Mutagenetix > Incidental Mutations

Incidental Mutation 'R6006:Cpsf4l'

479495

Institutional Source

Beutler Lab

Gene Symbol

Cpsf4l

Ensembl Gene

ENSMUSG00000018727

Gene Name

cleavage and polyadenylation specific factor 4-like

Synonyms

1500000C01Rik, 0610010C04Rik, D11Ertd636e

MMRRC Submission

044183-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R6006 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113698172-113710017 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113699927 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 199 (V199A)

Ref Sequence

ENSEMBL: ENSMUSP00000133451 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018871] [ENSMUST00000100248] [ENSMUST00000106617] [ENSMUST00000173655]

Predicted Effect

probably benign
Transcript: ENSMUST00000018871
AA Change: C134R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000018871
Gene: ENSMUSG00000018727
AA Change: C134R

Domain	Start	End	E-Value	Type
ZnF_C3H1	10	36	1.1e-2	SMART
ZnF_C3H1	38	64	4.64e-1	SMART
ZnF_C3H1	68	93	2.34e0	SMART
ZnF_C3H1	94	117	2.4e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000100248
AA Change: V251A

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000097819
Gene: ENSMUSG00000018727
AA Change: V251A

Domain	Start	End	E-Value	Type
low complexity region	62	74	N/A	INTRINSIC
ZnF_C3H1	89	114	3.38e-1	SMART
ZnF_C3H1	115	141	1.1e-2	SMART
ZnF_C3H1	143	169	4.64e-1	SMART
ZnF_C3H1	173	197	1.36e-2	SMART
ZnF_C3H1	198	221	5.21e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106617

SMART Domains

Protein: ENSMUSP00000102228
Gene: ENSMUSG00000018727

Domain	Start	End	E-Value	Type
ZnF_C3H1	10	36	1.1e-2	SMART
ZnF_C3H1	38	64	4.64e-1	SMART
ZnF_C3H1	68	93	2.34e0	SMART
ZnF_C3H1	94	117	5.21e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151396

Predicted Effect

probably benign
Transcript: ENSMUST00000173655
AA Change: V199A

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000133451
Gene: ENSMUSG00000018727
AA Change: V199A

Domain	Start	End	E-Value	Type
ZnF_C3H1	35	61	1.33e-1	SMART
ZnF_C3H1	62	88	1.1e-2	SMART
ZnF_C3H1	90	116	4.64e-1	SMART
ZnF_C3H1	120	145	2.34e0	SMART
ZnF_C3H1	146	169	5.21e-1	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.3%
20x: 91.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	A	G	8: 123,968,065	I296T	probably benign	Het
Abcb4	C	A	5: 8,946,026	T894K	probably damaging	Het
Acad12	C	T	5: 121,599,236	V491I	possibly damaging	Het
Actr8	T	A	14: 29,984,142		probably null	Het
Adam7	A	C	14: 68,511,396	D467E	probably damaging	Het
Adamts18	A	T	8: 113,706,974	C1043S	probably damaging	Het
Adgrb3	T	G	1: 25,826,531	D77A	possibly damaging	Het
Arhgap20	T	A	9: 51,850,126	D1056E	probably benign	Het
Bco1	A	G	8: 117,113,591		probably null	Het
Btn2a2	A	T	13: 23,486,363	W67R	probably damaging	Het
Camkmt	A	T	17: 85,452,238	N269Y	possibly damaging	Het
Cand1	A	G	10: 119,210,028	F991L	possibly damaging	Het
Cchcr1	A	G	17: 35,524,700	K234E	possibly damaging	Het
Cd14	T	C	18: 36,726,282	D40G	possibly damaging	Het
Cdc73	A	T	1: 143,617,439	F386I	probably damaging	Het
Cdk14	C	T	5: 5,249,211	M1I	probably null	Het
Cnpy3	A	C	17: 46,736,864	S220A	probably benign	Het
Col22a1	A	G	15: 71,973,836	V359A	probably damaging	Het
Col6a3	C	A	1: 90,768,383	C2654F	unknown	Het
Colgalt2	A	G	1: 152,473,161	T186A	probably damaging	Het
Dhtkd1	G	A	2: 5,904,025	Q753*	probably null	Het
Ep400	A	G	5: 110,704,959	S1307P	unknown	Het
Fer1l6	T	C	15: 58,647,044	V1675A	probably damaging	Het
Glis1	T	C	4: 107,567,906	L238P	probably damaging	Het
Gm35339	T	C	15: 76,357,172	V626A	probably damaging	Het
Iqgap3	T	A	3: 88,091,547	D318E	probably damaging	Het
Lats1	T	C	10: 7,705,595	F715L	probably damaging	Het
Mlxip	T	C	5: 123,445,658	F428S	possibly damaging	Het
Morc3	T	G	16: 93,866,493	I528R	possibly damaging	Het
Mtx1	C	T	3: 89,210,306	G60D	probably damaging	Het
Mug2	G	C	6: 122,083,500	Q1398H	probably null	Het
Mup8	T	C	4: 60,220,403	I110V	probably benign	Het
Nfkb1	A	T	3: 135,603,761	L12*	probably null	Het
Numa1	G	A	7: 101,992,719		probably null	Het
Olfr670	T	G	7: 104,960,663	E23A	probably damaging	Het
Pbk	C	T	14: 65,816,645	P213L	probably damaging	Het
Pdcd1lg2	T	A	19: 29,454,505	H224Q	possibly damaging	Het
Pkp1	C	G	1: 135,877,668		probably null	Het
Rela	A	G	19: 5,639,939	N139S	probably damaging	Het
Rgs3	G	A	4: 62,623,906	R39Q	probably damaging	Het
S1pr3	A	G	13: 51,419,695	E304G	probably damaging	Het
Sertad2	G	A	11: 20,647,884	G27S	probably benign	Het
Setmar	T	C	6: 108,076,426	S294P	possibly damaging	Het
Smc2	A	G	4: 52,459,024	N473S	probably benign	Het
Ssr1	TCTCTTTC	T	13: 37,985,996		probably null	Het
Tigd2	A	G	6: 59,210,777	I210V	possibly damaging	Het
Tmprss9	T	A	10: 80,883,721	F93L	possibly damaging	Het
Ttc30a1	A	G	2: 75,981,488	Y84H	probably benign	Het
U2surp	T	C	9: 95,479,307	Y633C	probably damaging	Het
Usp18	A	T	6: 121,262,822	E292V	possibly damaging	Het
Usp32	A	C	11: 84,992,451		probably null	Het
Utp18	T	C	11: 93,885,623	D12G	probably benign	Het
Vmn1r216	C	A	13: 23,099,758	H204N	probably benign	Het
Wwc1	A	T	11: 35,870,982	V619E	probably null	Het
Wwc1	T	C	11: 35,889,273	D285G	probably damaging	Het
Zfp3	A	T	11: 70,771,764	Q183L	probably benign	Het
Zfp955a	A	G	17: 33,241,686	C491R	probably damaging	Het

Other mutations in Cpsf4l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Cpsf4l	APN	11	113709218	intron	probably benign
IGL02132:Cpsf4l	APN	11	113699859	missense	possibly damaging	0.84
IGL02427:Cpsf4l	APN	11	113709498	utr 5 prime	probably benign
R0790:Cpsf4l	UTSW	11	113706408	splice site	probably benign
R1700:Cpsf4l	UTSW	11	113702075	missense	probably benign	0.17
R1909:Cpsf4l	UTSW	11	113703378	splice site	probably null
R3522:Cpsf4l	UTSW	11	113702493	missense	probably damaging	1.00
R4830:Cpsf4l	UTSW	11	113709502	utr 5 prime	probably benign
R6229:Cpsf4l	UTSW	11	113708854	missense	possibly damaging	0.89
R6593:Cpsf4l	UTSW	11	113709366	intron	probably benign
R7107:Cpsf4l	UTSW	11	113702489	missense	possibly damaging	0.55
R7373:Cpsf4l	UTSW	11	113699831	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- AATCAGGCCCTGTGTTCTC -3'
(R):5'- AACTTCTTCCAAGGCATACTTTTGG -3'

Sequencing Primer
(F):5'- CTCCGTTCACGTCCCTGAAC -3'
(R):5'- GTGTCTCTGTAACACGGT -3'

Posted On

2017-06-26