Mutagenetix > Incidental Mutation

Incidental Mutation 'R8560:Gcfc2'

660983

Institutional Source

Beutler Lab

Gene Symbol

Gcfc2

Ensembl Gene

ENSMUSG00000035125

Gene Name

GC-rich sequence DNA binding factor 2

Synonyms

AW146020

MMRRC Submission

068523-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.484) question?

Stock #

R8560 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81900650-81936896 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81900863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 59 (V59A)

Ref Sequence

ENSEMBL: ENSMUSP00000138136 (fasta)

Gene Model

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

AlphaFold

Q8BKT3

Predicted Effect

probably benign
Transcript: ENSMUST00000043195
AA Change: V59A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000035644
Gene: ENSMUSG00000035125
AA Change: V59A

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: ENSMUST00000132301

Predicted Effect

possibly damaging
Transcript: ENSMUST00000152996
AA Change: V59A

PolyPhen 2 Score 0.557 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000138136
Gene: ENSMUSG00000035125
AA Change: V59A

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

Meta Mutation Damage Score

0.0699

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

98% (62/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,958,374 (GRCm39)	V819A	unknown	Het
Ahi1	T	C	10: 20,835,814 (GRCm39)	V49A	probably benign	Het
BB014433	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	8: 15,092,160 (GRCm39)		probably benign	Het
Ccdc87	C	T	19: 4,891,901 (GRCm39)	R798W	probably damaging	Het
Cd163	T	C	6: 124,294,360 (GRCm39)	L506S	possibly damaging	Het
Chsy3	T	C	18: 59,543,130 (GRCm39)	V756A	possibly damaging	Het
Cisd3	G	T	11: 97,576,689 (GRCm39)	W5L	possibly damaging	Het
Coro1c	A	T	5: 113,984,249 (GRCm39)	H339Q	probably damaging	Het
Cybc1	G	T	11: 121,115,041 (GRCm39)	A154D	probably damaging	Het
D630045J12Rik	T	A	6: 38,126,649 (GRCm39)	I1454F	probably damaging	Het
Dab2ip	T	C	2: 35,603,144 (GRCm39)	S448P	probably damaging	Het
Dennd5a	A	G	7: 109,533,898 (GRCm39)		probably null	Het
Depdc1a	A	G	3: 159,219,912 (GRCm39)	K139E	probably damaging	Het
Dock6	T	C	9: 21,714,132 (GRCm39)	K1874R	probably benign	Het
Dst	A	G	1: 34,307,970 (GRCm39)	H4229R	probably damaging	Het
Esyt3	T	C	9: 99,202,375 (GRCm39)	D512G	probably damaging	Het
Fastkd5	T	A	2: 130,457,865 (GRCm39)	I242L	probably benign	Het
Foxo3	G	A	10: 42,151,278 (GRCm39)	T51M	possibly damaging	Het
Gm14410	C	A	2: 176,885,445 (GRCm39)	C273F	probably damaging	Het
Gucy1b1	G	T	3: 81,942,685 (GRCm39)	P486T	probably damaging	Het
Hydin	A	G	8: 111,265,106 (GRCm39)	N2763S	probably benign	Het
Ifna2	C	A	4: 88,601,502 (GRCm39)	W172L	possibly damaging	Het
Igkv6-29	T	C	6: 70,115,651 (GRCm39)	N48D	probably benign	Het
Il17ra	C	A	6: 120,459,226 (GRCm39)	D792E	possibly damaging	Het
Kcnh5	G	T	12: 75,023,379 (GRCm39)	A563E	probably damaging	Het
Klra4	C	A	6: 130,042,235 (GRCm39)	V11L	probably benign	Het
Krt13	T	C	11: 100,009,676 (GRCm39)	E368G	possibly damaging	Het
Lrpprc	T	A	17: 85,047,495 (GRCm39)		probably benign	Het
Mal2	T	C	15: 54,461,826 (GRCm39)	I107T	probably benign	Het
Mc4r	T	C	18: 66,992,166 (GRCm39)	I316V	possibly damaging	Het
Mdn1	T	A	4: 32,743,830 (GRCm39)	V4022E	probably benign	Het
Med12l	A	G	3: 58,945,026 (GRCm39)	N84D	probably damaging	Het
Mx1	T	G	16: 97,253,987 (GRCm39)	T298P	probably damaging	Het
Myh7	T	C	14: 55,213,405 (GRCm39)	E1367G	possibly damaging	Het
Myh7b	A	G	2: 155,465,124 (GRCm39)	E660G	possibly damaging	Het
Nbeal1	T	A	1: 60,274,316 (GRCm39)	N242K	probably benign	Het
Nsun5	A	G	5: 135,404,743 (GRCm39)	T435A	probably benign	Het
Or14j4	C	T	17: 37,920,949 (GRCm39)	S231N	possibly damaging	Het
Or4q3	T	A	14: 50,583,794 (GRCm39)	D4V	probably benign	Het
Or5b109	T	C	19: 13,211,656 (GRCm39)	L14P	possibly damaging	Het
Pcdhb17	C	T	18: 37,619,206 (GRCm39)	T332M	possibly damaging	Het
Pi4k2a	C	T	19: 42,089,151 (GRCm39)	Q171*	probably null	Het
Plb1	T	C	5: 32,460,023 (GRCm39)	V421A	possibly damaging	Het
Prkag2	TTTTTTTTTTTTA	T	5: 25,071,063 (GRCm39)		probably benign	Het
Prlhr	A	G	19: 60,456,635 (GRCm39)		probably benign	Het
Prpf8	T	A	11: 75,382,600 (GRCm39)	C435*	probably null	Het
Rnf183	T	A	4: 62,346,735 (GRCm39)	N21I	probably damaging	Het
Rnf41	T	A	10: 128,274,222 (GRCm39)	C291*	probably null	Het
Shd	T	C	17: 56,278,616 (GRCm39)	S60P	probably benign	Het
Slc16a5	A	G	11: 115,360,545 (GRCm39)	T243A	probably benign	Het
Slc33a1	A	T	3: 63,850,773 (GRCm39)	I517N	possibly damaging	Het
Slc4a1	A	C	11: 102,244,083 (GRCm39)	M682R	possibly damaging	Het
Sphk2	A	T	7: 45,361,514 (GRCm39)	N245K	probably damaging	Het
Stx7	T	C	10: 24,057,454 (GRCm39)	I160T	possibly damaging	Het
Thbs4	T	C	13: 92,891,608 (GRCm39)	I836V	probably damaging	Het
Tmc5	A	T	7: 118,268,514 (GRCm39)	N861Y	probably damaging	Het
Trappc5	T	A	8: 3,729,303 (GRCm39)	W94R	probably damaging	Het
Trmt44	T	C	5: 35,715,295 (GRCm39)	I673V	probably benign	Het
Ttn	T	C	2: 76,571,615 (GRCm39)	Y26426C	probably damaging	Het
Wdr81	C	T	11: 75,336,260 (GRCm39)	G591R		Het
Zfp236	G	A	18: 82,664,340 (GRCm39)	R482W	probably damaging	Het
Zfp51	T	A	17: 21,685,635 (GRCm39)	M750K	probably benign	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
R2091:Gcfc2	UTSW	6	81,920,460 (GRCm39)	missense	probably damaging	1.00
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
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'- TTGGAACATGGCTCTCAGGC -3'
(R):5'- CCAATGGCTGTATGCTCTAGTCG -3'

Sequencing Primer
(F):5'- CCCCAGAGGACTTTCAGGC -3'
(R):5'- GTCACCTGAGGATGCAAACTGC -3'

Posted On

2021-03-08