Mutagenetix > Incidental Mutation

Incidental Mutation 'R3522:Cpsf4l'

267564

Institutional Source

Beutler Lab

Gene Symbol

Cpsf4l

Ensembl Gene

ENSMUSG00000018727

Gene Name

cleavage and polyadenylation specific factor 4-like

Synonyms

1500000C01Rik, D11Ertd636e, 0610010C04Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R3522 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113588998-113600843 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113593319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 88 (K88N)

Ref Sequence

ENSEMBL: ENSMUSP00000102228 (fasta)

Gene Model

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

AlphaFold

E9Q2N0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018871
AA Change: K88N

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000018871
Gene: ENSMUSG00000018727
AA Change: K88N

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 damaging
Transcript: ENSMUST00000100248
AA Change: K192N

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

SMART Domains

Protein: ENSMUSP00000097819
Gene: ENSMUSG00000018727
AA Change: K192N

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 damaging
Transcript: ENSMUST00000106617
AA Change: K88N

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

SMART Domains

Protein: ENSMUSP00000102228
Gene: ENSMUSG00000018727
AA Change: K88N

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 damaging
Transcript: ENSMUST00000173655
AA Change: K140N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000133451
Gene: ENSMUSG00000018727
AA Change: K140N

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

Meta Mutation Damage Score

0.1316

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd35	A	G	3: 96,592,378 (GRCm39)	E888G	probably damaging	Het
Arhgef10	T	C	8: 15,004,918 (GRCm39)	F150S	probably damaging	Het
Atp10d	G	T	5: 72,396,500 (GRCm39)	R235L	probably benign	Het
Cacna1b	A	G	2: 24,653,055 (GRCm39)	V2A	possibly damaging	Het
Cand1	A	T	10: 119,075,102 (GRCm39)	L15Q	probably benign	Het
Cavin3	C	A	7: 105,130,350 (GRCm39)	G154V	probably benign	Het
Ccdc73	A	T	2: 104,821,830 (GRCm39)	D593V	probably damaging	Het
Cdk5rap2	T	C	4: 70,168,647 (GRCm39)	K161E	probably damaging	Het
Chil4	A	T	3: 106,111,056 (GRCm39)	N279K	probably benign	Het
Chst13	T	G	6: 90,295,245 (GRCm39)	D56A	probably damaging	Het
Cnn1	C	A	9: 22,010,664 (GRCm39)	H5N	probably benign	Het
Ctnnbl1	G	T	2: 157,713,113 (GRCm39)		probably null	Het
Dnah7a	A	C	1: 53,657,275 (GRCm39)	F834V	probably damaging	Het
Fbxo41	A	G	6: 85,461,163 (GRCm39)	S182P	probably benign	Het
Fkbp5	T	C	17: 28,634,970 (GRCm39)	T180A	probably benign	Het
Flg2	T	A	3: 93,127,334 (GRCm39)	I2082N	unknown	Het
Gm4968	A	G	6: 127,210,725 (GRCm39)		noncoding transcript	Het
Gpc5	T	A	14: 116,761,747 (GRCm39)	H612Q	probably benign	Het
Gsg1	A	T	6: 135,218,251 (GRCm39)	V212D	probably damaging	Het
Hipk1	A	G	3: 103,651,430 (GRCm39)	V1111A	probably damaging	Het
Hormad1	A	T	3: 95,483,596 (GRCm39)	Q136L	probably benign	Het
Ifi35	T	A	11: 101,348,511 (GRCm39)	S147R	probably benign	Het
Iqca1l	A	G	5: 24,754,624 (GRCm39)		probably null	Het
Iqgap3	C	T	3: 87,998,089 (GRCm39)	A282V	probably null	Het
Jmy	T	C	13: 93,590,558 (GRCm39)	D515G	probably damaging	Het
Kctd10	G	A	5: 114,512,984 (GRCm39)	R64C	probably damaging	Het
Kidins220	T	C	12: 25,040,757 (GRCm39)	V121A	probably damaging	Het
Lcn3	G	A	2: 25,656,133 (GRCm39)	V63M	possibly damaging	Het
Lmx1b	T	A	2: 33,529,543 (GRCm39)	Y72F	probably benign	Het
Lrp1	T	C	10: 127,389,424 (GRCm39)	D3164G	probably damaging	Het
Mdh1b	C	T	1: 63,758,927 (GRCm39)	V222M	probably damaging	Het
Mst1	T	C	9: 107,958,702 (GRCm39)		probably benign	Het
Myo7b	C	A	18: 32,143,132 (GRCm39)	V189F	probably damaging	Het
Ndc1	T	C	4: 107,250,355 (GRCm39)	S533P	probably damaging	Het
Ndrg3	T	C	2: 156,785,947 (GRCm39)	D164G	probably damaging	Het
Nol11	C	T	11: 107,064,454 (GRCm39)	C500Y	possibly damaging	Het
Nsd3	A	G	8: 26,196,642 (GRCm39)	N1208D	probably benign	Het
Nup155	C	T	15: 8,186,162 (GRCm39)		probably benign	Het
Or5ak20	A	T	2: 85,183,347 (GRCm39)	C308S	probably benign	Het
Or6c38	A	G	10: 128,929,711 (GRCm39)	I44T	possibly damaging	Het
Or8b47	A	G	9: 38,435,081 (GRCm39)	T18A	probably damaging	Het
Or8b54	A	T	9: 38,687,016 (GRCm39)	D155V	possibly damaging	Het
Phf3	A	G	1: 30,844,684 (GRCm39)	L1425P	probably damaging	Het
Pla2r1	A	G	2: 60,279,250 (GRCm39)	Y777H	probably damaging	Het
Pld1	A	G	3: 28,085,396 (GRCm39)	E184G	probably damaging	Het
Plxna1	T	C	6: 89,314,335 (GRCm39)		probably null	Het
Ptgfrn	T	C	3: 100,950,718 (GRCm39)	E865G	probably damaging	Het
Ptpn13	G	T	5: 103,737,720 (GRCm39)		probably benign	Het
Pygb	G	T	2: 150,670,473 (GRCm39)	V763F	probably benign	Het
Ros1	A	C	10: 51,967,091 (GRCm39)	Y1705*	probably null	Het
Sec61a2	A	G	2: 5,898,027 (GRCm39)	F5L	probably benign	Het
Skint5	A	G	4: 113,614,102 (GRCm39)		probably null	Het
Sntg2	A	G	12: 30,362,566 (GRCm39)	V60A	probably damaging	Het
Sppl2a	A	G	2: 126,762,242 (GRCm39)	C280R	possibly damaging	Het
Srrm4	A	C	5: 116,584,603 (GRCm39)	M1R	probably null	Het
Sult1c2	T	C	17: 54,279,043 (GRCm39)	E91G	probably damaging	Het
Themis2	C	G	4: 132,512,906 (GRCm39)	R440P	probably damaging	Het
Tmem229a	A	G	6: 24,955,058 (GRCm39)	L232P	probably benign	Het
Trappc1	T	C	11: 69,215,248 (GRCm39)	F43L	probably damaging	Het
Trappc11	A	T	8: 47,951,708 (GRCm39)	Y982N	possibly damaging	Het
Trpv6	A	T	6: 41,604,339 (GRCm39)	M139K	probably damaging	Het
Txnrd3	A	G	6: 89,640,057 (GRCm39)		probably null	Het
Vmn1r184	T	A	7: 25,967,008 (GRCm39)	Y251*	probably null	Het
Vmn1r216	A	G	13: 23,283,544 (GRCm39)	N76D	possibly damaging	Het
Vmn1r71	C	A	7: 10,481,792 (GRCm39)	V233F	probably benign	Het
Vps13a	A	C	19: 16,743,857 (GRCm39)		probably benign	Het
Vwa5b2	A	G	16: 20,420,358 (GRCm39)	S756G	probably damaging	Het
Wdr36	T	A	18: 32,994,538 (GRCm39)		probably null	Het
Wdr86	A	G	5: 24,923,305 (GRCm39)	V129A	probably benign	Het
Zfyve9	A	G	4: 108,576,940 (GRCm39)	L47S	probably benign	Het

Other mutations in Cpsf4l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Cpsf4l	APN	11	113,600,044 (GRCm39)	intron	probably benign
IGL02132:Cpsf4l	APN	11	113,590,685 (GRCm39)	missense	possibly damaging	0.84
IGL02427:Cpsf4l	APN	11	113,600,324 (GRCm39)	utr 5 prime	probably benign
R0790:Cpsf4l	UTSW	11	113,597,234 (GRCm39)	splice site	probably benign
R1700:Cpsf4l	UTSW	11	113,592,901 (GRCm39)	missense	probably benign	0.17
R1909:Cpsf4l	UTSW	11	113,594,204 (GRCm39)	splice site	probably null
R4830:Cpsf4l	UTSW	11	113,600,328 (GRCm39)	utr 5 prime	probably benign
R6006:Cpsf4l	UTSW	11	113,590,753 (GRCm39)	missense	probably benign	0.23
R6229:Cpsf4l	UTSW	11	113,599,680 (GRCm39)	missense	possibly damaging	0.89
R6593:Cpsf4l	UTSW	11	113,600,192 (GRCm39)	intron	probably benign
R7107:Cpsf4l	UTSW	11	113,593,315 (GRCm39)	missense	possibly damaging	0.55
R7373:Cpsf4l	UTSW	11	113,590,657 (GRCm39)	splice site	probably null
R8517:Cpsf4l	UTSW	11	113,599,651 (GRCm39)	missense	probably benign	0.02
R8733:Cpsf4l	UTSW	11	113,600,279 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- CCTAGGGAGACACTTGCTAGATG -3'
(R):5'- TACCTGAGCCAAGGTCTCTG -3'

Sequencing Primer
(F):5'- GGAGACACTTGCTAGATGACCTC -3'
(R):5'- AAGGTCTCTGCCCCATCTG -3'

Posted On

2015-02-18