Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4581001:Shprh'

556513

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 #

PIT4581001 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

11149427-11217595 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

TAAAA to T at 11192494 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000039422 (fasta)

Gene Model

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

AlphaFold

Q7TPQ3

Predicted Effect

probably null
Transcript: ENSMUST00000044053

SMART Domains

Protein: ENSMUSP00000039422
Gene: ENSMUSG00000090112

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

SMART Domains

Protein: ENSMUSP00000125849
Gene: ENSMUSG00000090112

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

SMART Domains

Protein: ENSMUSP00000132870
Gene: ENSMUSG00000090112

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

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: 92.9%
3x: 90.6%
10x: 84.5%
20x: 71.1%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	T	C	3: 89,343,832 (GRCm38)	H522R	probably benign	Het
Adcy8	A	T	15: 64,754,817 (GRCm38)	I724N	probably damaging	Het
Cdk2ap1rt	A	G	11: 48,826,144 (GRCm38)	I69T	possibly damaging	Het
Cstdc6	T	C	16: 36,322,932 (GRCm38)	I52V	probably benign	Het
Ctsj	A	T	13: 61,002,556 (GRCm38)	C210S	probably damaging	Het
Cyp2d12	A	G	15: 82,558,451 (GRCm38)	E365G	probably damaging	Het
Dbi	A	T	1: 120,119,912 (GRCm38)	V85E	probably damaging	Het
Dhrs7b	A	G	11: 60,851,897 (GRCm38)	I153M	possibly damaging	Het
Dock10	C	A	1: 80,505,446 (GRCm38)	C2096F	probably damaging	Het
Eid3	T	A	10: 82,867,755 (GRCm38)	I350K	probably damaging	Het
Fam83b	A	T	9: 76,491,152 (GRCm38)	F890I	probably damaging	Het
Fras1	G	A	5: 96,555,301 (GRCm38)	D308N	probably benign	Het
Ftsj3	T	C	11: 106,249,476 (GRCm38)	D822G	unknown	Het
Gabra5	T	C	7: 57,488,857 (GRCm38)	T148A	probably damaging	Het
Gad1	A	G	2: 70,599,667 (GRCm38)	D526G	probably benign	Het
Gm21698	T	A	5: 25,987,352 (GRCm38)	T79S	probably benign	Het
Gon4l	T	G	3: 88,895,514 (GRCm38)	V1144G	probably damaging	Het
Ighv1-24	A	T	12: 114,773,183 (GRCm38)	N32K	probably benign	Het
Islr	T	C	9: 58,157,201 (GRCm38)	N341S	possibly damaging	Het
Mybph	A	G	1: 134,194,741 (GRCm38)	T175A	probably benign	Het
Mycn	T	C	12: 12,940,243 (GRCm38)	K51E	possibly damaging	Het
Myh14	T	C	7: 44,613,482 (GRCm38)	N1763D	probably benign	Het
Myrip	T	C	9: 120,467,517 (GRCm38)	S831P	probably damaging	Het
Neb	G	T	2: 52,288,802 (GRCm38)	A1314E	probably damaging	Het
Notch2	T	C	3: 98,104,462 (GRCm38)	Y599H	probably damaging	Het
Npr1	C	A	3: 90,462,257 (GRCm38)	G387V	probably damaging	Het
Or6e1	T	A	14: 54,282,538 (GRCm38)	D119V	probably damaging	Het
Orai2	G	A	5: 136,150,510 (GRCm38)	T223M	probably damaging	Het
Pcdhga5	A	G	18: 37,696,857 (GRCm38)	E786G	probably benign	Het
Pde6b	A	G	5: 108,428,508 (GRCm38)	T749A	probably benign	Het
Pdzrn3	A	G	6: 101,151,503 (GRCm38)	V734A	probably benign	Het
Pkd1l1	GCC	GCCC	11: 8,916,298 (GRCm38)		probably null	Het
Recql5	C	A	11: 115,932,856 (GRCm38)	K21N	possibly damaging	Het
Rimbp3	G	A	16: 17,210,716 (GRCm38)	S668N	possibly damaging	Het
Sdr42e1	A	T	8: 117,663,518 (GRCm38)	I128N	probably damaging	Het
Slc15a2	A	T	16: 36,772,043 (GRCm38)	C251S	probably benign	Het
Slc17a4	A	T	13: 23,902,018 (GRCm38)	S329T	probably damaging	Het
Slc35a1	A	G	4: 34,669,501 (GRCm38)	V246A	possibly damaging	Het
Slc37a2	A	T	9: 37,237,405 (GRCm38)	S260R	probably benign	Het
Slco6d1	A	T	1: 98,423,325 (GRCm38)	I177L	possibly damaging	Het
Tmcc1	A	G	6: 116,043,456 (GRCm38)	V345A		Het
Tmod2	T	C	9: 75,597,301 (GRCm38)	Y12C	probably damaging	Het
Top2a	A	T	11: 99,002,964 (GRCm38)	W1035R	probably damaging	Het
Trpc1	A	G	9: 95,736,921 (GRCm38)	S126P	probably benign	Het
Ttn	A	G	2: 76,733,961 (GRCm38)	S28576P	probably damaging	Het
Vmn1r16	A	T	6: 57,322,873 (GRCm38)	W255R	probably benign	Het
Vmn2r5	T	A	3: 64,503,927 (GRCm38)	K407*	probably null	Het
Vps13b	G	T	15: 35,534,263 (GRCm38)	W908C	probably damaging	Het
Ykt6	A	G	11: 5,962,747 (GRCm38)	K150E	possibly damaging	Het
Zbtb2	A	G	10: 4,369,265 (GRCm38)	Y254H	possibly damaging	Het
Zfp217	A	G	2: 170,114,583 (GRCm38)	S832P	probably benign	Het
Zfp595	A	G	13: 67,317,885 (GRCm38)	S108P	probably benign	Het
Zfp786	A	T	6: 47,819,822 (GRCm38)	F727L	probably damaging	Het
Zzef1	G	A	11: 72,899,672 (GRCm38)	V2151I	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
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
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'- AGTAGCATAACACTATAAGCTGTGG -3'
(R):5'- GACCCTACCTCTAACAGTTATGAG -3'

Sequencing Primer
(F):5'- GTGTGCTGAATAAATTCCAGAAATAG -3'
(R):5'- CTACCTCTAACAGTTATGAGAAAGTG -3'

Posted On

2019-06-07