,959,495	D457G	possibly damaging	Het
Znrd1as	A	T	17: 36,964,357	R7S	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
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
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'- GGAATCGTAGCATAACATGTACTAG -3'
(R):5'- GAGAAACCATGGCCTTTGATCTG -3'

Sequencing Primer
(F):5'- TTGTGTCATCAAATTAACAATTAGCC -3'
(R):5'- ATGGCCTTTGATCTGTTTCACAAGAC -3'

Posted On

2022-10-06