Mutagenetix > Incidental Mutation

Incidental Mutation 'R6962:Gsc2'

541846

Institutional Source

Beutler Lab

Gene Symbol

Gsc2

Ensembl Gene

ENSMUSG00000022738

Gene Name

goosecoid homebox 2

Synonyms

4930568H22Rik, Gscl

MMRRC Submission

045072-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6962 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17730978-17732891 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17732902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 2 (Y2C)

Ref Sequence

ENSEMBL: ENSMUSP00000155932 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003621] [ENSMUST00000012279] [ENSMUST00000232423] [ENSMUST00000232493]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000003621

SMART Domains

Protein: ENSMUSP00000003621
Gene: ENSMUSG00000003527

Domain	Start	End	E-Value	Type
low complexity region	7	34	N/A	INTRINSIC
Pfam:Es2	37	405	1.9e-76	PFAM
low complexity region	434	455	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000012279

SMART Domains

Protein: ENSMUSP00000012279
Gene: ENSMUSG00000022738

Domain	Start	End	E-Value	Type
low complexity region	59	85	N/A	INTRINSIC
low complexity region	95	119	N/A	INTRINSIC
HOX	136	198	2.9e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000232423

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232493
AA Change: Y2C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

96% (74/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Goosecoidlike (GSCL), a homeodomain-containing gene, resides in the critical region for VCFS/DGS on 22q11. Velocardiofacial syndrome (VCFS) is a developmental disorder characterized by conotruncal heart defects, craniofacial anomalies, and learning disabilities. VCFS is phenotypically related to DiGeorge syndrome (DGS) and both syndromes are associated with hemizygous 22q11 deletions. Because many of the tissues and structures affected in VCFS/DGS derive from the pharyngeal arches of the developing embryo, it is believed that haploinsufficiency of a gene involved in embryonic development may be responsible for its etiology. The gene is expressed in a limited number of adult tissues, as well as in early human development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for either one of two independently generated knock-out alleles are viable and fertile with no detectable anatomical or histological abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,949,150 (GRCm39)	K1016E	probably benign	Het
Abca3	T	C	17: 24,583,700 (GRCm39)	F30L	probably benign	Het
Arhgap17	C	T	7: 122,895,655 (GRCm39)	G490R	probably damaging	Het
Arsg	T	A	11: 109,412,495 (GRCm39)	L140H	probably damaging	Het
Bmp2k	T	A	5: 97,179,097 (GRCm39)	C130*	probably null	Het
C4b	T	C	17: 34,951,140 (GRCm39)		probably null	Het
Cdk5r2	A	G	1: 74,894,975 (GRCm39)	Y240C	probably damaging	Het
Cntnap5b	A	G	1: 100,202,197 (GRCm39)	E348G	probably benign	Het
Col27a1	A	G	4: 63,237,738 (GRCm39)		probably benign	Het
Cubn	G	A	2: 13,352,840 (GRCm39)	S1966F	probably benign	Het
Dnajc13	T	C	9: 104,058,208 (GRCm39)	Y1509C	probably benign	Het
Dpp4	A	G	2: 62,203,174 (GRCm39)	V265A	probably benign	Het
Dync2i1	A	T	12: 116,175,398 (GRCm39)	D926E	probably damaging	Het
Fbxl8	C	A	8: 105,995,338 (GRCm39)	N283K	possibly damaging	Het
Fev	T	A	1: 74,921,299 (GRCm39)	Q122L	probably benign	Het
Fgd4	T	A	16: 16,301,951 (GRCm39)		probably null	Het
Fnip2	A	C	3: 79,396,610 (GRCm39)	L439R	probably damaging	Het
Git1	C	A	11: 77,395,469 (GRCm39)	Q389K	probably benign	Het
Gm10509	C	G	17: 21,909,833 (GRCm39)	I53M	possibly damaging	Het
Gm5773	A	T	3: 93,681,234 (GRCm39)	H302L	possibly damaging	Het
Greb1l	G	T	18: 10,547,327 (GRCm39)	R1515L	probably damaging	Het
H60b	A	G	10: 22,162,053 (GRCm39)	N93D	probably benign	Het
Hgf	G	A	5: 16,820,752 (GRCm39)	R633Q	probably benign	Het
Hmgb1	C	T	5: 148,985,633 (GRCm39)		probably benign	Het
Hmmr	T	C	11: 40,598,242 (GRCm39)	T657A	probably damaging	Het
Htt	G	T	5: 35,057,115 (GRCm39)		probably null	Het
Ift80	G	A	3: 68,901,878 (GRCm39)		probably benign	Het
Kcnq5	G	T	1: 21,576,017 (GRCm39)	T229K	probably damaging	Het
Kcp	C	T	6: 29,482,839 (GRCm39)	R1410Q	probably benign	Het
Klhl30	T	G	1: 91,285,137 (GRCm39)	V331G	probably damaging	Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Lrrc37	G	A	11: 103,505,126 (GRCm39)	P105S	possibly damaging	Het
Macf1	C	T	4: 123,334,515 (GRCm39)	R2849Q	probably benign	Het
Mex3b	T	G	7: 82,518,473 (GRCm39)	S263A	probably benign	Het
Mrgpre	A	G	7: 143,334,799 (GRCm39)	S235P	probably damaging	Het
Myh14	A	T	7: 44,307,363 (GRCm39)	V226D	probably benign	Het
Myom2	G	A	8: 15,167,741 (GRCm39)	A1109T	probably null	Het
Nudt8	G	T	19: 4,051,831 (GRCm39)	L147F	probably damaging	Het
Or2aj5	T	A	16: 19,424,672 (GRCm39)	I249L	probably benign	Het
Or52e8	T	A	7: 104,624,580 (GRCm39)	N208I	probably benign	Het
Or5w17	A	G	2: 87,584,071 (GRCm39)	Y89H	probably benign	Het
Or6z7	A	T	7: 6,484,008 (GRCm39)	I49N	probably benign	Het
P4htm	C	A	9: 108,456,394 (GRCm39)	A469S	possibly damaging	Het
Pld4	A	T	12: 112,733,288 (GRCm39)	H288L	probably benign	Het
Pnpla1	T	A	17: 29,097,455 (GRCm39)	I207N	probably damaging	Het
Ppcs	T	G	4: 119,279,375 (GRCm39)	N59T	probably damaging	Het
Ppm1k	A	T	6: 57,492,645 (GRCm39)	C214S	probably damaging	Het
Psg25	C	T	7: 18,263,679 (GRCm39)	G48E	probably damaging	Het
Rassf7	A	G	7: 140,797,503 (GRCm39)	T239A	possibly damaging	Het
Rgs3	G	T	4: 62,618,952 (GRCm39)		probably benign	Het
Scaper	T	C	9: 55,767,055 (GRCm39)	T465A	probably benign	Het
Slc4a7	G	T	14: 14,746,021 (GRCm38)	G405C	probably damaging	Het
Smpd3	T	C	8: 106,991,851 (GRCm39)	D234G	probably benign	Het
Spata31f1e	T	C	4: 42,793,323 (GRCm39)	T270A	probably damaging	Het
Ssc4d	A	G	5: 135,991,775 (GRCm39)		probably null	Het
Sugct	G	T	13: 17,032,606 (GRCm39)		probably null	Het
Taok2	C	A	7: 126,466,088 (GRCm39)		probably null	Het
Tbx20	A	G	9: 24,681,036 (GRCm39)	V152A	probably damaging	Het
Tbx4	A	G	11: 85,781,085 (GRCm39)	E66G	probably benign	Het
Thbs2	T	C	17: 14,902,082 (GRCm39)	E382G	probably benign	Het
Ticrr	T	G	7: 79,315,645 (GRCm39)	S300A	possibly damaging	Het
Trim46	A	G	3: 89,146,303 (GRCm39)	L396P	probably damaging	Het
Trim56	A	G	5: 137,141,501 (GRCm39)	F672L	probably damaging	Het
Ttf2	A	G	3: 100,858,453 (GRCm39)	L712S	probably damaging	Het
Unc93b1	T	G	19: 3,986,303 (GRCm39)	D112E	possibly damaging	Het
Usp17lc	T	C	7: 103,068,118 (GRCm39)	L471P	probably benign	Het
Vmn2r85	A	G	10: 130,261,452 (GRCm39)	I295T	probably damaging	Het
Vmn2r96	T	G	17: 18,818,283 (GRCm39)	I812S	probably damaging	Het
Wdr7	G	A	18: 63,998,359 (GRCm39)	C1102Y	possibly damaging	Het
Wnt9b	G	T	11: 103,624,515 (GRCm39)	Q92K	probably null	Het
Zbtb26	A	T	2: 37,326,106 (GRCm39)	M310K	possibly damaging	Het
Zdhhc1	T	C	8: 106,210,279 (GRCm39)	H46R	probably damaging	Het
Zfp628	G	T	7: 4,922,549 (GRCm39)	R257L	probably benign	Het
Zfp747l1	A	T	7: 126,983,487 (GRCm39)	D538E	possibly damaging	Het
Zmat4	A	G	8: 24,392,181 (GRCm39)	T46A	probably benign	Het
Zmiz2	T	A	11: 6,352,455 (GRCm39)	W637R	probably damaging	Het

Other mutations in Gsc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3035:Gsc2	UTSW	16	17,732,792 (GRCm39)	missense	probably damaging	0.99
R3153:Gsc2	UTSW	16	17,732,364 (GRCm39)	missense	probably damaging	1.00
R3154:Gsc2	UTSW	16	17,732,364 (GRCm39)	missense	probably damaging	1.00
R4154:Gsc2	UTSW	16	17,732,666 (GRCm39)	small deletion	probably benign
R6182:Gsc2	UTSW	16	17,731,483 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- TCGCTGAAGATGGTACGGTG -3'
(R):5'- CCTGCCTTAAAAGATATAAAGGATGGG -3'

Sequencing Primer
(F):5'- GAGATCCCCGCCTAGTCTTG -3'
(R):5'- TCCAGCTCTAGACGTGGCAG -3'

Posted On

2018-11-28