Mutagenetix > Incidental Mutation

Incidental Mutation 'R4768:Shprh'

366283

Institutional Source

Beutler Lab

Gene Symbol

Shprh

Ensembl Gene

ENSMUSG00000090112

Gene Name

SNF2 histone linker PHD RING helicase

Synonyms

2610103K11Rik, D230017O13Rik

MMRRC Submission

042409-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4768 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11149427-11217595 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11181540 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1068 (E1068G)

Ref Sequence

ENSEMBL: ENSMUSP00000132870 (fasta)

Gene Model

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

AlphaFold

Q7TPQ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000044053
AA Change: E1068G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000039422
Gene: ENSMUSG00000090112
AA Change: E1068G

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 damaging
Transcript: ENSMUST00000054814
AA Change: E1068G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125849
Gene: ENSMUSG00000090112
AA Change: E1068G

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: E1068G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132870
Gene: ENSMUSG00000090112
AA Change: E1068G

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

noncoding transcript
Transcript: ENSMUST00000159553

Predicted Effect

probably benign
Transcript: ENSMUST00000159810

SMART Domains

Protein: ENSMUSP00000125457
Gene: ENSMUSG00000090112

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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933408B17Rik	T	C	18: 34,580,952 (GRCm38)	R207G	probably damaging	Het
Acadm	A	G	3: 153,922,942 (GRCm38)	Y419H	probably benign	Het
Adam28	A	G	14: 68,634,815 (GRCm38)	V326A	possibly damaging	Het
Amdhd1	T	A	10: 93,534,484 (GRCm38)	E164V	possibly damaging	Het
Arhgap5	T	C	12: 52,557,492 (GRCm38)	L29S	probably damaging	Het
Asb5	G	A	8: 54,584,996 (GRCm38)	D185N	probably benign	Het
Ascc3	T	C	10: 50,700,499 (GRCm38)	I850T	probably damaging	Het
Atxn1	A	G	13: 45,557,548 (GRCm38)	V636A	probably damaging	Het
Bmp4	C	T	14: 46,385,924 (GRCm38)	R55Q	probably damaging	Het
Cmas	T	C	6: 142,764,431 (GRCm38)		probably null	Het
Dchs1	T	C	7: 105,771,620 (GRCm38)	D531G	possibly damaging	Het
Etv1	T	C	12: 38,827,793 (GRCm38)	L44P	probably damaging	Het
Fam13c	T	A	10: 70,551,750 (GRCm38)	I448N	probably damaging	Het
Fuk	T	C	8: 110,892,134 (GRCm38)	T331A	probably benign	Het
Fut8	A	G	12: 77,365,280 (GRCm38)	K135E	probably benign	Het
Gabrg1	A	G	5: 70,754,173 (GRCm38)	F370S	probably damaging	Het
Ighv1-5	A	T	12: 114,513,523 (GRCm38)	M53K	probably damaging	Het
Igkv9-120	G	T	6: 68,050,367 (GRCm38)	R88S	possibly damaging	Het
Kansl1l	A	G	1: 66,801,133 (GRCm38)	V336A	probably damaging	Het
Krt27	T	A	11: 99,349,525 (GRCm38)	D189V	probably damaging	Het
Marf1	A	T	16: 14,131,597 (GRCm38)	F1033I	possibly damaging	Het
Mdfi	G	A	17: 47,824,550 (GRCm38)	T85M	probably damaging	Het
Mrgpra3	C	A	7: 47,589,728 (GRCm38)	R150L	possibly damaging	Het
Mst1r	C	A	9: 107,911,650 (GRCm38)	T456K	probably damaging	Het
Myh14	A	T	7: 44,613,675 (GRCm38)	M1734K	probably benign	Het
Myo1e	T	C	9: 70,370,469 (GRCm38)	I816T	possibly damaging	Het
Olfr1066	A	T	2: 86,455,650 (GRCm38)	L207*	probably null	Het
Olfr77	A	C	9: 19,920,545 (GRCm38)	N112T	possibly damaging	Het
Olfr874	T	C	9: 37,746,881 (GRCm38)	L249P	probably damaging	Het
Olfr922	T	A	9: 38,815,949 (GRCm38)	Y149N	probably damaging	Het
Pde4d	A	G	13: 109,933,874 (GRCm38)	R6G	probably damaging	Het
Pilrb1	G	A	5: 137,857,526 (GRCm38)		probably benign	Het
Prrx1	A	G	1: 163,257,765 (GRCm38)	Y199H	probably damaging	Het
Rxfp1	T	C	3: 79,686,868 (GRCm38)	D73G	probably damaging	Het
Ryr1	G	T	7: 29,004,821 (GRCm38)		probably benign	Het
Slc19a3	G	A	1: 83,023,113 (GRCm38)	T61I	probably damaging	Het
Slc9a2	G	A	1: 40,726,374 (GRCm38)	R308Q	probably damaging	Het
Suclg2	T	G	6: 95,566,488 (GRCm38)	I321L	probably damaging	Het
Top3a	A	G	11: 60,762,490 (GRCm38)	F53L	probably damaging	Het
Ttn	C	T	2: 76,768,766 (GRCm38)		probably benign	Het
Upp2	T	C	2: 58,777,895 (GRCm38)	V182A	probably damaging	Het
Vmn2r65	A	G	7: 84,947,394 (GRCm38)	L151P	probably damaging	Het
Xylt2	T	C	11: 94,670,472 (GRCm38)	D155G	probably benign	Het
Zzz3	A	G	3: 152,448,783 (GRCm38)	D557G	probably damaging	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
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
R9053:Shprh	UTSW	10	11,154,702 (GRCm38)	missense	probably benign	0.04
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'- TGGTGGGGCAATATTACTCG -3'
(R):5'- AATATAGAGTCCAACTTTCTCTGCC -3'

Sequencing Primer
(F):5'- TGGGGCAATATTACTCGAATATTTTC -3'
(R):5'- CCACCACAGCAATGTTTGG -3'

Posted On

2015-12-21