Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01621:Prpf40b'

92627

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prpf40b

Ensembl Gene

ENSMUSG00000023007

Gene Name

pre-mRNA processing factor 40B

Synonyms

2610317D23Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

IGL01621

Quality Score

Status

Chromosome

Chromosomal Location

99295087-99317018 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 99310045 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119295 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023745] [ENSMUST00000118287] [ENSMUST00000128352] [ENSMUST00000136980] [ENSMUST00000140806] [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: 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

noncoding transcript
Transcript: ENSMUST00000124275

Predicted Effect

probably benign
Transcript: ENSMUST00000128352

SMART Domains

Protein: ENSMUSP00000119556
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

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: ENSMUST00000140806

SMART Domains

Protein: ENSMUSP00000121260
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	73	N/A	INTRINSIC

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

Coding Region Coverage

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	T	5: 63,898,383	T154I	possibly damaging	Het
4933434E20Rik	T	A	3: 90,064,502	M56K	possibly damaging	Het
5730559C18Rik	C	A	1: 136,219,775	A402S	probably damaging	Het
A730017C20Rik	A	G	18: 59,062,386	M1V	probably null	Het
Abca6	A	G	11: 110,184,708	L1319S	probably damaging	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
Aloxe3	A	G	11: 69,130,013	N188S	probably benign	Het
Ap1s1	G	A	5: 137,041,804	R119*	probably null	Het
Apc2	T	G	10: 80,306,201	L318R	probably damaging	Het
Atg101	A	G	15: 101,287,095	S33G	possibly damaging	Het
Atp8a2	A	T	14: 60,015,868		probably benign	Het
Bpifb9b	C	A	2: 154,316,951		probably null	Het
Braf	A	T	6: 39,646,853		probably benign	Het
Cabp5	A	G	7: 13,401,264	D43G	probably damaging	Het
Cfap46	T	C	7: 139,606,607	N2462S	unknown	Het
Cit	C	T	5: 115,992,603		probably benign	Het
Cpa4	T	C	6: 30,574,416	V68A	probably damaging	Het
Cyp2j5	T	C	4: 96,629,554	I474V	probably benign	Het
Dennd1a	C	A	2: 37,844,809	D49Y	probably damaging	Het
Dlg5	T	C	14: 24,148,221	D1525G	probably damaging	Het
Dnajc18	C	T	18: 35,680,840	R292H	probably benign	Het
Dync2h1	A	G	9: 7,140,897		probably null	Het
E2f6	A	G	12: 16,825,368	D268G	probably benign	Het
Evi2b	T	A	11: 79,516,300	T150S	probably damaging	Het
F13b	A	G	1: 139,503,851	D53G	probably benign	Het
Fbxo38	G	A	18: 62,522,524		probably benign	Het
Flnb	C	T	14: 7,950,470	P2596L	probably damaging	Het
Fyco1	A	G	9: 123,827,182		probably benign	Het
Gm13023	T	C	4: 143,793,932	F85L	probably benign	Het
Gm21759	A	G	5: 8,179,775		probably benign	Het
Gtse1	A	G	15: 85,875,082	N597S	probably benign	Het
Hcn3	G	T	3: 89,147,723	S739Y	probably damaging	Het
Ighv9-4	T	A	12: 114,299,992	N107I	probably damaging	Het
Iqub	T	C	6: 24,446,212	K738E	probably benign	Het
Itga6	A	T	2: 71,825,656	D308V	probably benign	Het
Klf12	T	C	14: 100,023,149	Y48C	probably damaging	Het
Klhdc9	A	G	1: 171,358,816	*351Q	probably null	Het
Krt40	A	T	11: 99,542,868	N97K	probably damaging	Het
Lrit1	A	C	14: 37,060,155	T262P	probably damaging	Het
Mcoln1	T	C	8: 3,510,910	Y411H	probably damaging	Het
Mfsd4a	A	G	1: 132,054,143	S149P	probably benign	Het
Mipep	A	G	14: 60,796,165		probably benign	Het
Mslnl	A	G	17: 25,743,667		probably benign	Het
N4bp2	A	T	5: 65,790,924	H299L	probably damaging	Het
Nbn	C	T	4: 15,965,221	P190S	probably benign	Het
Nos1	T	A	5: 117,945,884	I1253N	probably damaging	Het
Nup210	G	T	6: 91,030,117	F572L	probably damaging	Het
Olfr1381	T	C	11: 49,552,137	L130P	probably damaging	Het
Olfr370	T	C	8: 83,541,618	V158A	probably benign	Het
Olfr390	T	C	11: 73,787,277	F113S	probably damaging	Het
P4htm	T	A	9: 108,583,736	E106V	probably damaging	Het
Pcdhb20	C	T	18: 37,504,807	H129Y	possibly damaging	Het
Pdcd6ip	T	C	9: 113,685,422	E240G	probably benign	Het
Pex5l	T	C	3: 33,014,961		probably null	Het
Plcd1	T	C	9: 119,076,178	N181S	probably damaging	Het
Plekhg6	G	T	6: 125,372,099	L412M	probably damaging	Het
Ppp1r13b	T	A	12: 111,835,092	Q386L	possibly damaging	Het
Rdh11	C	T	12: 79,186,413		probably null	Het
Ripor3	A	T	2: 167,997,252	S110T	probably damaging	Het
Sec24d	G	A	3: 123,294,158		probably null	Het
Secisbp2l	T	C	2: 125,773,211	S165G	probably benign	Het
Shank1	C	T	7: 44,342,465	A698V	unknown	Het
Shank1	T	C	7: 44,351,599	M914T	unknown	Het
Slc22a3	T	C	17: 12,458,492	Q263R	probably benign	Het
Smc1a	C	A	X: 152,036,129	Q647K	probably damaging	Het
Sohlh1	A	G	2: 25,846,861		probably benign	Het
Tacc2	C	A	7: 130,729,768	T484K	probably damaging	Het
Ubr4	G	T	4: 139,440,783	E2825*	probably null	Het
Wbp2nl	G	A	15: 82,308,605	M163I	probably benign	Het
Zfp69	T	A	4: 120,931,500	K206M	probably damaging	Het
Zswim3	G	A	2: 164,821,520	R640H	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
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
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

Posted On

2013-12-09