Mutagenetix > Incidental Mutation

Incidental Mutation 'R7268:Ctcfl'

565054

Institutional Source

Beutler Lab

Gene Symbol

Ctcfl

Ensembl Gene

ENSMUSG00000070495

Gene Name

CCCTC-binding factor like

Synonyms

Boris, OTTMUSG00000016680

MMRRC Submission

045319-MU

Accession Numbers

Essential gene?

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

Stock #

R7268 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

172935402-172961318 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 172949588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 415 (I415T)

Ref Sequence

ENSEMBL: ENSMUSP00000091845 (fasta)

Gene Model

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

AlphaFold

A2APF3

Predicted Effect

probably benign
Transcript: ENSMUST00000094287
AA Change: I415T

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000091845
Gene: ENSMUSG00000070495
AA Change: I415T

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

probably benign
Transcript: ENSMUST00000179693
AA Change: I415T

PolyPhen 2 Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000135932
Gene: ENSMUSG00000070495
AA Change: I415T

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

0.0746

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

99% (72/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	T	C	1: 156,461,509 (GRCm39)		probably null	Het
Acsf3	A	G	8: 123,517,401 (GRCm39)	Y399C	probably benign	Het
Acsm5	A	T	7: 119,136,511 (GRCm39)	T361S	probably benign	Het
Agap1	T	G	1: 89,694,070 (GRCm39)	I456S	probably benign	Het
Ahnak2	A	T	12: 112,780,802 (GRCm38)	V70E		Het
Alb	T	A	5: 90,610,575 (GRCm39)	S52T	probably benign	Het
Ankle1	A	G	8: 71,860,189 (GRCm39)	T256A	probably damaging	Het
Armt1	G	A	10: 4,400,855 (GRCm39)	V201M	possibly damaging	Het
Atp2a2	T	C	5: 122,605,792 (GRCm39)	T388A	probably benign	Het
Atp6v0a2	T	C	5: 124,796,930 (GRCm39)	L770P	probably damaging	Het
B4galnt3	A	T	6: 120,192,003 (GRCm39)	W578R	possibly damaging	Het
Babam2	T	C	5: 31,859,197 (GRCm39)	S2P	probably damaging	Het
Baz2a	A	G	10: 127,960,090 (GRCm39)	H1459R	possibly damaging	Het
Bbs7	C	T	3: 36,658,575 (GRCm39)	R233Q	probably benign	Het
Cacna2d1	G	A	5: 16,575,586 (GRCm39)	G1076R	probably damaging	Het
Camsap2	C	T	1: 136,201,483 (GRCm39)		probably null	Het
Car10	A	G	11: 93,490,077 (GRCm39)	N273D	probably benign	Het
Ccdc66	T	C	14: 27,208,880 (GRCm39)	D458G	probably benign	Het
Ccdc7a	T	A	8: 129,607,633 (GRCm39)	H982L	possibly damaging	Het
Col9a1	A	G	1: 24,246,479 (GRCm39)	K386E	possibly damaging	Het
Cyp3a16	G	C	5: 145,404,280 (GRCm39)	Y54*	probably null	Het
Dact2	T	C	17: 14,416,797 (GRCm39)	T468A	probably benign	Het
Dgkb	T	A	12: 38,197,554 (GRCm39)	L355*	probably null	Het
Dhx40	A	T	11: 86,697,442 (GRCm39)	C42S	possibly damaging	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dop1a	G	T	9: 86,394,830 (GRCm39)	E637*	probably null	Het
Dpp4	G	T	2: 62,178,186 (GRCm39)	P649T	probably damaging	Het
Eri3	T	A	4: 117,506,580 (GRCm39)	I303K	probably benign	Het
Foxi1	A	T	11: 34,155,783 (GRCm39)	Y282*	probably null	Het
Gdi2	T	A	13: 3,606,363 (GRCm39)	Y146*	probably null	Het
Gns	A	G	10: 121,212,557 (GRCm39)	Y173C	probably damaging	Het
Gpc1	C	A	1: 92,786,093 (GRCm39)	P494Q	possibly damaging	Het
Habp2	G	T	19: 56,302,518 (GRCm39)	G274V	probably damaging	Het
Hcfc2	T	A	10: 82,544,846 (GRCm39)	Y159*	probably null	Het
Hmcn2	T	A	2: 31,347,978 (GRCm39)	S4875T	possibly damaging	Het
Hmgcs2	A	G	3: 98,204,796 (GRCm39)	N318S	probably benign	Het
Lnpep	A	T	17: 17,758,803 (GRCm39)	M847K	probably benign	Het
Mmp16	A	C	4: 18,093,366 (GRCm39)	M374L	probably benign	Het
Mrpl38	A	G	11: 116,029,396 (GRCm39)	I40T	possibly damaging	Het
Ncstn	T	C	1: 171,908,830 (GRCm39)	T46A	possibly damaging	Het
Nlrp1a	C	T	11: 71,015,068 (GRCm39)	V61I	probably benign	Het
Npas2	G	T	1: 39,326,658 (GRCm39)	V48L	probably damaging	Het
Or13p5	A	G	4: 118,592,605 (GRCm39)	Y293C	probably damaging	Het
Or52ac1	G	A	7: 104,246,284 (GRCm39)	L35F	probably benign	Het
Or6c6	C	T	10: 129,187,263 (GRCm39)	T277I	possibly damaging	Het
Pcyox1	A	T	6: 86,368,713 (GRCm39)	N268K	possibly damaging	Het
Pramel14	A	T	4: 143,720,090 (GRCm39)		probably null	Het
Prr27	T	C	5: 87,991,135 (GRCm39)	L249P	probably damaging	Het
Psat1	A	T	19: 15,894,508 (GRCm39)	V168D	probably damaging	Het
Psg17	G	T	7: 18,548,586 (GRCm39)	T395K	possibly damaging	Het
Ptgis	A	G	2: 167,048,676 (GRCm39)	Y447H	probably benign	Het
Rad50	T	A	11: 53,575,102 (GRCm39)	N607I	probably benign	Het
Rps6ka2	T	C	17: 7,562,662 (GRCm39)	Y602H	possibly damaging	Het
Senp6	G	A	9: 80,049,406 (GRCm39)	R1010H	probably damaging	Het
Slc8a3	C	A	12: 81,361,827 (GRCm39)	D331Y	probably damaging	Het
Slc9c1	G	A	16: 45,370,479 (GRCm39)	S240N	probably damaging	Het
Slf1	A	G	13: 77,214,826 (GRCm39)	L620P	probably damaging	Het
Snx19	A	G	9: 30,351,473 (GRCm39)	E847G	probably damaging	Het
Spaca6	T	C	17: 18,052,369 (GRCm39)	V103A	probably benign	Het
Tbk1	A	G	10: 121,388,404 (GRCm39)	Y591H	probably benign	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Tfap2a	G	A	13: 40,882,236 (GRCm39)	T15I	possibly damaging	Het
Tgm2	G	A	2: 157,962,188 (GRCm39)	R544*	probably null	Het
Tmem116	T	A	5: 121,605,918 (GRCm39)	I90K		Het
Tmem30c	A	C	16: 57,086,777 (GRCm39)	L342R	probably damaging	Het
Trpm6	C	T	19: 18,755,949 (GRCm39)	T64I	probably benign	Het
Ttll8	A	G	15: 88,819,159 (GRCm39)		probably null	Het
Vcpip1	A	G	1: 9,816,307 (GRCm39)	I692T	probably damaging	Het
Vmn1r169	T	G	7: 23,276,853 (GRCm39)	F82V	probably benign	Het
Vmn1r178	G	A	7: 23,593,378 (GRCm39)	C142Y	probably benign	Het
Vmn2r16	T	A	5: 109,488,331 (GRCm39)	Y401*	probably null	Het
Wdr91	A	G	6: 34,869,375 (GRCm39)	V383A	probably benign	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
R0362:Ctcfl	UTSW	2	172,960,236 (GRCm39)	missense	probably damaging	0.99
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
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'- CTAAGATTAGCCACCAGAGGG -3'
(R):5'- TTGCTTGGGAAAGAAGCCCC -3'

Sequencing Primer
(F):5'- TCTAGAAAAGTTTCCCAGGCCAGG -3'
(R):5'- GGGAAAGAAGCCCCAACACAG -3'

Posted On

2019-06-26