Mutagenetix > Incidental Mutation

Incidental Mutation 'R9563:Shprh'

721250

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 #

R9563 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11149427-11217595 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 11166491 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 739 (Y739*)

Ref Sequence

ENSEMBL: ENSMUSP00000039422 (fasta)

Gene Model

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

AlphaFold

Q7TPQ3

Predicted Effect

probably null
Transcript: ENSMUST00000044053
AA Change: Y739*

SMART Domains

Protein: ENSMUSP00000039422
Gene: ENSMUSG00000090112
AA Change: Y739*

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 null
Transcript: ENSMUST00000054814
AA Change: Y739*

SMART Domains

Protein: ENSMUSP00000125849
Gene: ENSMUSG00000090112
AA Change: Y739*

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 null
Transcript: ENSMUST00000159541
AA Change: Y739*

SMART Domains

Protein: ENSMUSP00000132870
Gene: ENSMUSG00000090112
AA Change: Y739*

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 null
Transcript: ENSMUST00000159810
AA Change: Y739*

SMART Domains

Protein: ENSMUSP00000125457
Gene: ENSMUSG00000090112
AA Change: Y739*

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: 99.6%
20x: 98.9%

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: 127 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	G	15: 8,187,079	L594V	probably benign	Het
9130409I23Rik	G	T	1: 181,055,245	V191F	possibly damaging	Het
A2m	T	A	6: 121,668,050	D953E	probably damaging	Het
Acod1	A	C	14: 103,049,673	Y80S	probably damaging	Het
Actr5	A	G	2: 158,628,215	D255G	probably damaging	Het
Akna	A	G	4: 63,394,707	V393A	probably damaging	Het
Amotl1	T	C	9: 14,562,217	K562R	possibly damaging	Het
Amz1	T	A	5: 140,752,378	D464E	probably damaging	Het
Anapc1	G	A	2: 128,664,060	Q619*	probably null	Het
Arfgef3	C	T	10: 18,646,527	G584R	probably damaging	Het
Armt1	AC	A	10: 4,450,848		probably null	Het
Atr	G	C	9: 95,920,780	V1832L	probably damaging	Het
Bsn	T	C	9: 108,107,417	D374G		Het
Cap1	A	G	4: 122,864,712	V225A	probably benign	Het
Cc2d1a	A	G	8: 84,137,129	S562P	probably benign	Het
Ccdc30	T	C	4: 119,393,624	N141S	possibly damaging	Het
Cdc42bpb	A	G	12: 111,299,328	V1390A	possibly damaging	Het
Cdc42ep1	A	T	15: 78,849,582	H294L	probably benign	Het
Col6a6	C	A	9: 105,695,753	G2185C	probably benign	Het
Col7a1	T	C	9: 108,962,741	V1232A	unknown	Het
Copb1	A	G	7: 114,236,799	I449T	possibly damaging	Het
Ctdsp2	A	G	10: 126,996,171	D216G	probably damaging	Het
Cttnbp2	T	A	6: 18,367,383	K1645N	probably benign	Het
Cttnbp2	A	T	6: 18,427,468	L738*	probably null	Het
Cul9	T	A	17: 46,509,971	T1927S	probably benign	Het
Cyfip2	A	G	11: 46,260,880	C531R	probably benign	Het
Cyp2j6	A	G	4: 96,526,008	I340T	probably damaging	Het
Daam1	A	G	12: 71,945,477	E322G	unknown	Het
Dab2ip	T	A	2: 35,719,903	L710*	probably null	Het
Dph1	T	C	11: 75,185,999	T60A	possibly damaging	Het
Eme1	T	C	11: 94,650,513	D161G	probably benign	Het
Epha3	C	T	16: 63,546,147	G980D	possibly damaging	Het
Eri3	T	A	4: 117,564,816	V136E	probably benign	Het
Espl1	T	A	15: 102,319,798	I1669N	possibly damaging	Het
Exoc6	T	C	19: 37,599,623	I568T	probably damaging	Het
F3	T	A	3: 121,734,173	L85H		Het
Fam186b	G	A	15: 99,279,735	A570V	probably damaging	Het
Fam212a	T	A	9: 107,984,289	Y276F	probably benign	Het
Fbxw14	T	C	9: 109,277,267	Y234C	probably benign	Het
Fbxw25	T	A	9: 109,654,608	N179Y		Het
Foxr1	T	A	9: 44,440,902		probably benign	Het
Gas8	T	A	8: 123,536,440	V452E	possibly damaging	Het
Gdpd4	T	C	7: 98,000,162	V450A	probably damaging	Het
Gm17359	A	T	3: 79,449,309	M140L	probably benign	Het
Greb1	T	C	12: 16,724,823	Y191C	probably benign	Het
Haus3	G	A	5: 34,167,956	R120W	probably benign	Het
Herc1	G	T	9: 66,386,911		probably null	Het
Hist1h3i	T	C	13: 21,783,051	D107G	probably damaging	Het
Hyal2	T	C	9: 107,570,645	W166R	probably damaging	Het
Itga7	C	T	10: 128,953,800	A1003V	probably damaging	Het
Itga8	T	A	2: 12,160,408	I797F	possibly damaging	Het
Kank2	T	C	9: 21,794,556	T389A	possibly damaging	Het
Kcnb2	T	A	1: 15,709,513	I203N	probably damaging	Het
Kif21b	T	A	1: 136,149,428	L396Q	probably damaging	Het
Kng1	T	G	16: 23,060,420	I78S	probably damaging	Het
Ldlrad4	T	C	18: 68,254,480	S288P	probably benign	Het
Lmntd2	A	G	7: 141,210,788	S516P		Het
Lrp1b	T	A	2: 41,295,699	I1449F		Het
Lrrk2	T	A	15: 91,749,840	I1380K	possibly damaging	Het
Lvrn	T	G	18: 46,884,439	I612S	probably damaging	Het
Lyst	T	C	13: 13,637,823	L940P	probably benign	Het
Man2a2	T	A	7: 80,356,353	M996L	probably benign	Het
Map3k3	T	A	11: 106,151,034	I413N	probably damaging	Het
Map4k5	A	G	12: 69,816,393	V629A	probably benign	Het
Mapre2	A	G	18: 23,890,924	E325G	unknown	Het
Mbnl1	A	G	3: 60,613,294	N101S	probably benign	Het
Meltf	T	A	16: 31,885,051	C199S	probably damaging	Het
Mmab	T	C	5: 114,436,789	E141G	probably benign	Het
Mtus2	T	C	5: 148,313,407	L1317P		Het
Muc6	T	A	7: 141,637,870	T2297S	possibly damaging	Het
Myom2	A	T	8: 15,108,399	K784*	probably null	Het
Nek1	A	G	8: 61,124,123	E1118G	probably benign	Het
Nrtn	A	G	17: 56,751,416	V195A	probably damaging	Het
Nsd3	G	A	8: 25,714,203	V420I		Het
Olfr1094	A	G	2: 86,828,754	M1V	probably null	Het
Olfr1451	T	A	19: 12,999,619	I211N	probably damaging	Het
Olfr205	T	C	16: 59,329,402	I36V	probably benign	Het
Olfr522	G	A	7: 140,162,320	T210I	probably damaging	Het
Olfr618	A	T	7: 103,598,018	Q234L	probably benign	Het
Olfr677	T	C	7: 105,057,074	L276P	possibly damaging	Het
Olfr820	T	C	10: 130,017,418	I19T	probably benign	Het
Olfr923	A	T	9: 38,827,718	H3L	probably benign	Het
Pde10a	G	T	17: 8,801,878	A216S	unknown	Het
Phldb2	T	C	16: 45,824,884	T400A	possibly damaging	Het
Pkd1l1	T	A	11: 8,865,502	T1920S		Het
Ptgs2	T	A	1: 150,105,668	N567K	probably benign	Het
Pwp1	T	A	10: 85,876,506	D141E	probably damaging	Het
Rab3ip	T	C	10: 116,918,763	E296G	probably null	Het
Rb1cc1	A	G	1: 6,244,115	K337R	probably benign	Het
Rbp3	A	G	14: 33,955,520	D475G	probably damaging	Het
Ric3	T	C	7: 109,038,790	E253G	possibly damaging	Het
Rictor	A	T	15: 6,768,081	N306I	possibly damaging	Het
Rnf214	A	T	9: 45,899,843	V174E	possibly damaging	Het
Robo3	A	G	9: 37,429,604	F124S	probably damaging	Het
Rrad	A	G	8: 104,628,692	F228S	probably damaging	Het
Scn3a	A	T	2: 65,461,251	M1717K	probably damaging	Het
Scn3b	A	G	9: 40,282,433	D152G	probably benign	Het
Scn5a	C	A	9: 119,486,737	R1635L	probably damaging	Het
Sec61b	A	G	4: 47,483,049	Y93C	probably damaging	Het
Skor2	C	T	18: 76,858,681	H33Y	unknown	Het
Slc26a7	T	C	4: 14,519,496	N508S	probably benign	Het
Slc7a12	A	G	3: 14,499,300	I349V	possibly damaging	Het
Slit1	T	C	19: 41,608,435	Y1075C	probably damaging	Het
Sltm	C	T	9: 70,573,559	A231V	unknown	Het
Smg1	A	G	7: 118,212,985	S52P	unknown	Het
Soga1	G	A	2: 157,060,262	R278C	probably damaging	Het
Sorl1	A	G	9: 42,046,597	Y584H	probably damaging	Het
Ssbp1	T	A	6: 40,478,034	S142R	probably benign	Het
Stard3	A	G	11: 98,379,971		probably null	Het
Strn3	G	T	12: 51,627,517	H531N	possibly damaging	Het
Stx17	A	G	4: 48,180,739	T195A	probably damaging	Het
Tekt2	C	T	4: 126,323,651	R207H	probably damaging	Het
Tmed5	A	C	5: 108,132,234		probably null	Het
Tmem132a	C	T	19: 10,861,596	R494H	probably benign	Het
Tom1	A	G	8: 75,060,549	K406E	probably benign	Het
Trav5d-4	A	T	14: 53,002,016	N43Y	probably damaging	Het
Trbv19	G	T	6: 41,179,011	K105N	possibly damaging	Het
Trim34a	C	T	7: 104,261,121	Q377*	probably null	Het
Trp53bp2	T	A	1: 182,448,813	N786K	probably benign	Het
Trpc3	A	G	3: 36,651,534	M504T	probably benign	Het
Ttc28	A	T	5: 111,223,226	M545L	probably benign	Het
Uggt1	A	C	1: 36,165,546	V996G	possibly damaging	Het
Vmn2r65	G	A	7: 84,940,672	Q679*	probably null	Het
Wdfy4	T	C	14: 32,970,876	I2958V		Het
Zbtb37	C	T	1: 161,020,270	S389N	possibly damaging	Het
Zfp235	T	C	7: 24,142,244	V696A	possibly damaging	Het
Zzef1	T	A	11: 72,874,906	C1420S	probably damaging	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
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'- AGTGCTGTCACAATTGCTCTG -3'
(R):5'- ATGGCCATATAGCGCTTCTGG -3'

Sequencing Primer
(F):5'- TATGTCACTTGGCTCCCACACTAAAG -3'
(R):5'- ATATAGCGCTTCTGGTTCCTCAGG -3'

Posted On

2022-08-09