Mutagenetix > Incidental Mutation

Incidental Mutation 'R6776:Prpf40b'

531320

Institutional Source

Beutler Lab

Gene Symbol

Prpf40b

Ensembl Gene

ENSMUSG00000023007

Gene Name

pre-mRNA processing factor 40B

Synonyms

2610317D23Rik

MMRRC Submission

044892-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.201) question?

Stock #

R6776 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99295087-99317018 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 99314903 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 627 (R627W)

Ref Sequence

ENSEMBL: ENSMUSP00000023745 (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 damaging
Transcript: ENSMUST00000023745
AA Change: R627W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023745
Gene: ENSMUSG00000023007
AA Change: R627W

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 damaging
Transcript: ENSMUST00000118287
AA Change: R627W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113282
Gene: ENSMUSG00000023007
AA Change: R627W

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

unknown
Transcript: ENSMUST00000134034
AA Change: R9W

SMART Domains

Protein: ENSMUSP00000120030
Gene: ENSMUSG00000023007
AA Change: R9W

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 damaging
Transcript: ENSMUST00000136980
AA Change: R614W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122649
Gene: ENSMUSG00000023007
AA Change: R614W

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

probably damaging
Transcript: ENSMUST00000145482
AA Change: R627W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115869
Gene: ENSMUSG00000023007
AA Change: R627W

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: ENSMUST00000153692

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138036

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139330

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150641

Meta Mutation Damage Score

0.4298

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500015O10Rik	C	A	1: 43,742,391	N144K	probably damaging	Het
2900011O08Rik	T	A	16: 13,986,806	S6T	possibly damaging	Het
Abhd13	A	G	8: 9,988,075	H224R	probably benign	Het
Anapc10	T	C	8: 79,719,745	F68S	probably damaging	Het
Arid2	A	G	15: 96,370,949	N981S	probably benign	Het
BC055324	T	C	1: 163,976,749	I338M	probably damaging	Het
Cfap73	A	G	5: 120,634,211	F9L	probably damaging	Het
Chd3	A	C	11: 69,354,470	L1141V	probably damaging	Het
Daam1	C	T	12: 71,989,808	L1052F	possibly damaging	Het
Dmxl1	C	T	18: 49,893,974	R2050C	probably damaging	Het
Dpp10	G	A	1: 123,367,656	Q552*	probably null	Het
Dysf	A	G	6: 84,064,894	D160G	possibly damaging	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,075,965		probably benign	Het
Ftcd	T	C	10: 76,589,239	I518T	probably benign	Het
Gapdh	A	G	6: 125,162,273	S248P	probably damaging	Het
Gm5592	C	G	7: 41,289,729	P812A	probably damaging	Het
Grik2	G	A	10: 49,355,989	L482F	probably damaging	Het
Gzmg	C	T	14: 56,156,831	G202D	probably damaging	Het
Hectd4	G	A	5: 121,353,511	A3671T	possibly damaging	Het
Hexa	G	T	9: 59,558,072	W203C	probably damaging	Het
Igdcc4	A	T	9: 65,135,418	T1217S	probably benign	Het
Ipo7	A	G	7: 110,047,065	D557G	probably damaging	Het
Irx3	T	A	8: 91,799,835	T414S	probably benign	Het
Jakmip1	G	A	5: 37,187,154	E1313K	probably damaging	Het
Kbtbd12	T	C	6: 88,618,266	D194G	probably damaging	Het
Klk6	T	C	7: 43,826,874	L46P	probably damaging	Het
Krt86	T	C	15: 101,476,936	I329T	probably benign	Het
Mroh5	A	G	15: 73,789,968		probably null	Het
Mtrf1	T	C	14: 79,413,081	V323A	probably damaging	Het
Oas3	A	T	5: 120,758,874	I894N	probably damaging	Het
Oplah	C	T	15: 76,300,853	V887I	possibly damaging	Het
Pag1	T	C	3: 9,699,788	T102A	probably benign	Het
Pcnx	C	T	12: 81,962,722	A1181V	possibly damaging	Het
Pkdrej	G	T	15: 85,817,309	Y1475*	probably null	Het
Pla2g5	A	G	4: 138,800,653	S101P	probably benign	Het
Plekha4	C	A	7: 45,534,817	A76E	probably damaging	Het
Plk2	T	C	13: 110,399,791	I592T	probably benign	Het
Ppp2r3a	A	T	9: 101,212,862	H87Q	probably benign	Het
Ppp2r3c	T	A	12: 55,298,467	R79*	probably null	Het
Prrt4	G	T	6: 29,176,552	T258K	possibly damaging	Het
Rhpn2	T	A	7: 35,383,769		probably null	Het
Slc11a1	T	A	1: 74,384,085	I365N	probably damaging	Het
Slc7a7	C	T	14: 54,374,651	G265D	possibly damaging	Het
Thsd7a	T	A	6: 12,555,637	T83S	possibly damaging	Het
Tln2	A	G	9: 67,262,905	S1989P	probably damaging	Het
Tnfaip3	T	G	10: 19,005,576	T321P	probably benign	Het
Tnrc6b	C	T	15: 80,924,119	P1623L	possibly damaging	Het
Trpa1	T	C	1: 14,912,377	N85S	probably benign	Het
Trrap	C	T	5: 144,851,256	R3544*	probably null	Het
Ttf2	A	T	3: 100,952,553	V695E	probably benign	Het
Ttll4	A	G	1: 74,681,353	E509G	probably damaging	Het
Vdr	T	C	15: 97,869,828	I94V	probably damaging	Het
Wdfy3	G	T	5: 101,884,045	Q2304K	possibly damaging	Het
Zfp663	T	C	2: 165,359,015	Y33C	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
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
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'- TGGGTGGTCCTCTCACTTAC -3'
(R):5'- AGAGCACTGCTGATCAGACC -3'

Sequencing Primer
(F):5'- GTGGTCCTCTCACTTACCCCAATG -3'
(R):5'- ACTGCTGATCAGACCAGGCC -3'

Posted On

2018-08-29