Mutagenetix > Incidental Mutation

Incidental Mutation 'R9391:Shprh'

710599

Institutional Source

Beutler Lab

Gene Symbol

Shprh

Ensembl Gene

ENSMUSG00000090112

Gene Name

SNF2 histone linker PHD RING helicase

Synonyms

2610103K11Rik, D230017O13Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9391 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11025171-11093339 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 11038633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 463 (V463I)

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: V463I

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000039422
Gene: ENSMUSG00000090112
AA Change: V463I

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: V463I

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000125849
Gene: ENSMUSG00000090112
AA Change: V463I

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: V463I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132870
Gene: ENSMUSG00000090112
AA Change: V463I

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: V463I

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000125457
Gene: ENSMUSG00000090112
AA Change: V463I

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: 99.7%
20x: 99.1%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	C	11: 110,178,542 (GRCm39)	T1144A	probably benign	Het
Adam32	C	T	8: 25,374,472 (GRCm39)	E507K	probably damaging	Het
Adgrf3	T	C	5: 30,400,071 (GRCm39)	E974G	possibly damaging	Het
Agbl1	A	G	7: 76,071,602 (GRCm39)	E560G	unknown	Het
Ank2	A	T	3: 126,731,394 (GRCm39)	H671Q	probably damaging	Het
Asic5	C	T	3: 81,928,366 (GRCm39)	T485M	probably benign	Het
Bco2	T	C	9: 50,446,022 (GRCm39)		probably null	Het
C1qtnf6	A	G	15: 78,415,516 (GRCm39)	C23R	unknown	Het
Ccdc18	T	C	5: 108,376,770 (GRCm39)	F1404L	probably benign	Het
Cfap46	A	T	7: 139,198,027 (GRCm39)	I2107N	unknown	Het
Cfap97d1	G	T	11: 101,881,655 (GRCm39)	R117I	probably benign	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Cpb2	A	C	14: 75,508,136 (GRCm39)	Q199P	probably damaging	Het
Dnah7b	T	A	1: 46,272,914 (GRCm39)	Y2347*	probably null	Het
Dyrk1a	T	A	16: 94,460,373 (GRCm39)	C10S	possibly damaging	Het
F2r	A	T	13: 95,740,656 (GRCm39)	V293D	probably damaging	Het
Gm28363	G	A	1: 117,626,629 (GRCm39)	W22*	probably null	Het
Hira	T	C	16: 18,767,892 (GRCm39)	S696P	possibly damaging	Het
Klhl2	A	G	8: 65,275,684 (GRCm39)	V73A	probably damaging	Het
Lalba	A	T	15: 98,380,417 (GRCm39)	W46R	probably damaging	Het
Map3k13	C	A	16: 21,740,665 (GRCm39)	T664N	probably benign	Het
Ncor1	T	A	11: 62,216,376 (GRCm39)	K1166*	probably null	Het
Npdc1	T	A	2: 25,297,979 (GRCm39)	M176K	possibly damaging	Het
Obscn	A	G	11: 58,964,408 (GRCm39)	S3045P	probably damaging	Het
Or13a20	G	A	7: 140,232,272 (GRCm39)	A127T	probably damaging	Het
Plekhg4	G	C	8: 106,106,043 (GRCm39)	K813N	probably damaging	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Prdm12	G	A	2: 31,544,162 (GRCm39)	R255H	probably benign	Het
Rbbp8	T	C	18: 11,854,990 (GRCm39)	I405T	possibly damaging	Het
Sctr	A	G	1: 119,983,178 (GRCm39)	T328A	probably benign	Het
Sec63	T	A	10: 42,681,101 (GRCm39)	S362T	probably benign	Het
Sgsm2	A	G	11: 74,744,630 (GRCm39)	L818P	probably damaging	Het
Smyd5	T	C	6: 85,418,739 (GRCm39)	F241S	probably damaging	Het
Tax1bp1	T	A	6: 52,735,220 (GRCm39)	Y680*	probably null	Het
Tbc1d17	A	G	7: 44,494,683 (GRCm39)	S212P	probably damaging	Het
Tle1	A	T	4: 72,116,159 (GRCm39)	V62E	probably damaging	Het
Tnfaip3	G	T	10: 18,883,075 (GRCm39)	N163K	probably damaging	Het
Trim8	T	A	19: 46,503,955 (GRCm39)	Y502*	probably null	Het
Trip12	A	T	1: 84,773,473 (GRCm39)	F54L	probably benign	Het
Trpc2	T	A	7: 101,745,067 (GRCm39)	L761Q	probably damaging	Het
Vps41	A	T	13: 18,994,616 (GRCm39)	E154D	probably benign	Het

Other mutations in Shprh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Shprh	APN	10	11,063,902 (GRCm39)	missense	probably damaging	1.00
IGL00583:Shprh	APN	10	11,063,764 (GRCm39)	missense	probably benign	0.37
IGL00684:Shprh	APN	10	11,038,781 (GRCm39)	missense	probably benign	0.11
IGL01295:Shprh	APN	10	11,059,612 (GRCm39)	missense	probably damaging	0.96
IGL01387:Shprh	APN	10	11,045,998 (GRCm39)	missense	probably damaging	1.00
IGL01635:Shprh	APN	10	11,045,763 (GRCm39)	nonsense	probably null
IGL01833:Shprh	APN	10	11,066,806 (GRCm39)	missense	probably damaging	1.00
IGL02013:Shprh	APN	10	11,057,246 (GRCm39)	splice site	probably benign
IGL02502:Shprh	APN	10	11,070,101 (GRCm39)	missense	possibly damaging	0.66
IGL02819:Shprh	APN	10	11,030,509 (GRCm39)	missense	possibly damaging	0.93
PIT4581001:Shprh	UTSW	10	11,068,238 (GRCm39)	frame shift	probably null
R0010:Shprh	UTSW	10	11,027,675 (GRCm39)	missense	probably benign
R0010:Shprh	UTSW	10	11,027,675 (GRCm39)	missense	probably benign
R0053:Shprh	UTSW	10	11,070,116 (GRCm39)	splice site	probably null
R0053:Shprh	UTSW	10	11,070,116 (GRCm39)	splice site	probably null
R0255:Shprh	UTSW	10	11,062,135 (GRCm39)	missense	possibly damaging	0.92
R0325:Shprh	UTSW	10	11,045,853 (GRCm39)	missense	probably benign	0.00
R0331:Shprh	UTSW	10	11,069,914 (GRCm39)	splice site	probably benign
R0494:Shprh	UTSW	10	11,032,935 (GRCm39)	missense	probably damaging	1.00
R0532:Shprh	UTSW	10	11,038,556 (GRCm39)	missense	possibly damaging	0.90
R0546:Shprh	UTSW	10	11,059,631 (GRCm39)	splice site	probably benign
R0574:Shprh	UTSW	10	11,038,821 (GRCm39)	unclassified	probably benign
R0605:Shprh	UTSW	10	11,082,856 (GRCm39)	missense	probably damaging	1.00
R0662:Shprh	UTSW	10	11,062,591 (GRCm39)	missense	probably damaging	1.00
R1148:Shprh	UTSW	10	11,089,226 (GRCm39)	missense	possibly damaging	0.95
R1148:Shprh	UTSW	10	11,089,226 (GRCm39)	missense	possibly damaging	0.95
R1263:Shprh	UTSW	10	11,035,274 (GRCm39)	missense	probably damaging	1.00
R1588:Shprh	UTSW	10	11,040,488 (GRCm39)	missense	probably damaging	1.00
R1638:Shprh	UTSW	10	11,032,822 (GRCm39)	missense	probably benign
R1830:Shprh	UTSW	10	11,062,655 (GRCm39)	splice site	probably null
R1898:Shprh	UTSW	10	11,062,613 (GRCm39)	missense	probably damaging	1.00
R1903:Shprh	UTSW	10	11,059,541 (GRCm39)	nonsense	probably null
R2060:Shprh	UTSW	10	11,027,864 (GRCm39)	missense	probably benign	0.03
R2225:Shprh	UTSW	10	11,037,979 (GRCm39)	unclassified	probably benign
R2363:Shprh	UTSW	10	11,047,697 (GRCm39)	missense	probably damaging	1.00
R2509:Shprh	UTSW	10	11,042,468 (GRCm39)	missense	probably damaging	1.00
R2891:Shprh	UTSW	10	11,040,100 (GRCm39)	missense	probably damaging	1.00
R3077:Shprh	UTSW	10	11,046,157 (GRCm39)	missense	probably damaging	1.00
R3150:Shprh	UTSW	10	11,045,774 (GRCm39)	missense	probably damaging	0.97
R3796:Shprh	UTSW	10	11,054,501 (GRCm39)	missense	possibly damaging	0.89
R4196:Shprh	UTSW	10	11,083,604 (GRCm39)	utr 3 prime	probably benign
R4423:Shprh	UTSW	10	11,062,262 (GRCm39)	missense	possibly damaging	0.82
R4488:Shprh	UTSW	10	11,036,215 (GRCm39)	missense	probably benign	0.17
R4748:Shprh	UTSW	10	11,046,220 (GRCm39)	missense	probably damaging	1.00
R4768:Shprh	UTSW	10	11,057,284 (GRCm39)	missense	probably damaging	0.96
R4867:Shprh	UTSW	10	11,040,301 (GRCm39)	missense	probably benign	0.00
R4937:Shprh	UTSW	10	11,032,863 (GRCm39)	missense	probably benign
R5140:Shprh	UTSW	10	11,030,449 (GRCm39)	missense	probably benign	0.03
R5318:Shprh	UTSW	10	11,042,301 (GRCm39)	missense	probably benign	0.04
R5323:Shprh	UTSW	10	11,046,041 (GRCm39)	splice site	probably null
R5450:Shprh	UTSW	10	11,088,074 (GRCm39)	missense	possibly damaging	0.70
R5872:Shprh	UTSW	10	11,063,817 (GRCm39)	missense	probably damaging	1.00
R6030:Shprh	UTSW	10	11,027,735 (GRCm39)	missense	probably benign	0.37
R6030:Shprh	UTSW	10	11,027,735 (GRCm39)	missense	probably benign	0.37
R6392:Shprh	UTSW	10	11,054,485 (GRCm39)	nonsense	probably null
R6416:Shprh	UTSW	10	11,043,617 (GRCm39)	missense	probably damaging	1.00
R6470:Shprh	UTSW	10	11,047,681 (GRCm39)	missense	probably damaging	0.98
R6513:Shprh	UTSW	10	11,062,637 (GRCm39)	missense	probably damaging	1.00
R6530:Shprh	UTSW	10	11,070,011 (GRCm39)	missense	probably benign	0.02
R6678:Shprh	UTSW	10	11,042,289 (GRCm39)	missense	probably benign	0.16
R6757:Shprh	UTSW	10	11,057,252 (GRCm39)	splice site	probably null
R6971:Shprh	UTSW	10	11,042,437 (GRCm39)	missense	probably damaging	1.00
R7158:Shprh	UTSW	10	11,042,474 (GRCm39)	missense	probably damaging	0.98
R7582:Shprh	UTSW	10	11,040,449 (GRCm39)	missense	probably benign
R7757:Shprh	UTSW	10	11,037,924 (GRCm39)	missense	probably benign	0.30
R7812:Shprh	UTSW	10	11,027,735 (GRCm39)	missense	probably benign
R7998:Shprh	UTSW	10	11,061,085 (GRCm39)	missense	probably damaging	1.00
R8061:Shprh	UTSW	10	11,088,077 (GRCm39)	missense	possibly damaging	0.71
R8082:Shprh	UTSW	10	11,027,555 (GRCm39)	missense	probably benign	0.22
R8116:Shprh	UTSW	10	11,089,205 (GRCm39)	missense	probably damaging	0.99
R8390:Shprh	UTSW	10	11,063,727 (GRCm39)	missense	possibly damaging	0.92
R8445:Shprh	UTSW	10	11,057,313 (GRCm39)	missense	possibly damaging	0.92
R8530:Shprh	UTSW	10	11,027,678 (GRCm39)	missense	probably benign	0.37
R8759:Shprh	UTSW	10	11,032,908 (GRCm39)	missense	possibly damaging	0.92
R8937:Shprh	UTSW	10	11,061,181 (GRCm39)	missense	possibly damaging	0.60
R8995:Shprh	UTSW	10	11,040,574 (GRCm39)	nonsense	probably null
R9053:Shprh	UTSW	10	11,030,446 (GRCm39)	missense	probably benign	0.04
R9131:Shprh	UTSW	10	11,038,589 (GRCm39)	missense	possibly damaging	0.58
R9176:Shprh	UTSW	10	11,036,320 (GRCm39)	missense	probably benign	0.02
R9423:Shprh	UTSW	10	11,081,007 (GRCm39)	missense	probably damaging	1.00
R9563:Shprh	UTSW	10	11,042,235 (GRCm39)	nonsense	probably null
R9668:Shprh	UTSW	10	11,082,076 (GRCm39)	missense	probably damaging	0.97
R9709:Shprh	UTSW	10	11,038,574 (GRCm39)	missense	possibly damaging	0.91
R9718:Shprh	UTSW	10	11,089,248 (GRCm39)	missense	probably damaging	1.00
R9750:Shprh	UTSW	10	11,040,204 (GRCm39)	missense	probably damaging	0.98
RF012:Shprh	UTSW	10	11,040,585 (GRCm39)	missense	probably benign	0.02
V8831:Shprh	UTSW	10	11,062,606 (GRCm39)	missense	probably damaging	1.00
Z1176:Shprh	UTSW	10	11,062,191 (GRCm39)	missense	probably damaging	1.00
Z1176:Shprh	UTSW	10	11,040,297 (GRCm39)	missense	probably benign
Z1177:Shprh	UTSW	10	11,027,506 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GGAATCGTAGCATAACATGTACTAG -3'
(R):5'- GGCGTTGTATATGAGTACATGCAC -3'

Sequencing Primer
(F):5'- TTAAGTCTTTTATTTGTACCCAGTCC -3'
(R):5'- GCACTTAATAAATGATGTTACCTGC -3'

Posted On

2022-04-18