Mutagenetix > Incidental Mutation

Incidental Mutation 'R5450:Prpf40a'

429255

Institutional Source

Beutler Lab

Gene Symbol

Prpf40a

Ensembl Gene

ENSMUSG00000061136

Gene Name

pre-mRNA processing factor 40A

Synonyms

Fnbp3, FBP11, 2810012K09Rik

MMRRC Submission

043015-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5450 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53134704-53191284 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 53156926 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 266 (T266N)

Ref Sequence

ENSEMBL: ENSMUSP00000075655 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076313] [ENSMUST00000125243] [ENSMUST00000209364] [ENSMUST00000209508] [ENSMUST00000210789] [ENSMUST00000211102] [ENSMUST00000211712]

AlphaFold

Q9R1C7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076313
AA Change: T266N

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000075655
Gene: ENSMUSG00000061136
AA Change: T266N

Domain	Start	End	E-Value	Type
low complexity region	77	124	N/A	INTRINSIC
WW	141	173	7.54e-13	SMART
WW	182	214	1.57e-10	SMART
low complexity region	272	294	N/A	INTRINSIC
FF	389	443	1.32e-17	SMART
FF	456	515	4.22e1	SMART
FF	523	583	1.11e-10	SMART
FF	603	663	4.31e0	SMART
low complexity region	670	682	N/A	INTRINSIC
FF	739	795	7.43e-12	SMART
low complexity region	802	879	N/A	INTRINSIC
low complexity region	883	923	N/A	INTRINSIC
low complexity region	929	939	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125243

SMART Domains

Protein: ENSMUSP00000117406
Gene: ENSMUSG00000061136

Domain	Start	End	E-Value	Type
low complexity region	35	82	N/A	INTRINSIC
WW	99	131	7.54e-13	SMART
WW	140	172	1.57e-10	SMART
low complexity region	230	252	N/A	INTRINSIC
FF	347	401	1.32e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000209364
AA Change: T239N

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000209508

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210789
AA Change: T224N

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000211102

Predicted Effect

probably benign
Transcript: ENSMUST00000211712

Meta Mutation Damage Score

0.0875

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (74/76)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
AF067063	A	T	13: 119,828,363	V99E	probably damaging	Het
Arhgef4	T	G	1: 34,807,324		probably benign	Het
Atg14	T	C	14: 47,551,464	N144S	probably benign	Het
Cacna1h	A	T	17: 25,383,186	M1454K	probably damaging	Het
Catsperb	A	T	12: 101,446,068	H138L	possibly damaging	Het
Ccdc129	T	A	6: 55,968,811		probably null	Het
Cd200r2	T	A	16: 44,909,571	D159E	probably benign	Het
Cd79a	G	T	7: 24,899,262	G79C	probably damaging	Het
Ceacam20	A	G	7: 19,978,208	H38R	possibly damaging	Het
Cers1	T	C	8: 70,318,297	L119P	probably damaging	Het
Ces1f	C	A	8: 93,265,795	V343L	probably benign	Het
Ces3a	G	A	8: 105,057,918	G511S	possibly damaging	Het
Cyfip2	A	G	11: 46,284,252	C98R	probably benign	Het
Cyp2j11	C	A	4: 96,339,876	V169L	probably benign	Het
Cyp4f17	A	G	17: 32,528,886	T523A	probably benign	Het
Ddx31	T	C	2: 28,886,969	S567P	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dsg1b	A	C	18: 20,409,064	H876P	probably damaging	Het
Edrf1	G	T	7: 133,658,610	M83I	probably damaging	Het
Eno4	T	C	19: 58,960,247	F393S	possibly damaging	Het
Eral1	C	T	11: 78,078,357	D106N	probably benign	Het
Esp18	G	T	17: 39,408,179	R23M	probably benign	Het
Fam184b	C	T	5: 45,539,801	V674I	probably benign	Het
Fbxw13	A	C	9: 109,184,157	N154K	probably benign	Het
Gtpbp6	A	G	5: 110,107,125	V130A	probably damaging	Het
Hc	T	C	2: 35,013,038	D1067G	possibly damaging	Het
Ighg1	A	T	12: 113,330,506	S6T	unknown	Het
Ikzf3	C	T	11: 98,467,086	R475H	probably damaging	Het
Kcmf1	A	T	6: 72,842,930	L311*	probably null	Het
Kmt2d	C	A	15: 98,855,086	E184D	probably damaging	Het
Lrguk	A	T	6: 34,071,061	I314F	probably damaging	Het
Maml2	A	C	9: 13,706,467	S370R	probably damaging	Het
Mroh1	C	A	15: 76,432,347		probably benign	Het
Mx1	A	T	16: 97,454,147	Y235*	probably null	Het
Olfr1269	A	G	2: 90,118,669	*310Q	probably null	Het
Pamr1	T	G	2: 102,639,317	Y403D	probably damaging	Het
Panx2	A	G	15: 89,068,959	E551G	possibly damaging	Het
Patl2	A	G	2: 122,125,281	V258A	probably benign	Het
Ppm1m	A	G	9: 106,196,842	F255L	probably benign	Het
Psg18	T	A	7: 18,353,425	I103F	probably benign	Het
Rpl39-ps	A	G	15: 102,635,148		noncoding transcript	Het
Rps6kb1	A	T	11: 86,532,837	F106I	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908		probably benign	Het
Sardh	G	T	2: 27,239,698	T245K	possibly damaging	Het
Shprh	T	G	10: 11,212,330	I1619S	possibly damaging	Het
Skint1	G	A	4: 112,025,532	V258I	probably benign	Het
Slc27a5	T	C	7: 12,994,942	D331G	probably benign	Het
Slc29a2	A	G	19: 5,029,275	I309V	probably benign	Het
Slc30a5	C	T	13: 100,821,172	V130I	possibly damaging	Het
Slc4a3	C	A	1: 75,552,656	A531D	probably damaging	Het
Slc6a16	C	T	7: 45,261,248	T399I	probably benign	Het
Slitrk6	T	A	14: 110,750,097	H726L	probably benign	Het
Snx2	A	G	18: 53,210,712	K309R	probably damaging	Het
Speer4f2	T	A	5: 17,373,219	C4S	possibly damaging	Het
Sulf1	T	C	1: 12,796,907	V105A	probably benign	Het
Tmem8b	G	A	4: 43,673,992	V208I	probably benign	Het
Vmn1r47	T	C	6: 90,022,213	L109P	probably damaging	Het
Vmn1r73	C	A	7: 11,756,449	Q65K	possibly damaging	Het
Vmn1r76	T	C	7: 11,930,684	Y166C	probably damaging	Het
Vmn2r2	T	C	3: 64,126,590	T504A	probably benign	Het
Wdr75	C	A	1: 45,812,164	A300E	probably benign	Het
Yars	A	G	4: 129,197,246	E149G	possibly damaging	Het
Zbtb18	T	C	1: 177,447,205	F35L	probably damaging	Het
Zfp366	A	G	13: 99,229,585	Y418C	probably damaging	Het

Other mutations in Prpf40a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Prpf40a	APN	2	53150688	missense	probably benign	0.00
IGL00533:Prpf40a	APN	2	53145343	missense	probably damaging	1.00
IGL01099:Prpf40a	APN	2	53141835	missense	probably benign	0.00
IGL02039:Prpf40a	APN	2	53144803	missense	probably damaging	1.00
IGL02608:Prpf40a	APN	2	53146153	missense	probably damaging	0.97
I1329:Prpf40a	UTSW	2	53176395	missense	probably benign	0.01
R0284:Prpf40a	UTSW	2	53150647	missense	probably damaging	1.00
R0401:Prpf40a	UTSW	2	53159313	missense	probably damaging	0.99
R0544:Prpf40a	UTSW	2	53141651	unclassified	probably benign
R0582:Prpf40a	UTSW	2	53145692	missense	probably damaging	1.00
R1533:Prpf40a	UTSW	2	53145840	missense	probably damaging	1.00
R2057:Prpf40a	UTSW	2	53144839	missense	probably damaging	1.00
R4274:Prpf40a	UTSW	2	53146172	missense	probably damaging	1.00
R4604:Prpf40a	UTSW	2	53142023	missense	probably damaging	0.99
R4814:Prpf40a	UTSW	2	53190020	missense	probably damaging	1.00
R4976:Prpf40a	UTSW	2	53144849	missense	probably damaging	1.00
R5119:Prpf40a	UTSW	2	53144849	missense	probably damaging	1.00
R5378:Prpf40a	UTSW	2	53145876	missense	probably damaging	1.00
R5448:Prpf40a	UTSW	2	53156926	missense	possibly damaging	0.63
R5449:Prpf40a	UTSW	2	53156926	missense	possibly damaging	0.63
R5500:Prpf40a	UTSW	2	53145284	missense	probably benign	0.03
R5637:Prpf40a	UTSW	2	53156734	missense	possibly damaging	0.59
R6052:Prpf40a	UTSW	2	53159281	missense	probably benign	0.41
R6149:Prpf40a	UTSW	2	53157915	missense	probably benign	0.07
R6150:Prpf40a	UTSW	2	53157915	missense	probably benign	0.07
R6151:Prpf40a	UTSW	2	53157915	missense	probably benign	0.07
R6162:Prpf40a	UTSW	2	53159305	missense	probably benign	0.01
R6199:Prpf40a	UTSW	2	53157915	missense	probably benign	0.07
R6200:Prpf40a	UTSW	2	53157915	missense	probably benign	0.07
R6207:Prpf40a	UTSW	2	53157915	missense	probably benign	0.07
R6254:Prpf40a	UTSW	2	53157915	missense	probably benign	0.07
R6266:Prpf40a	UTSW	2	53156627	missense	probably benign	0.17
R6394:Prpf40a	UTSW	2	53144878	missense	probably damaging	1.00
R6603:Prpf40a	UTSW	2	53152963	missense	probably damaging	0.96
R6606:Prpf40a	UTSW	2	53151751	missense	probably damaging	0.99
R6641:Prpf40a	UTSW	2	53141626	unclassified	probably benign
R6929:Prpf40a	UTSW	2	53144863	missense	possibly damaging	0.95
R7158:Prpf40a	UTSW	2	53152553	missense	probably damaging	0.99
R7401:Prpf40a	UTSW	2	53156947	missense	probably benign	0.01
R7675:Prpf40a	UTSW	2	53145636	missense	possibly damaging	0.89
R7750:Prpf40a	UTSW	2	53151745	missense	probably damaging	1.00
R7893:Prpf40a	UTSW	2	53156841	missense	probably benign	0.24
R8027:Prpf40a	UTSW	2	53191138	missense	probably benign	0.01
R8817:Prpf40a	UTSW	2	53152959	missense	probably damaging	0.99
R8829:Prpf40a	UTSW	2	53157915	missense	probably benign	0.07
R8964:Prpf40a	UTSW	2	53145894	missense	probably damaging	1.00
R9101:Prpf40a	UTSW	2	53145243	missense	probably benign	0.07
R9411:Prpf40a	UTSW	2	53139188	missense	unknown
R9699:Prpf40a	UTSW	2	53145723	missense	probably benign	0.02
X0060:Prpf40a	UTSW	2	53145664	missense	probably damaging	0.96
Z1176:Prpf40a	UTSW	2	53144875	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCTTCAGTTGATACAGTTACTG -3'
(R):5'- GTATTGAAATGACCAGTTCTCGTG -3'

Sequencing Primer
(F):5'- TGGAACACTTCCCACAGT -3'
(R):5'- GAAATGACCAGTTCTCGTGTTCTC -3'

Posted On

2016-09-06