Mutagenetix > Incidental Mutation

Incidental Mutation 'R0362:Ctcfl'

36213

Institutional Source

Beutler Lab

Gene Symbol

Ctcfl

Ensembl Gene

ENSMUSG00000070495

Gene Name

CCCTC-binding factor like

Synonyms

Boris, OTTMUSG00000016680

MMRRC Submission

038568-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.284) question?

Stock #

R0362 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

172935402-172961318 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 172960236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 116 (W116R)

Ref Sequence

ENSEMBL: ENSMUSP00000135932 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094287] [ENSMUST00000179693]

AlphaFold

A2APF3

Predicted Effect

probably damaging
Transcript: ENSMUST00000094287
AA Change: W116R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091845
Gene: ENSMUSG00000070495
AA Change: W116R

Domain	Start	End	E-Value	Type
low complexity region	194	202	N/A	INTRINSIC
ZnF_C2H2	257	279	1.79e-2	SMART
ZnF_C2H2	285	307	1.07e0	SMART
ZnF_C2H2	313	336	4.47e-3	SMART
ZnF_C2H2	342	364	1.79e-2	SMART
ZnF_C2H2	370	392	5.81e-2	SMART
ZnF_C2H2	398	421	1.36e-2	SMART
ZnF_C2H2	428	451	6.23e-2	SMART
ZnF_C2H2	458	480	1.89e-1	SMART
ZnF_C2H2	486	508	8.94e-3	SMART
ZnF_C2H2	514	537	2.32e-1	SMART
ZnF_C2H2	546	572	5.2e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142165

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142207

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144256

Predicted Effect

probably damaging
Transcript: ENSMUST00000179693
AA Change: W116R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135932
Gene: ENSMUSG00000070495
AA Change: W116R

Domain	Start	End	E-Value	Type
low complexity region	194	202	N/A	INTRINSIC
ZnF_C2H2	257	279	1.79e-2	SMART
ZnF_C2H2	285	307	1.07e0	SMART
ZnF_C2H2	313	336	4.47e-3	SMART
ZnF_C2H2	342	364	1.79e-2	SMART
ZnF_C2H2	370	392	5.81e-2	SMART
ZnF_C2H2	398	421	1.36e-2	SMART
ZnF_C2H2	428	451	6.23e-2	SMART
ZnF_C2H2	458	480	1.89e-1	SMART
ZnF_C2H2	486	508	8.94e-3	SMART
ZnF_C2H2	514	537	2.32e-1	SMART
ZnF_C2H2	546	572	5.2e0	SMART

Meta Mutation Damage Score

0.1158

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.8%
20x: 94.0%

Validation Efficiency

99% (104/105)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CCCTC-binding factor (CTCF), an 11-zinc-finger factor involved in gene regulation, utilizes different zinc fingers to bind varying DNA target sites. CTCF forms methylation-sensitive insulators that regulate X-chromosome inactivation. This gene is a paralog of CTCF and appears to be expressed primarily in the cytoplasm of spermatocytes, unlike CTCF which is expressed primarily in the nucleus of somatic cells. CTCF and the protein encoded by this gene are normally expressed in a mutually exclusive pattern that correlates with resetting of methylation marks during male germ cell differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit small testes, delayed spermatid development, and increased male germ cell apoptosis without affecting fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,563,261 (GRCm39)	Q401R	probably benign	Het
Acp3	A	G	9: 104,191,626 (GRCm39)	F220S	probably damaging	Het
Adam7	A	G	14: 68,747,105 (GRCm39)		probably benign	Het
Adamts6	A	G	13: 104,526,584 (GRCm39)		probably null	Het
Ascc3	T	C	10: 50,625,051 (GRCm39)		probably benign	Het
Atg10	T	C	13: 91,189,109 (GRCm39)		probably null	Het
Atm	T	C	9: 53,370,138 (GRCm39)	I2325V	possibly damaging	Het
Btnl9	C	T	11: 49,060,443 (GRCm39)	R435H	possibly damaging	Het
Ccdc180	A	G	4: 45,923,551 (GRCm39)	K1111E	probably damaging	Het
Ciao2b	T	C	8: 105,368,222 (GRCm39)	D34G	probably null	Het
Col11a2	T	A	17: 34,281,420 (GRCm39)		probably null	Het
Ctsk	A	T	3: 95,408,255 (GRCm39)	Y37F	probably damaging	Het
Daam2	G	C	17: 49,787,813 (GRCm39)		probably null	Het
Dcdc2b	T	C	4: 129,504,031 (GRCm39)		probably null	Het
Ddx28	C	T	8: 106,737,926 (GRCm39)	R44Q	probably damaging	Het
Dhx29	T	A	13: 113,099,393 (GRCm39)	N1139K	probably benign	Het
Dnah17	A	T	11: 117,989,365 (GRCm39)	M1281K	probably benign	Het
Dnah6	T	C	6: 73,185,592 (GRCm39)	S110G	probably benign	Het
Drc7	T	C	8: 95,799,483 (GRCm39)	Y553H	probably benign	Het
Dync2h1	T	C	9: 7,005,487 (GRCm39)		probably null	Het
Ecm1	A	G	3: 95,644,369 (GRCm39)	I152T	possibly damaging	Het
Edc4	C	G	8: 106,613,407 (GRCm39)	P307R	probably damaging	Het
Eeig2	C	T	3: 108,887,497 (GRCm39)	E256K	probably benign	Het
Egr1	A	G	18: 34,996,366 (GRCm39)	T383A	possibly damaging	Het
Eml2	A	G	7: 18,924,731 (GRCm39)		probably null	Het
Eno4	A	G	19: 58,932,056 (GRCm39)		probably benign	Het
Erbb4	A	T	1: 68,369,429 (GRCm39)	I404K	probably damaging	Het
Exoc7	G	T	11: 116,186,488 (GRCm39)	T310K	probably benign	Het
Fam83e	G	T	7: 45,376,393 (GRCm39)	V369L	probably benign	Het
Fancc	A	T	13: 63,545,970 (GRCm39)	I91K	possibly damaging	Het
Fbn1	T	C	2: 125,151,697 (GRCm39)	Q2519R	probably damaging	Het
Fhod3	T	A	18: 25,223,133 (GRCm39)	C826*	probably null	Het
Foxi3	A	G	6: 70,933,612 (GRCm39)	D33G	probably benign	Het
Gcn1	T	C	5: 115,714,167 (GRCm39)		probably benign	Het
Gm14221	T	C	2: 160,410,310 (GRCm39)		noncoding transcript	Het
Golga4	T	A	9: 118,384,853 (GRCm39)	H630Q	probably benign	Het
Gpat4	T	C	8: 23,670,949 (GRCm39)	S88G	probably benign	Het
Gucy2d	A	T	7: 98,092,892 (GRCm39)	S90C	probably damaging	Het
Has2	A	C	15: 56,545,057 (GRCm39)	C182G	probably damaging	Het
Heatr5a	A	T	12: 51,935,644 (GRCm39)	S1647R	probably damaging	Het
Ifi35	T	C	11: 101,348,038 (GRCm39)	V48A	probably benign	Het
Lig1	T	A	7: 13,030,730 (GRCm39)		probably benign	Het
Magi2	A	G	5: 19,432,573 (GRCm39)	K96R	probably damaging	Het
Map7d1	G	T	4: 126,128,787 (GRCm39)	P462Q	probably damaging	Het
Mdn1	A	T	4: 32,746,439 (GRCm39)		probably null	Het
Mfsd4a	A	T	1: 131,987,013 (GRCm39)	V105E	probably damaging	Het
Mrpl53	C	T	6: 83,086,526 (GRCm39)	R77C	probably damaging	Het
Mtnr1b	C	T	9: 15,785,600 (GRCm39)	V53M	probably damaging	Het
Myo9b	T	C	8: 71,800,414 (GRCm39)	W990R	probably damaging	Het
Myt1	A	T	2: 181,405,186 (GRCm39)		probably benign	Het
Nf1	C	T	11: 79,427,704 (GRCm39)	A1766V	probably damaging	Het
Nlrp3	T	C	11: 59,439,623 (GRCm39)	V400A	possibly damaging	Het
Nup205	T	A	6: 35,173,649 (GRCm39)		probably null	Het
Nxf1	T	C	19: 8,741,515 (GRCm39)		probably null	Het
Or7a36	A	T	10: 78,820,220 (GRCm39)	M199L	probably benign	Het
P4hb	T	C	11: 120,454,162 (GRCm39)	K311E	probably benign	Het
Pafah1b1	T	C	11: 74,574,457 (GRCm39)	N243S	probably benign	Het
Parp8	G	A	13: 117,061,504 (GRCm39)	Q141*	probably null	Het
Pkd2l2	A	C	18: 34,568,380 (GRCm39)	D543A	probably benign	Het
Pld5	A	T	1: 175,803,146 (GRCm39)	L311*	probably null	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Plpp5	A	T	8: 26,214,219 (GRCm39)	T144S	probably benign	Het
Ppp6r3	A	G	19: 3,528,285 (GRCm39)	L542S	probably damaging	Het
Prkar2b	A	T	12: 32,037,973 (GRCm39)		probably null	Het
Psmg1	A	T	16: 95,789,171 (GRCm39)	S129T	possibly damaging	Het
Radil	T	C	5: 142,529,582 (GRCm39)	D38G	probably benign	Het
Ric1	T	C	19: 29,578,411 (GRCm39)		probably null	Het
Rp1l1	T	A	14: 64,268,515 (GRCm39)	L1367*	probably null	Het
Rxfp1	A	T	3: 79,645,100 (GRCm39)	M1K	probably null	Het
Serpina6	G	T	12: 103,618,208 (GRCm39)	L202I	probably damaging	Het
Simc1	T	C	13: 54,676,280 (GRCm39)	I98T	probably damaging	Het
Slc17a6	A	G	7: 51,308,519 (GRCm39)	Y281C	probably damaging	Het
Slc26a11	T	A	11: 119,270,767 (GRCm39)		probably benign	Het
Slc34a1	T	A	13: 55,550,711 (GRCm39)		probably null	Het
Slfn10-ps	T	A	11: 82,926,600 (GRCm39)		noncoding transcript	Het
Sohlh2	A	G	3: 55,115,163 (GRCm39)	N383D	probably damaging	Het
Spag6	T	A	2: 18,715,302 (GRCm39)	L27H	probably damaging	Het
Sptlc3	A	G	2: 139,388,475 (GRCm39)		probably benign	Het
St3gal4	T	A	9: 34,964,469 (GRCm39)	K199*	probably null	Het
Stat5a	T	A	11: 100,772,909 (GRCm39)	D712E	probably benign	Het
Stmn2	A	T	3: 8,610,750 (GRCm39)	D78V	probably damaging	Het
Stpg1	C	T	4: 135,233,777 (GRCm39)	P20S	possibly damaging	Het
Taf2	A	T	15: 54,909,325 (GRCm39)	V640E	probably damaging	Het
Tbce	T	C	13: 14,172,747 (GRCm39)	E501G	probably benign	Het
Tecpr2	A	G	12: 110,935,374 (GRCm39)	S1398G	probably damaging	Het
Tenm4	T	A	7: 96,421,242 (GRCm39)	Y598*	probably null	Het
Ticrr	A	G	7: 79,327,088 (GRCm39)	S599G	probably damaging	Het
Tnc	A	C	4: 63,935,679 (GRCm39)	V419G	probably damaging	Het
Trappc1	C	A	11: 69,216,402 (GRCm39)	P110T	probably benign	Het
Trbv12-2	C	T	6: 41,095,993 (GRCm39)		probably benign	Het
Ttbk2	A	T	2: 120,576,264 (GRCm39)	N835K	possibly damaging	Het
Tubgcp5	A	G	7: 55,450,432 (GRCm39)	D181G	probably damaging	Het
Tut1	T	C	19: 8,932,891 (GRCm39)	Y75H	possibly damaging	Het
Ulk2	C	A	11: 61,678,412 (GRCm39)	C769F	probably benign	Het
Vdac1	T	C	11: 52,265,800 (GRCm39)		probably benign	Het
Vmn2r124	T	C	17: 18,284,486 (GRCm39)		probably null	Het
Vps8	T	C	16: 21,426,977 (GRCm39)		probably benign	Het
Wdr35	T	C	12: 9,045,625 (GRCm39)		probably benign	Het
Zdhhc7	T	A	8: 120,813,386 (GRCm39)	E141V	probably null	Het
Zfp12	C	A	5: 143,230,978 (GRCm39)	S435Y	probably damaging	Het
Zfp974	A	T	7: 27,626,819 (GRCm39)		probably benign	Het
Zfyve9	T	A	4: 108,538,166 (GRCm39)	K1033N	probably damaging	Het
Zswim8	T	A	14: 20,772,013 (GRCm39)	S1572T	possibly damaging	Het

Other mutations in Ctcfl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01344:Ctcfl	APN	2	172,936,527 (GRCm39)	missense	possibly damaging	0.82
IGL01418:Ctcfl	APN	2	172,960,124 (GRCm39)	missense	probably benign	0.03
IGL01524:Ctcfl	APN	2	172,959,177 (GRCm39)	missense	probably benign	0.08
IGL02610:Ctcfl	APN	2	172,947,819 (GRCm39)	splice site	probably benign
IGL02961:Ctcfl	APN	2	172,943,712 (GRCm39)	missense	possibly damaging	0.70
BB001:Ctcfl	UTSW	2	172,955,449 (GRCm39)	missense	possibly damaging	0.71
BB011:Ctcfl	UTSW	2	172,955,449 (GRCm39)	missense	possibly damaging	0.71
R0147:Ctcfl	UTSW	2	172,960,340 (GRCm39)	missense	possibly damaging	0.75
R0148:Ctcfl	UTSW	2	172,960,340 (GRCm39)	missense	possibly damaging	0.75
R1099:Ctcfl	UTSW	2	172,954,153 (GRCm39)	missense	probably damaging	1.00
R1540:Ctcfl	UTSW	2	172,954,141 (GRCm39)	missense	probably benign	0.36
R1892:Ctcfl	UTSW	2	172,960,478 (GRCm39)	missense	probably benign	0.24
R2036:Ctcfl	UTSW	2	172,943,778 (GRCm39)	missense	possibly damaging	0.95
R2060:Ctcfl	UTSW	2	172,960,299 (GRCm39)	missense	probably benign	0.00
R2925:Ctcfl	UTSW	2	172,936,489 (GRCm39)	missense	probably damaging	1.00
R4327:Ctcfl	UTSW	2	172,955,299 (GRCm39)	intron	probably benign
R4837:Ctcfl	UTSW	2	172,955,449 (GRCm39)	missense	probably benign	0.00
R4894:Ctcfl	UTSW	2	172,959,196 (GRCm39)	missense	probably benign	0.19
R4909:Ctcfl	UTSW	2	172,937,191 (GRCm39)	missense	probably benign	0.42
R5128:Ctcfl	UTSW	2	172,959,189 (GRCm39)	missense	probably benign	0.00
R5247:Ctcfl	UTSW	2	172,955,402 (GRCm39)	missense	probably damaging	1.00
R6263:Ctcfl	UTSW	2	172,937,130 (GRCm39)	missense	probably benign	0.00
R6768:Ctcfl	UTSW	2	172,959,084 (GRCm39)	missense	possibly damaging	0.84
R7045:Ctcfl	UTSW	2	172,954,167 (GRCm39)	missense	probably damaging	1.00
R7180:Ctcfl	UTSW	2	172,947,770 (GRCm39)	splice site	probably null
R7256:Ctcfl	UTSW	2	172,960,268 (GRCm39)	missense	probably benign	0.01
R7268:Ctcfl	UTSW	2	172,949,588 (GRCm39)	missense	probably benign	0.26
R7378:Ctcfl	UTSW	2	172,954,051 (GRCm39)	missense	probably damaging	1.00
R7560:Ctcfl	UTSW	2	172,960,199 (GRCm39)	missense	probably damaging	0.96
R7657:Ctcfl	UTSW	2	172,955,449 (GRCm39)	missense	possibly damaging	0.71
R7733:Ctcfl	UTSW	2	172,958,985 (GRCm39)	missense	probably benign
R7924:Ctcfl	UTSW	2	172,955,449 (GRCm39)	missense	possibly damaging	0.71
R7945:Ctcfl	UTSW	2	172,960,451 (GRCm39)	missense	probably benign
R8022:Ctcfl	UTSW	2	172,960,559 (GRCm39)	missense	probably benign	0.15
R8038:Ctcfl	UTSW	2	172,943,698 (GRCm39)	missense	probably damaging	1.00
R8911:Ctcfl	UTSW	2	172,937,121 (GRCm39)	critical splice donor site	probably null
R9031:Ctcfl	UTSW	2	172,959,044 (GRCm39)	missense	probably benign	0.07
R9358:Ctcfl	UTSW	2	172,960,581 (GRCm39)	start codon destroyed	possibly damaging	0.81
R9401:Ctcfl	UTSW	2	172,947,881 (GRCm39)	missense	probably damaging	0.99
R9490:Ctcfl	UTSW	2	172,960,548 (GRCm39)	missense	probably benign	0.00
Z1088:Ctcfl	UTSW	2	172,960,137 (GRCm39)	missense	probably benign	0.01
Z1177:Ctcfl	UTSW	2	172,943,829 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATCCCACAAGGCATCAGTGTGTAAG -3'
(R):5'- GGGTACTTCACCCAGATCAAAGAGC -3'

Sequencing Primer
(F):5'- TGTAAGAACGATGCACCGTACC -3'
(R):5'- CGAGAACAGTTGCCTGCTTC -3'

Posted On

2013-05-09