Mutagenetix > Incidental Mutation

Incidental Mutation 'R2091:Gcfc2'

323552

Institutional Source

Beutler Lab

Gene Symbol

Gcfc2

Ensembl Gene

ENSMUSG00000035125

Gene Name

GC-rich sequence DNA binding factor 2

Synonyms

AW146020

MMRRC Submission

040096-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.479) question?

Stock #

R2091 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81900650-81936896 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81920460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 415 (E415G)

Ref Sequence

ENSEMBL: ENSMUSP00000035644 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043195] [ENSMUST00000152996]

AlphaFold

Q8BKT3

Predicted Effect

probably damaging
Transcript: ENSMUST00000043195
AA Change: E415G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035644
Gene: ENSMUSG00000035125
AA Change: E415G

Domain	Start	End	E-Value	Type
low complexity region	16	24	N/A	INTRINSIC
low complexity region	43	66	N/A	INTRINSIC
low complexity region	97	111	N/A	INTRINSIC
low complexity region	164	175	N/A	INTRINSIC
low complexity region	193	210	N/A	INTRINSIC
coiled coil region	255	308	N/A	INTRINSIC
low complexity region	392	406	N/A	INTRINSIC
Pfam:GCFC	456	672	3e-34	PFAM
low complexity region	753	763	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127949

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132301

Predicted Effect

probably benign
Transcript: ENSMUST00000152996

SMART Domains

Protein: ENSMUSP00000138136
Gene: ENSMUSG00000035125

Domain	Start	End	E-Value	Type
low complexity region	16	24	N/A	INTRINSIC
low complexity region	43	66	N/A	INTRINSIC
low complexity region	97	111	N/A	INTRINSIC
low complexity region	164	175	N/A	INTRINSIC
low complexity region	193	210	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203959

Meta Mutation Damage Score

0.8755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

96% (55/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The first mRNA transcript isolated for this gene was part of an artificial chimera derived from two distinct gene transcripts and a primer used in the cloning process (see Genbank accession M29204). A positively charged amino terminus present only in the chimera was determined to bind GC-rich DNA, thus mistakenly thought to identify a transcription factor gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	G	C	2: 19,522,357 (GRCm39)	N247K	probably damaging	Het
4930402F06Rik	T	C	2: 35,266,079 (GRCm39)	K197R	probably benign	Het
AA986860	T	C	1: 130,670,906 (GRCm39)	L376P	probably benign	Het
Adamts10	T	C	17: 33,770,166 (GRCm39)		probably null	Het
Adamts7	T	C	9: 90,070,493 (GRCm39)		probably null	Het
Adgrl1	T	C	8: 84,661,093 (GRCm39)	I862T	probably damaging	Het
Agbl1	G	A	7: 76,239,248 (GRCm39)	V583M	probably damaging	Het
Apba2	T	A	7: 64,345,341 (GRCm39)	V177D	probably benign	Het
Arfgap2	A	G	2: 91,100,586 (GRCm39)	K297R	probably benign	Het
Armh3	A	T	19: 45,941,119 (GRCm39)	L300Q	probably damaging	Het
Atg14	A	T	14: 47,780,352 (GRCm39)	I474N	probably damaging	Het
Atp2b4	C	A	1: 133,642,968 (GRCm39)	V1046F	probably benign	Het
Best1	A	G	19: 9,969,443 (GRCm39)	V205A	probably benign	Het
Bicdl1	A	G	5: 115,862,638 (GRCm39)	S206P	probably damaging	Het
Bltp1	T	C	3: 37,008,119 (GRCm39)	V1725A	probably damaging	Het
Bltp1	C	T	3: 37,042,405 (GRCm39)	T2797I	probably damaging	Het
Cacna1h	C	T	17: 25,651,850 (GRCm39)	C98Y	possibly damaging	Het
Calhm3	T	A	19: 47,140,430 (GRCm39)	D221V	probably damaging	Het
Ccdc93	T	A	1: 121,411,071 (GRCm39)		probably null	Het
Cd248	A	T	19: 5,120,074 (GRCm39)	I641F	possibly damaging	Het
Chrnb3	C	T	8: 27,884,262 (GRCm39)	T333M	probably damaging	Het
Cyb5rl	A	G	4: 106,928,203 (GRCm39)	H113R	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Ddx59	T	A	1: 136,344,447 (GRCm39)	D39E	probably benign	Het
Defa5	A	G	8: 21,787,513 (GRCm39)	D20G	probably damaging	Het
Dido1	A	T	2: 180,303,677 (GRCm39)	V1409E	probably benign	Het
Dlc1	A	T	8: 37,404,763 (GRCm39)	V342E	probably benign	Het
Dsc2	G	A	18: 20,166,351 (GRCm39)	T760I	possibly damaging	Het
Dync1h1	A	G	12: 110,616,022 (GRCm39)	I3057V	probably benign	Het
Etnk2	T	G	1: 133,304,791 (GRCm39)		probably null	Het
Fbp2	G	T	13: 63,006,021 (GRCm39)	L31I	probably damaging	Het
Gbp7	A	T	3: 142,240,383 (GRCm39)	I34F	probably damaging	Het
Glp1r	T	C	17: 31,144,523 (GRCm39)	L232P	probably damaging	Het
Gm10822	A	G	2: 73,729,619 (GRCm39)		noncoding transcript	Het
Gm42669	G	A	5: 107,655,776 (GRCm39)	V1192M	probably benign	Het
Gpr37	A	G	6: 25,689,062 (GRCm39)	S12P	possibly damaging	Het
Gpt	A	G	15: 76,582,176 (GRCm39)	E211G	possibly damaging	Het
Grxcr1	T	C	5: 68,267,755 (GRCm39)	I168T	probably damaging	Het
Hat1	T	C	2: 71,264,378 (GRCm39)	V272A	probably benign	Het
Igkv8-30	A	C	6: 70,094,070 (GRCm39)	C114G	probably damaging	Het
Kcne4	T	C	1: 78,795,624 (GRCm39)	S91P	probably benign	Het
Kif5b	G	A	18: 6,213,248 (GRCm39)	Q715*	probably null	Het
Lamb1	T	A	12: 31,337,428 (GRCm39)	N386K	probably damaging	Het
Lcmt2	T	C	2: 120,969,097 (GRCm39)	N662S	probably damaging	Het
Lnx1	G	T	5: 74,780,727 (GRCm39)	H324N	probably benign	Het
Lrrc4	T	G	6: 28,830,586 (GRCm39)	D343A	probably benign	Het
Mars1	A	G	10: 127,135,154 (GRCm39)	S646P	probably damaging	Het
Mboat7	T	C	7: 3,687,010 (GRCm39)		probably benign	Het
Mlip	C	T	9: 77,072,145 (GRCm39)	V341I	possibly damaging	Het
Mterf1b	A	T	5: 4,247,057 (GRCm39)	T233S	possibly damaging	Het
Myo3a	A	T	2: 22,338,488 (GRCm39)	H442L	probably damaging	Het
Myrf	A	T	19: 10,201,964 (GRCm39)	V171D	possibly damaging	Het
Nbas	G	A	12: 13,411,046 (GRCm39)	D897N	probably benign	Het
Nfx1	T	C	4: 40,977,004 (GRCm39)	V226A	probably benign	Het
Nlrp4a	T	C	7: 26,149,578 (GRCm39)	L395P	probably damaging	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Nsun6	A	G	2: 15,044,542 (GRCm39)		probably null	Het
Ntrk2	A	G	13: 59,007,115 (GRCm39)	H239R	possibly damaging	Het
Or10g9	T	C	9: 39,912,500 (GRCm39)	T8A	probably benign	Het
Or4k51	A	T	2: 111,584,731 (GRCm39)	M46L	probably benign	Het
Or5aq7	T	C	2: 86,938,606 (GRCm39)	N42D	probably damaging	Het
Or5p70	A	G	7: 107,995,068 (GRCm39)	H247R	probably damaging	Het
Pate4	C	A	9: 35,519,553 (GRCm39)	A46S	possibly damaging	Het
Pcdhb18	T	C	18: 37,623,653 (GRCm39)	S328P	probably damaging	Het
Pdk4	A	G	6: 5,494,857 (GRCm39)		probably benign	Het
Pigm	T	C	1: 172,205,100 (GRCm39)	Y279H	probably damaging	Het
Plaat3	A	G	19: 7,556,474 (GRCm39)	I92V	probably damaging	Het
Plxdc2	A	G	2: 16,718,494 (GRCm39)	I379M	probably damaging	Het
Ppp1r35	A	G	5: 137,778,156 (GRCm39)	N217S	possibly damaging	Het
Prex1	G	A	2: 166,411,285 (GRCm39)	T1438I	possibly damaging	Het
Ptger4	T	A	15: 5,272,326 (GRCm39)	I98F	possibly damaging	Het
Rasl11a	T	A	5: 146,783,927 (GRCm39)	I124N	probably damaging	Het
Rest	A	G	5: 77,429,126 (GRCm39)	K515R	possibly damaging	Het
Ryr1	A	G	7: 28,785,474 (GRCm39)	L1746P	probably damaging	Het
Ryr2	G	T	13: 11,960,863 (GRCm39)	T25K	probably benign	Het
Sacs	A	T	14: 61,429,368 (GRCm39)	I476L	possibly damaging	Het
Serpina3g	A	T	12: 104,205,417 (GRCm39)	D52V	probably damaging	Het
Skint6	T	C	4: 112,703,881 (GRCm39)	N998S	probably benign	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Slc10a4	G	A	5: 73,174,482 (GRCm39)		probably benign	Het
Slc24a2	G	T	4: 86,929,883 (GRCm39)	P538T	probably damaging	Het
Sntg1	T	A	1: 8,665,763 (GRCm39)	T184S	probably benign	Het
Ssbp1	A	G	6: 40,453,433 (GRCm39)	Y73C	probably null	Het
St18	G	A	1: 6,898,195 (GRCm39)	V666M	probably benign	Het
Suclg1	A	G	6: 73,241,259 (GRCm39)	K193R	probably benign	Het
Tcp11l1	T	C	2: 104,514,484 (GRCm39)	I428V	possibly damaging	Het
Th	T	A	7: 142,449,280 (GRCm39)	D275V	probably damaging	Het
Tnrc18	A	C	5: 142,759,396 (GRCm39)	S813R	unknown	Het
Tnrc6a	T	C	7: 122,771,343 (GRCm39)		probably null	Het
Trap1	A	C	16: 3,863,903 (GRCm39)	Y472*	probably null	Het
Trdv1	C	A	14: 54,119,626 (GRCm39)	Q96K	probably benign	Het
Trpm8	T	C	1: 88,271,048 (GRCm39)	I446T	probably damaging	Het
Tti2	T	C	8: 31,644,294 (GRCm39)	L297P	probably damaging	Het
Ttn	C	T	2: 76,565,355 (GRCm39)	G26545R	probably damaging	Het
Ttn	T	C	2: 76,587,488 (GRCm39)	D13208G	probably damaging	Het
Tubb3	A	G	8: 124,148,417 (GRCm39)		probably null	Het
Umodl1	A	G	17: 31,190,893 (GRCm39)	M247V	probably benign	Het
Wrn	T	A	8: 33,757,853 (GRCm39)	H812L	probably benign	Het
Zfp174	A	G	16: 3,672,506 (GRCm39)	R352G	possibly damaging	Het
Zfp955a	T	A	17: 33,461,731 (GRCm39)	K134*	probably null	Het

Other mutations in Gcfc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Gcfc2	APN	6	81,912,996 (GRCm39)	missense	probably damaging	0.99
IGL00473:Gcfc2	APN	6	81,921,355 (GRCm39)	missense	probably damaging	1.00
IGL00497:Gcfc2	APN	6	81,934,951 (GRCm39)	missense	probably benign	0.08
IGL02135:Gcfc2	APN	6	81,918,381 (GRCm39)	missense	probably damaging	1.00
R0138:Gcfc2	UTSW	6	81,926,935 (GRCm39)	missense	probably damaging	1.00
R0208:Gcfc2	UTSW	6	81,920,444 (GRCm39)	missense	probably null	0.91
R0467:Gcfc2	UTSW	6	81,900,863 (GRCm39)	missense	possibly damaging	0.56
R1105:Gcfc2	UTSW	6	81,916,434 (GRCm39)	missense	probably damaging	1.00
R1521:Gcfc2	UTSW	6	81,900,793 (GRCm39)	missense	probably benign	0.14
R1602:Gcfc2	UTSW	6	81,921,401 (GRCm39)	missense	probably damaging	1.00
R1846:Gcfc2	UTSW	6	81,933,873 (GRCm39)	missense	probably damaging	0.99
R2110:Gcfc2	UTSW	6	81,900,759 (GRCm39)	missense	probably benign	0.01
R2111:Gcfc2	UTSW	6	81,900,759 (GRCm39)	missense	probably benign	0.01
R2112:Gcfc2	UTSW	6	81,900,759 (GRCm39)	missense	probably benign	0.01
R2892:Gcfc2	UTSW	6	81,933,894 (GRCm39)	missense	possibly damaging	0.87
R3792:Gcfc2	UTSW	6	81,907,748 (GRCm39)	missense	probably benign	0.00
R4284:Gcfc2	UTSW	6	81,918,372 (GRCm39)	missense	probably damaging	1.00
R4304:Gcfc2	UTSW	6	81,919,988 (GRCm39)	missense	probably damaging	1.00
R4691:Gcfc2	UTSW	6	81,918,408 (GRCm39)	nonsense	probably null
R5046:Gcfc2	UTSW	6	81,925,316 (GRCm39)	missense	probably benign	0.12
R5233:Gcfc2	UTSW	6	81,930,271 (GRCm39)	missense	probably damaging	1.00
R5307:Gcfc2	UTSW	6	81,921,367 (GRCm39)	missense	probably damaging	0.97
R5308:Gcfc2	UTSW	6	81,920,524 (GRCm39)	critical splice donor site	probably null
R5929:Gcfc2	UTSW	6	81,923,580 (GRCm39)	missense	probably damaging	1.00
R6339:Gcfc2	UTSW	6	81,923,477 (GRCm39)	missense	probably damaging	1.00
R6485:Gcfc2	UTSW	6	81,916,528 (GRCm39)	missense	probably damaging	1.00
R6931:Gcfc2	UTSW	6	81,919,966 (GRCm39)	missense	probably benign	0.36
R6948:Gcfc2	UTSW	6	81,910,734 (GRCm39)	missense	probably benign	0.01
R7392:Gcfc2	UTSW	6	81,919,993 (GRCm39)	critical splice donor site	probably null
R7423:Gcfc2	UTSW	6	81,923,541 (GRCm39)	missense	probably damaging	1.00
R7509:Gcfc2	UTSW	6	81,930,256 (GRCm39)	missense	probably damaging	1.00
R7713:Gcfc2	UTSW	6	81,918,371 (GRCm39)	missense	probably damaging	1.00
R8089:Gcfc2	UTSW	6	81,902,771 (GRCm39)	missense	probably damaging	1.00
R8249:Gcfc2	UTSW	6	81,933,932 (GRCm39)	missense	probably benign	0.02
R8366:Gcfc2	UTSW	6	81,900,782 (GRCm39)	missense	probably benign	0.05
R8553:Gcfc2	UTSW	6	81,912,944 (GRCm39)	missense	probably benign	0.01
R8560:Gcfc2	UTSW	6	81,900,863 (GRCm39)	missense	possibly damaging	0.56
R8779:Gcfc2	UTSW	6	81,925,298 (GRCm39)	missense	probably benign	0.00
R8915:Gcfc2	UTSW	6	81,918,347 (GRCm39)	missense	probably benign	0.36
R8924:Gcfc2	UTSW	6	81,909,879 (GRCm39)	missense	probably damaging	1.00
R9687:Gcfc2	UTSW	6	81,918,323 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCAGAGAATGGTCTAAGCTGAAC -3'
(R):5'- GGGCAGCAAATCTTATGCAG -3'

Sequencing Primer
(F):5'- TGGTCTAAGCTGAACATTAGAACC -3'
(R):5'- GCAGCAAATCTTATGCAGAAAATG -3'

Posted On

2015-06-24