Mutagenetix > Incidental Mutations

Incidental Mutation 'R0284:Prpf40b'

24637

Institutional Source

Beutler Lab

Gene Symbol

Prpf40b

Ensembl Gene

ENSMUSG00000023007

Gene Name

pre-mRNA processing factor 40B

Synonyms

2610317D23Rik

MMRRC Submission

038505-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R0284 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99295087-99317018 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 99316393 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119295 (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

probably benign
Transcript: ENSMUST00000023745

SMART Domains

Protein: ENSMUSP00000023745
Gene: ENSMUSG00000023007

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

SMART Domains

Protein: ENSMUSP00000113282
Gene: ENSMUSG00000023007

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

probably benign
Transcript: ENSMUST00000126955

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130575

Predicted Effect

probably benign
Transcript: ENSMUST00000134034

SMART Domains

Protein: ENSMUSP00000120030
Gene: ENSMUSG00000023007

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

probably benign
Transcript: ENSMUST00000136980

SMART Domains

Protein: ENSMUSP00000122649
Gene: ENSMUSG00000023007

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

probably benign
Transcript: ENSMUST00000145482

SMART Domains

Protein: ENSMUSP00000115869
Gene: ENSMUSG00000023007

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

probably benign
Transcript: ENSMUST00000150636

SMART Domains

Protein: ENSMUSP00000119295
Gene: ENSMUSG00000023007

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: ENSMUST00000150641

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153692

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 92.4%

Validation Efficiency

100% (61/61)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	T	G	4: 41,507,538	E150A	probably damaging	Het
Akap2	T	C	4: 57,855,207	F220L	probably damaging	Het
Alkbh6	A	G	7: 30,313,988	T161A	probably benign	Het
Alox12e	A	G	11: 70,320,899		probably benign	Het
Ap1g2	A	G	14: 55,101,692		probably benign	Het
Arid2	A	T	15: 96,378,967		probably benign	Het
Bmp2k	A	T	5: 97,068,455	H604L	unknown	Het
Cacna1a	A	T	8: 84,612,285	M1705L	probably damaging	Het
Cacna1d	A	T	14: 30,072,105	D1526E	probably damaging	Het
Ccdc171	A	G	4: 83,549,738	R107G	possibly damaging	Het
Cklf	T	C	8: 104,261,575		probably benign	Het
Crabp1	A	G	9: 54,764,926	K9E	probably benign	Het
Cspg4	A	G	9: 56,886,139	D386G	probably damaging	Het
Cyp3a41b	G	A	5: 145,578,204		probably benign	Het
Dsg1a	T	A	18: 20,331,627	V393E	probably damaging	Het
Ednrb	C	T	14: 103,820,013	G371D	probably damaging	Het
Efcab5	T	C	11: 77,103,527		probably benign	Het
Exoc2	A	T	13: 30,877,625		probably benign	Het
Fbn2	G	A	18: 58,050,290		probably benign	Het
Foxo6	T	C	4: 120,269,002	S199G	probably benign	Het
Fpr1	T	A	17: 17,877,356	I124F	probably damaging	Het
Gk5	A	T	9: 96,181,770		probably null	Het
Gys1	A	T	7: 45,436,719		probably benign	Het
Igfbp1	T	C	11: 7,198,103	S49P	probably damaging	Het
Incenp	A	T	19: 9,893,993	S91T	unknown	Het
Itpkc	G	A	7: 27,214,543	R498*	probably null	Het
Kat6a	A	G	8: 22,939,803	T1725A	unknown	Het
Kiz	T	A	2: 146,863,810	C97S	probably benign	Het
Kri1	A	G	9: 21,276,552		probably benign	Het
Lipn	A	G	19: 34,080,706	S276G	possibly damaging	Het
Llgl1	A	G	11: 60,712,141	T881A	probably damaging	Het
Man1a2	T	C	3: 100,684,786	H26R	probably damaging	Het
Map3k5	T	A	10: 20,000,613	F173I	probably damaging	Het
Miox	C	T	15: 89,336,274	L189F	possibly damaging	Het
Mipol1	A	G	12: 57,457,069	Q341R	probably damaging	Het
Mllt6	G	T	11: 97,678,605	A928S	probably benign	Het
Ncoa6	TGC	TGCGC	2: 155,408,291		probably null	Het
Nipsnap3a	C	T	4: 52,997,178	T150I	probably benign	Het
Nsl1	A	G	1: 191,065,230	E97G	probably damaging	Het
Olfr1278	T	C	2: 111,292,586	V106A	probably benign	Het
Olfr251	G	A	9: 38,378,584	M234I	probably benign	Het
Olfr736	G	A	14: 50,392,995	V80M	probably damaging	Het
Olfr830	A	T	9: 18,875,552	Y72F	probably benign	Het
Pdcd6ip	A	G	9: 113,662,504	L552S	probably damaging	Het
Plekhf2	T	C	4: 10,990,595		probably benign	Het
Prdm1	T	C	10: 44,456,626	E96G	probably damaging	Het
Prpf40a	T	A	2: 53,150,647	E608D	probably damaging	Het
Rag2	T	C	2: 101,630,119	V258A	probably damaging	Het
S100a5	A	G	3: 90,611,574	I68V	probably benign	Het
Serpinb8	G	A	1: 107,602,918		probably null	Het
Slc24a4	T	C	12: 102,260,481	V492A	probably damaging	Het
Spag6l	T	A	16: 16,780,766	Q287L	probably damaging	Het
Synpo2	C	T	3: 123,079,734	W211*	probably null	Het
Tgtp1	A	G	11: 48,987,143	V245A	probably benign	Het
Tmem144	G	A	3: 79,839,273		probably benign	Het
Trerf1	A	G	17: 47,319,545		noncoding transcript	Het
Ttn	G	C	2: 76,846,704		probably benign	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Vps13d	A	T	4: 145,144,802	M1900K	probably benign	Het
Vps41	A	T	13: 18,853,440	D691V	probably damaging	Het
Zfp518b	T	C	5: 38,671,740	Y974C	probably damaging	Het
Zscan29	A	T	2: 121,166,733		probably benign	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
R0356:Prpf40b	UTSW	15	99305199	splice site	probably null
R0602:Prpf40b	UTSW	15	99304471	missense	unknown
R0632:Prpf40b	UTSW	15	99316289	missense	probably benign	0.04
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'- ACAGACCAGTCCTGACAGTGAGAC -3'
(R):5'- TCTGAGAACTAGGGGACCCTTGAAC -3'

Sequencing Primer
(F):5'- TGACAGTGAGACGGACCC -3'
(R):5'- GCAACCTTGAGAGGTGCTAAC -3'

Posted On

2013-04-16