Mutagenetix > Incidental Mutations

Incidental Mutation 'R4449:Prpf40b'

328905

Institutional Source

Beutler Lab

Gene Symbol

Prpf40b

Ensembl Gene

ENSMUSG00000023007

Gene Name

pre-mRNA processing factor 40B

Synonyms

2610317D23Rik

MMRRC Submission

041710-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.189) question?

Stock #

R4449 (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 99314663 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 596 (D596G)

Ref Sequence

ENSEMBL: ENSMUSP00000115869 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000023745
AA Change: D596G

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

SMART Domains

Protein: ENSMUSP00000023745
Gene: ENSMUSG00000023007
AA Change: D596G

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: D596G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113282
Gene: ENSMUSG00000023007
AA Change: D596G

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 damaging
Transcript: ENSMUST00000136980
AA Change: D583G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122649
Gene: ENSMUSG00000023007
AA Change: D583G

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 damaging
Transcript: ENSMUST00000145482
AA Change: D596G

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

SMART Domains

Protein: ENSMUSP00000115869
Gene: ENSMUSG00000023007
AA Change: D596G

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

0.6249

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

98% (47/48)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgap3	A	T	15: 83,334,558	Y105N	probably damaging	Het
Arid3b	T	A	9: 57,798,121	K266*	probably null	Het
Bend3	A	G	10: 43,512,083	E824G	possibly damaging	Het
Bpifb6	A	G	2: 153,906,768	E228G	possibly damaging	Het
Cadm1	T	A	9: 47,813,988		probably benign	Het
Cadm1	C	T	9: 47,530,437	A22V	possibly damaging	Het
Cntrob	C	A	11: 69,305,549	D687Y	probably benign	Het
Dap3	A	T	3: 88,949,878		probably benign	Het
Ddc	T	C	11: 11,835,802	D295G	probably damaging	Het
Fut10	T	A	8: 31,236,257	Y347N	probably damaging	Het
Galnt2	A	G	8: 124,295,377	D14G	probably benign	Het
Gm10722	A	C	9: 3,001,041	Y39S	probably benign	Het
Helz	T	C	11: 107,604,163	V321A	probably benign	Het
Hnrnpul1	T	C	7: 25,722,284		probably benign	Het
Hsdl2	T	A	4: 59,617,692	I353K	possibly damaging	Het
Igkv3-2	G	A	6: 70,698,841	A45T	probably benign	Het
Kcnh6	A	G	11: 106,018,936	Y429C	probably damaging	Het
Luzp1	T	A	4: 136,540,863	N132K	probably damaging	Het
Mlycd	T	A	8: 119,410,405	Y455N	probably damaging	Het
Myl7	C	T	11: 5,897,354	D115N	probably damaging	Het
Olfr593	A	T	7: 103,212,480	I196F	probably benign	Het
Pcdh7	A	G	5: 57,720,485	T461A	probably damaging	Het
Pi4kb	C	T	3: 94,984,735	S254L	probably benign	Het
Pitpnc1	A	G	11: 107,216,709	V257A	probably benign	Het
Rngtt	T	C	4: 33,330,865	F156S	probably damaging	Het
Sema3c	A	G	5: 17,576,846		probably benign	Het
Shisa6	T	C	11: 66,525,418	T183A	probably benign	Het
Skint3	T	A	4: 112,270,009	V287E	possibly damaging	Het
Slc15a4	A	G	5: 127,604,536		probably null	Het
Slc17a3	A	T	13: 23,856,732	S392C	probably damaging	Het
Snx14	T	C	9: 88,422,999	I81V	probably benign	Het
Tdrd6	C	T	17: 43,629,735	G141S	probably benign	Het
Trappc12	A	T	12: 28,747,235	D99E	probably benign	Het
Trim34b	T	C	7: 104,335,728	C318R	probably benign	Het
Ttc39a	T	C	4: 109,442,303	I449T	possibly damaging	Het
Twsg1	A	C	17: 65,926,310	V215G	possibly damaging	Het
Ubqlnl	C	T	7: 104,149,718	V191M	probably benign	Het
Ubr1	A	G	2: 120,946,381	V293A	possibly damaging	Het
Unk	G	A	11: 116,053,634	G404S	probably damaging	Het
Virma	T	C	4: 11,498,828		probably null	Het
Vps13b	T	C	15: 35,876,793	V2864A	possibly damaging	Het
Wdfy4	T	A	14: 33,096,083	R1492W	probably damaging	Het
Zcchc3	G	C	2: 152,414,722	P19R	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
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
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
X0019:Prpf40b	UTSW	15	99307703	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCTTGAACACCTTGCAG -3'
(R):5'- CTTCGAAAGGCAGCTTCTCTG -3'

Sequencing Primer
(F):5'- TGAACACCTTGCAGCCTGATC -3'
(R):5'- TTTTCCAGCAGCTGAAGGC -3'

Posted On

2015-07-21