Mutagenetix > Incidental Mutation

Incidental Mutation 'R0632:Prpf40b'

59744

Institutional Source

Beutler Lab

Gene Symbol

Prpf40b

Ensembl Gene

ENSMUSG00000023007

Gene Name

pre-mRNA processing factor 40B

Synonyms

2610317D23Rik

MMRRC Submission

038821-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R0632 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99295087-99317018 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99316289 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 810 (E810G)

Ref Sequence

ENSEMBL: ENSMUSP00000113282 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023745] [ENSMUST00000081224] [ENSMUST00000088233] [ENSMUST00000118287] [ENSMUST00000120633] [ENSMUST00000126955] [ENSMUST00000136980] [ENSMUST00000145482] [ENSMUST00000150636]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000023745
AA Change: E809G

SMART Domains

Protein: ENSMUSP00000023745
Gene: ENSMUSG00000023007
AA Change: E809G

Domain	Start	End	E-Value	Type
low complexity region	1	24	N/A	INTRINSIC
low complexity region	28	52	N/A	INTRINSIC
low complexity region	56	87	N/A	INTRINSIC
WW	93	125	7.6e-9	SMART
WW	134	166	1.75e-8	SMART
low complexity region	182	212	N/A	INTRINSIC
low complexity region	255	267	N/A	INTRINSIC
FF	276	330	2.36e-14	SMART
FF	410	470	6.94e-3	SMART
FF	490	550	1.41e0	SMART
low complexity region	557	568	N/A	INTRINSIC
FF	626	682	3.41e-11	SMART
low complexity region	693	776	N/A	INTRINSIC
low complexity region	777	796	N/A	INTRINSIC
low complexity region	809	825	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000081224

SMART Domains

Protein: ENSMUSP00000079984
Gene: ENSMUSG00000023008

Domain	Start	End	E-Value	Type
Drf_GBD	26	227	2.99e-88	SMART
Drf_FH3	230	421	6.1e-71	SMART
low complexity region	448	497	N/A	INTRINSIC
FH2	510	944	9.85e-141	SMART
low complexity region	960	975	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000088233

SMART Domains

Protein: ENSMUSP00000085566
Gene: ENSMUSG00000023008

Domain	Start	End	E-Value	Type
Drf_GBD	26	278	3.91e-92	SMART
Drf_FH3	281	472	6.1e-71	SMART
low complexity region	499	548	N/A	INTRINSIC
FH2	561	995	9.85e-141	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118287
AA Change: E810G

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000113282
Gene: ENSMUSG00000023007
AA Change: E810G

Domain	Start	End	E-Value	Type
low complexity region	1	24	N/A	INTRINSIC
low complexity region	28	52	N/A	INTRINSIC
low complexity region	56	87	N/A	INTRINSIC
WW	93	125	7.6e-9	SMART
WW	134	166	1.75e-8	SMART
low complexity region	182	212	N/A	INTRINSIC
low complexity region	255	267	N/A	INTRINSIC
FF	276	330	2.36e-14	SMART
FF	410	470	6.94e-3	SMART
FF	490	550	1.41e0	SMART
low complexity region	557	568	N/A	INTRINSIC
FF	626	682	3.41e-11	SMART
low complexity region	694	777	N/A	INTRINSIC
low complexity region	778	797	N/A	INTRINSIC
low complexity region	810	826	N/A	INTRINSIC
low complexity region	845	866	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120633

SMART Domains

Protein: ENSMUSP00000113094
Gene: ENSMUSG00000023008

Domain	Start	End	E-Value	Type
Drf_GBD	26	278	3.91e-92	SMART
Drf_FH3	281	472	6.1e-71	SMART
low complexity region	499	548	N/A	INTRINSIC
FH2	561	995	9.85e-141	SMART
low complexity region	1011	1026	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124275

Predicted Effect

unknown
Transcript: ENSMUST00000126955
AA Change: R47G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130575

Predicted Effect

unknown
Transcript: ENSMUST00000134034
AA Change: E196G

SMART Domains

Protein: ENSMUSP00000120030
Gene: ENSMUSG00000023007
AA Change: E196G

Domain	Start	End	E-Value	Type
Pfam:FF	11	62	2.2e-7	PFAM
low complexity region	77	92	N/A	INTRINSIC
low complexity region	103	164	N/A	INTRINSIC
low complexity region	165	184	N/A	INTRINSIC
low complexity region	197	213	N/A	INTRINSIC
low complexity region	232	253	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000136980
AA Change: E797G

SMART Domains

Protein: ENSMUSP00000122649
Gene: ENSMUSG00000023007
AA Change: E797G

Domain	Start	End	E-Value	Type
low complexity region	1	18	N/A	INTRINSIC
low complexity region	22	46	N/A	INTRINSIC
low complexity region	50	81	N/A	INTRINSIC
WW	87	119	7.6e-9	SMART
WW	128	160	1.75e-8	SMART
low complexity region	176	206	N/A	INTRINSIC
low complexity region	249	261	N/A	INTRINSIC
FF	270	324	2.36e-14	SMART
FF	404	464	6.94e-3	SMART
FF	484	544	1.41e0	SMART
FF	613	669	3.41e-11	SMART
low complexity region	681	764	N/A	INTRINSIC
low complexity region	765	784	N/A	INTRINSIC
low complexity region	797	813	N/A	INTRINSIC
low complexity region	832	853	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138036

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139330

Predicted Effect

unknown
Transcript: ENSMUST00000145482
AA Change: E813G

SMART Domains

Protein: ENSMUSP00000115869
Gene: ENSMUSG00000023007
AA Change: E813G

Domain	Start	End	E-Value	Type
low complexity region	1	24	N/A	INTRINSIC
low complexity region	28	52	N/A	INTRINSIC
low complexity region	56	87	N/A	INTRINSIC
WW	93	125	7.6e-9	SMART
WW	134	166	1.75e-8	SMART
low complexity region	182	212	N/A	INTRINSIC
low complexity region	255	267	N/A	INTRINSIC
FF	276	330	2.36e-14	SMART
FF	410	470	6.94e-3	SMART
FF	490	550	1.41e0	SMART
low complexity region	557	568	N/A	INTRINSIC
FF	626	682	3.41e-11	SMART
low complexity region	693	708	N/A	INTRINSIC
low complexity region	719	780	N/A	INTRINSIC
low complexity region	781	800	N/A	INTRINSIC
low complexity region	813	829	N/A	INTRINSIC
low complexity region	848	869	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150641

Predicted Effect

unknown
Transcript: ENSMUST00000150636
AA Change: R150G

SMART Domains

Protein: ENSMUSP00000119295
Gene: ENSMUSG00000023007
AA Change: R150G

Domain	Start	End	E-Value	Type
Pfam:FF	1	52	1.2e-7	PFAM
low complexity region	67	82	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153692

Meta Mutation Damage Score

0.0664

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

95% (81/85)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WW-domain containing protein similar to yeast splicing factor PRP40. This protein has been shown to interact with Huntingtin and methyl CpG binding protein 2 (MeCP2). Alternative splicing results in different transcript variants. [provided by RefSeq, Aug 2014]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730559C18Rik	T	C	1: 136,227,618	D83G	probably benign	Het
Acaa1a	T	A	9: 119,347,818		probably benign	Het
Adgrg7	T	A	16: 56,742,589	T462S	possibly damaging	Het
Akap6	A	T	12: 52,937,148	N825I	probably damaging	Het
Ankib1	T	A	5: 3,772,529	N59I	probably benign	Het
Anks6	T	C	4: 47,033,167	S633G	possibly damaging	Het
Ap4e1	C	A	2: 127,049,280	Y522*	probably null	Het
Art5	G	A	7: 102,097,957	T205I	probably damaging	Het
Ascc2	T	A	11: 4,649,855	L176H	probably damaging	Het
Atp13a5	T	C	16: 29,298,208	D529G	probably benign	Het
C2cd4a	T	C	9: 67,831,563	E66G	probably benign	Het
C8a	T	C	4: 104,856,492	D147G	probably damaging	Het
Ccdc14	T	C	16: 34,721,649	V532A	possibly damaging	Het
Ccdc88a	T	A	11: 29,482,749		probably benign	Het
Cfap54	C	T	10: 92,885,096	E2543K	unknown	Het
Cldn13	C	T	5: 134,914,747	E195K	probably benign	Het
Cp	A	G	3: 19,971,082	S402G	probably null	Het
Cpa3	T	C	3: 20,225,194	T194A	probably benign	Het
Crygf	C	A	1: 65,927,997	Y93*	probably null	Het
Ctsh	A	G	9: 90,061,582	R87G	possibly damaging	Het
Cyp2t4	A	G	7: 27,158,246	D428G	possibly damaging	Het
Dnah17	C	G	11: 118,067,682		probably benign	Het
Dnah3	A	G	7: 119,967,905	V2366A	probably benign	Het
Dscaml1	A	T	9: 45,732,134	I1284F	probably benign	Het
Dsg1c	T	C	18: 20,272,346		probably benign	Het
Dst	G	T	1: 34,271,413	R4098L	probably damaging	Het
Efhb	A	G	17: 53,413,459		probably benign	Het
Epha7	A	T	4: 28,821,104	I90F	probably damaging	Het
Fam171a2	T	A	11: 102,437,881	D684V	probably damaging	Het
Fan1	A	G	7: 64,363,199	V665A	possibly damaging	Het
Fbn2	A	G	18: 58,037,747	C2191R	probably damaging	Het
Fkbp3	G	A	12: 65,073,918	A2V	probably benign	Het
G6pd2	A	G	5: 61,810,171	N430D	probably benign	Het
Gm13119	G	A	4: 144,363,782	C464Y	probably damaging	Het
Gm13547	T	A	2: 29,761,584	D7E	possibly damaging	Het
Hdac5	A	T	11: 102,205,812	D260E	probably damaging	Het
Hist1h4i	G	T	13: 22,041,027	Y99*	probably null	Het
Hsf2bp	T	C	17: 32,013,346	E142G	probably damaging	Het
Igf1r	C	T	7: 68,165,155	T268I	probably damaging	Het
Kcne3	C	T	7: 100,184,439	R88C	probably damaging	Het
Klk1b9	G	T	7: 43,979,372	G100V	possibly damaging	Het
Kmt2d	G	A	15: 98,853,581		probably benign	Het
Lama1	C	T	17: 67,752,368		probably benign	Het
Lcp2	C	T	11: 34,082,426	P335S	possibly damaging	Het
Lrrk2	T	A	15: 91,796,028	N2047K	probably damaging	Het
Mcub	T	C	3: 129,918,726	M167V	probably benign	Het
Mia2	T	C	12: 59,136,143	L36P	probably damaging	Het
Mmp13	G	A	9: 7,274,032	G169R	probably damaging	Het
Mmp13	A	T	9: 7,282,077	I460F	possibly damaging	Het
Msh4	A	G	3: 153,896,895	I232T	probably damaging	Het
Msra	T	A	14: 64,210,532	M145L	probably benign	Het
Myo7a	A	T	7: 98,112,150		probably benign	Het
Nme8	A	T	13: 19,658,036	N422K	probably damaging	Het
Nol6	A	T	4: 41,121,115	F353I	probably damaging	Het
Nphp3	A	G	9: 104,018,274	K384E	probably damaging	Het
Olfr572	C	T	7: 102,928,604		probably null	Het
Olfr652	A	G	7: 104,564,337	I39V	probably benign	Het
Olfr672	A	G	7: 104,996,703	I67T	probably benign	Het
Phox2b	T	G	5: 67,096,214		probably benign	Het
Plec	A	T	15: 76,173,411	S4131T	probably damaging	Het
Pptc7	G	A	5: 122,313,591		probably benign	Het
Ptprc	C	T	1: 138,073,610	V965I	probably benign	Het
Pum1	T	A	4: 130,728,104	M180K	probably benign	Het
Ranbp3	T	C	17: 56,702,896		probably benign	Het
Rasgrf2	A	G	13: 91,972,274	S787P	probably benign	Het
Rnf19b	T	A	4: 129,073,551	N294K	probably damaging	Het
Samd3	A	T	10: 26,244,495	H156L	possibly damaging	Het
Serpinb6c	C	T	13: 33,880,031	R347Q	possibly damaging	Het
Slc36a3	A	G	11: 55,125,080	I416T	probably damaging	Het
Slc4a4	T	A	5: 89,129,641	F279Y	probably damaging	Het
Slc6a2	T	A	8: 92,992,801		probably benign	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Tab2	A	G	10: 7,919,801	S232P	probably benign	Het
Tacc2	A	T	7: 130,625,595	K1356*	probably null	Het
Tmem87a	A	G	2: 120,359,542	S544P	probably damaging	Het
Trim52	T	A	14: 106,106,967	C20S	probably damaging	Het
Usp38	A	T	8: 81,014,150	V96E	probably benign	Het
Vmn2r59	T	C	7: 42,058,884	Y33C	probably damaging	Het
Vsig10l	T	G	7: 43,464,137	V171G	probably damaging	Het
Zfp957	T	A	14: 79,212,920	I480F	probably damaging	Het

Other mutations in Prpf40b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00688:Prpf40b	APN	15	99316131	missense	probably benign	0.04
IGL00821:Prpf40b	APN	15	99316501	missense	probably benign	0.04
IGL00949:Prpf40b	APN	15	99306538	missense	probably benign	0.00
IGL01621:Prpf40b	APN	15	99310045	unclassified	probably benign
IGL01816:Prpf40b	APN	15	99315218	missense	probably damaging	1.00
IGL01878:Prpf40b	APN	15	99306532	missense	possibly damaging	0.84
IGL01886:Prpf40b	APN	15	99304447	missense	unknown
IGL02025:Prpf40b	APN	15	99314588	missense	probably damaging	1.00
IGL02440:Prpf40b	APN	15	99306866	missense	probably damaging	0.98
R0101:Prpf40b	UTSW	15	99306800	splice site	probably benign
R0284:Prpf40b	UTSW	15	99316393	splice site	probably benign
R0356:Prpf40b	UTSW	15	99305199	splice site	probably null
R0602:Prpf40b	UTSW	15	99304471	missense	unknown
R1220:Prpf40b	UTSW	15	99316348	missense	probably benign	0.10
R1660:Prpf40b	UTSW	15	99305561	missense	probably damaging	1.00
R2224:Prpf40b	UTSW	15	99303291	start gained	probably benign
R2245:Prpf40b	UTSW	15	99305166	intron	probably benign
R2342:Prpf40b	UTSW	15	99306168	missense	probably damaging	0.98
R4019:Prpf40b	UTSW	15	99316476	missense	probably benign	0.10
R4449:Prpf40b	UTSW	15	99314663	missense	probably damaging	1.00
R4622:Prpf40b	UTSW	15	99316316	missense	probably benign	0.01
R4869:Prpf40b	UTSW	15	99309845	intron	probably benign
R5960:Prpf40b	UTSW	15	99314904	missense	probably damaging	1.00
R6734:Prpf40b	UTSW	15	99314903	missense	probably damaging	1.00
R6735:Prpf40b	UTSW	15	99314903	missense	probably damaging	1.00
R6776:Prpf40b	UTSW	15	99314903	missense	probably damaging	1.00
R6783:Prpf40b	UTSW	15	99314903	missense	probably damaging	1.00
R7025:Prpf40b	UTSW	15	99306400	nonsense	probably null
R7544:Prpf40b	UTSW	15	99306018	missense	probably benign	0.01
R7733:Prpf40b	UTSW	15	99308343	critical splice donor site	probably null
R8133:Prpf40b	UTSW	15	99304438	missense	unknown
R8193:Prpf40b	UTSW	15	99304068	missense	unknown
R8248:Prpf40b	UTSW	15	99316285	missense	unknown
R8669:Prpf40b	UTSW	15	99303347	start codon destroyed	probably null
R8670:Prpf40b	UTSW	15	99309740	missense	probably damaging	0.96
R9191:Prpf40b	UTSW	15	99304183	missense	probably null
X0019:Prpf40b	UTSW	15	99307703	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAGCAAGACTTCCTATCTCTGCC -3'
(R):5'- AAAGGTGTGACTTACCTGAGCCCC -3'

Sequencing Primer
(F):5'- TCATGGTCTTCGGAAAACCAAG -3'
(R):5'- TGAGCCCCCTAGTCTGTG -3'

Posted On

2013-07-11