Mutagenetix > Incidental Mutation

Incidental Mutation 'R9053:Shprh'

688520

Institutional Source

Beutler Lab

Gene Symbol

Shprh

Ensembl Gene

ENSMUSG00000090112

Gene Name

SNF2 histone linker PHD RING helicase

Synonyms

2610103K11Rik, D230017O13Rik

MMRRC Submission

068879-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9053 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11149427-11217595 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11154702 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 221 (F221S)

Ref Sequence

ENSEMBL: ENSMUSP00000039422 (fasta)

Gene Model

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

AlphaFold

Q7TPQ3

Predicted Effect

probably benign
Transcript: ENSMUST00000044053
AA Change: F221S

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000039422
Gene: ENSMUSG00000090112
AA Change: F221S

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: F221S

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000125849
Gene: ENSMUSG00000090112
AA Change: F221S

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: F221S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000132870
Gene: ENSMUSG00000090112
AA Change: F221S

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 benign
Transcript: ENSMUST00000159810
AA Change: F221S

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000125457
Gene: ENSMUSG00000090112
AA Change: F221S

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

96% (50/52)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat3	A	G	17: 12,928,515 (GRCm38)	V205A	probably damaging	Het
Acp7	A	G	7: 28,617,191 (GRCm38)	F120L	possibly damaging	Het
Adh4	T	C	3: 138,422,284 (GRCm38)	V157A	probably damaging	Het
Ahsa2	T	C	11: 23,493,314 (GRCm38)	E146G	probably benign	Het
Ank3	T	C	10: 69,986,559 (GRCm38)	S353P		Het
Apob	T	C	12: 8,008,954 (GRCm38)	S2479P	possibly damaging	Het
Arhgef37	A	G	18: 61,508,689 (GRCm38)	L203P	probably damaging	Het
Arpp21	T	A	9: 112,155,515 (GRCm38)	N265I	possibly damaging	Het
Cfap20dc	T	C	14: 8,518,768 (GRCm38)		probably null	Het
Dagla	G	A	19: 10,269,251 (GRCm38)	R162C	probably damaging	Het
Ddx18	T	C	1: 121,561,406 (GRCm38)	D304G	probably damaging	Het
Dnah3	A	T	7: 120,019,764 (GRCm38)	L1638Q	possibly damaging	Het
Dnah6	T	A	6: 73,084,657 (GRCm38)	N2815I	possibly damaging	Het
Dnajc16	T	C	4: 141,783,060 (GRCm38)	D94G	probably benign	Het
Epor	G	T	9: 21,959,359 (GRCm38)	D408E	probably benign	Het
Erbb4	T	C	1: 68,250,620 (GRCm38)	N754S	possibly damaging	Het
Etaa1	A	G	11: 17,945,798 (GRCm38)	I773T	probably benign	Het
Fat4	T	A	3: 38,887,175 (GRCm38)	Y72*	probably null	Het
Fbxw18	T	G	9: 109,688,423 (GRCm38)	D404A	probably benign	Het
Flot1	T	A	17: 35,829,967 (GRCm38)	V283E	probably damaging	Het
Gm5145	G	T	17: 20,570,932 (GRCm38)	G191W	probably damaging	Het
Gpr161	G	A	1: 165,306,597 (GRCm38)		probably benign	Het
Helz	C	A	11: 107,672,935 (GRCm38)	Q1734K	unknown	Het
Hycc1	A	G	5: 23,979,581 (GRCm38)	C300R	possibly damaging	Het
Ints1	A	G	5: 139,762,067 (GRCm38)	V1195A	possibly damaging	Het
Khdc4	T	A	3: 88,689,275 (GRCm38)	L121Q	probably damaging	Het
Kmt2a	T	A	9: 44,821,419 (GRCm38)	T2534S	unknown	Het
Lingo3	T	C	10: 80,834,987 (GRCm38)	N370D	probably benign	Het
Lrp1b	A	G	2: 40,858,489 (GRCm38)	V3113A		Het
Mthfs	C	T	9: 89,215,401 (GRCm38)	L104F	probably damaging	Het
Nlgn1	A	T	3: 25,434,443 (GRCm38)	V576D	probably damaging	Het
Nlrc5	A	G	8: 94,490,385 (GRCm38)	R1001G	probably benign	Het
Obscn	C	T	11: 59,081,810 (GRCm38)	A2137T	probably benign	Het
Ociad1	T	A	5: 73,303,608 (GRCm38)	H70Q	probably damaging	Het
Opa1	T	A	16: 29,586,018 (GRCm38)	C11*	probably null	Het
Or4a76	A	G	2: 89,630,817 (GRCm38)	V27A	probably benign	Het
Parp10	T	C	15: 76,241,764 (GRCm38)	E408G	possibly damaging	Het
Pcdhb19	G	A	18: 37,498,090 (GRCm38)	E313K	probably benign	Het
Pmel	G	T	10: 128,716,049 (GRCm38)	A251S	probably benign	Het
Polr3d	G	T	14: 70,440,713 (GRCm38)	P181T	probably damaging	Het
Prmt3	A	T	7: 49,780,356 (GRCm38)	H69L	probably damaging	Het
Rc3h2	A	T	2: 37,399,616 (GRCm38)	Y395N	possibly damaging	Het
Rubcnl	A	T	14: 75,032,277 (GRCm38)	N125I	possibly damaging	Het
Skint5	A	T	4: 113,546,487 (GRCm38)	S1179R	unknown	Het
Skint6	C	A	4: 113,238,150 (GRCm38)	G104V	probably damaging	Het
Slc44a3	T	C	3: 121,527,190 (GRCm38)	Y54C	probably damaging	Het
Sp140	TTTTTTTTTTTTT	TTTTTTTTTTTTTTTTTT	1: 85,644,569 (GRCm38)		probably benign	Het
Spag5	A	T	11: 78,321,749 (GRCm38)	I1137F	probably benign	Het
Tchp	A	T	5: 114,715,855 (GRCm38)	Y277F	probably benign	Het
Tdrd12	A	C	7: 35,505,043 (GRCm38)	L267W	probably damaging	Het
Tfcp2	A	T	15: 100,498,211 (GRCm38)	I107N		Het
Vmn1r9	T	C	6: 57,071,528 (GRCm38)	V196A	probably benign	Het
Vmn2r62	T	A	7: 42,764,496 (GRCm38)	D841V		Het
Zzef1	G	T	11: 72,922,476 (GRCm38)	R2901L	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
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
V8831:Shprh	UTSW	10	11,186,862 (GRCm38)	missense	probably damaging	1.00
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'- TGTGGAGCAGACATTGTTAAAACC -3'
(R):5'- GTGCATCAAGAGCACTCAAGTTTC -3'

Sequencing Primer
(F):5'- GTCACTGCACACATGTGGTAC -3'
(R):5'- GAGCACTCAAGTTTCTTCATTTTAC -3'

Posted On

2021-11-19