Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01936:Glcci1'

180709

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Glcci1

Ensembl Gene

ENSMUSG00000029638

Gene Name

glucocorticoid induced transcript 1

Synonyms

A130036A18Rik, Tssn1, GIG18, Fam117c, 2310047L21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

IGL01936

Quality Score

Status

Chromosome

Chromosomal Location

8509600-8597548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8579596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 79 (S79T)

Ref Sequence

ENSEMBL: ENSMUSP00000125079 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064285] [ENSMUST00000161217] [ENSMUST00000161494] [ENSMUST00000162383] [ENSMUST00000162564] [ENSMUST00000162567]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000064285
AA Change: S266T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000069444
Gene: ENSMUSG00000029638
AA Change: S266T

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
low complexity region	22	48	N/A	INTRINSIC
low complexity region	69	110	N/A	INTRINSIC
low complexity region	118	141	N/A	INTRINSIC
Pfam:FAM117	159	468	1.7e-132	PFAM
low complexity region	493	506	N/A	INTRINSIC
low complexity region	512	525	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161217
AA Change: S78T

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124167
Gene: ENSMUSG00000029638
AA Change: S78T

Domain	Start	End	E-Value	Type
Pfam:FAM117	1	284	3.2e-104	PFAM
low complexity region	305	318	N/A	INTRINSIC
low complexity region	324	337	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161494
AA Change: S79T

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000124595
Gene: ENSMUSG00000029638
AA Change: S79T

Domain	Start	End	E-Value	Type
Pfam:FAM117	1	237	1e-83	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162206

Predicted Effect

probably benign
Transcript: ENSMUST00000162383
AA Change: S78T

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000125260
Gene: ENSMUSG00000029638
AA Change: S78T

Domain	Start	End	E-Value	Type
Pfam:FAM117	1	94	3.9e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162564

Predicted Effect

probably damaging
Transcript: ENSMUST00000162567
AA Change: S79T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125079
Gene: ENSMUSG00000029638
AA Change: S79T

Domain	Start	End	E-Value	Type
Pfam:FAM117	1	285	2.7e-100	PFAM
low complexity region	306	319	N/A	INTRINSIC
low complexity region	325	338	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein of unknown function. Expression of this gene is induced by glucocorticoids and may be an early marker for glucocorticoid-induced apoptosis. Single nucleotide polymorphisms in this gene are associated with a decreased response to inhaled glucocorticoids in asthmatic patients. [provided by RefSeq, Feb 2012]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	A	5: 90,009,282 (GRCm39)	H127L	probably benign	Het
Adamtsl3	T	C	7: 82,244,579 (GRCm39)	V419A	possibly damaging	Het
Arhgap31	T	A	16: 38,423,287 (GRCm39)	L926F	probably damaging	Het
Asgr2	A	T	11: 69,988,877 (GRCm39)		probably null	Het
C3ar1	T	A	6: 122,828,194 (GRCm39)	T8S	probably benign	Het
Caskin2	T	C	11: 115,695,543 (GRCm39)	I273V	probably damaging	Het
Ccnl2	T	A	4: 155,904,856 (GRCm39)	C242S	probably damaging	Het
Cdkn2a	A	T	4: 89,212,569 (GRCm39)		probably null	Het
Cfap45	T	G	1: 172,361,616 (GRCm39)	M231R	probably damaging	Het
Clcn7	A	C	17: 25,374,350 (GRCm39)	N464H	probably benign	Het
Col20a1	T	A	2: 180,651,161 (GRCm39)		probably benign	Het
Col7a1	T	A	9: 108,797,067 (GRCm39)		probably benign	Het
Cops7a	T	C	6: 124,939,379 (GRCm39)	D90G	probably benign	Het
Ctcf	T	C	8: 106,396,864 (GRCm39)	V363A	probably benign	Het
Cyp2j12	A	G	4: 96,021,306 (GRCm39)	V100A	probably benign	Het
Dcaf1	T	A	9: 106,736,800 (GRCm39)	F1085Y	possibly damaging	Het
Drc7	T	A	8: 95,800,760 (GRCm39)	F594Y	possibly damaging	Het
Ehbp1l1	C	A	19: 5,768,277 (GRCm39)	E1009*	probably null	Het
Epg5	C	A	18: 78,028,316 (GRCm39)	R1286S	probably damaging	Het
Etv1	T	C	12: 38,885,060 (GRCm39)		probably benign	Het
Exosc7	T	C	9: 122,964,956 (GRCm39)		probably benign	Het
Fam227a	T	C	15: 79,496,747 (GRCm39)	D610G	possibly damaging	Het
Fat4	T	A	3: 39,033,923 (GRCm39)	M2525K	probably benign	Het
Gimap5	G	T	6: 48,729,999 (GRCm39)	A190S	probably damaging	Het
Gpnmb	C	T	6: 49,024,384 (GRCm39)	T233I	probably null	Het
Hdac1-ps	T	C	17: 78,799,558 (GRCm39)	V183A	probably damaging	Het
Hyls1	T	C	9: 35,473,363 (GRCm39)	I18V	probably benign	Het
Ighv1-63	C	T	12: 115,459,274 (GRCm39)	E108K	probably damaging	Het
Ighv5-12	C	A	12: 113,665,927 (GRCm39)	R57L	probably damaging	Het
Igkv5-37	T	C	6: 69,940,323 (GRCm39)	Y107C	probably damaging	Het
Il20ra	T	A	10: 19,631,591 (GRCm39)	V264D	probably damaging	Het
Jph1	A	T	1: 17,167,608 (GRCm39)	V74E	probably damaging	Het
Kcnab1	C	T	3: 65,265,695 (GRCm39)	L280F	probably damaging	Het
Kcnk1	T	C	8: 126,751,826 (GRCm39)	F144S	probably damaging	Het
Kcnq1	G	A	7: 142,738,241 (GRCm39)	E294K	possibly damaging	Het
Kdm4b	T	A	17: 56,704,355 (GRCm39)	V813E	probably damaging	Het
Kntc1	T	A	5: 123,949,439 (GRCm39)	F1937I	probably damaging	Het
Ldb2	G	A	5: 44,637,586 (GRCm39)	R241W	probably damaging	Het
Lgr5	T	C	10: 115,288,319 (GRCm39)	N703S	probably damaging	Het
Map4k1	A	T	7: 28,688,032 (GRCm39)	M227L	possibly damaging	Het
Mbnl1	T	A	3: 60,520,940 (GRCm39)	M268K	possibly damaging	Het
Mcm2	C	A	6: 88,868,708 (GRCm39)	G350C	probably damaging	Het
Myh2	A	T	11: 67,082,599 (GRCm39)	T1390S	possibly damaging	Het
Npat	T	A	9: 53,469,526 (GRCm39)		probably benign	Het
Nr2e1	T	A	10: 42,443,969 (GRCm39)	D251V	possibly damaging	Het
Or1x2	A	G	11: 50,918,162 (GRCm39)	N111S	probably benign	Het
Or4d10	C	T	19: 12,051,421 (GRCm39)	V192I	probably benign	Het
Or5b107	C	A	19: 13,142,767 (GRCm39)	P130T	probably damaging	Het
Plekha5	T	A	6: 140,470,621 (GRCm39)	H87Q	probably damaging	Het
Polr3a	A	G	14: 24,529,256 (GRCm39)	V368A	probably damaging	Het
Psmb8	T	A	17: 34,419,168 (GRCm39)	L154Q	probably damaging	Het
Rab40c	A	C	17: 26,103,644 (GRCm39)	C140G	probably damaging	Het
Ranbp17	G	A	11: 33,437,689 (GRCm39)	T183I	probably benign	Het
Ruvbl2	T	C	7: 45,078,122 (GRCm39)	E117G	probably damaging	Het
Serpinb3b	T	A	1: 107,082,368 (GRCm39)	M299L	probably benign	Het
Smpdl3a	A	G	10: 57,678,530 (GRCm39)	H111R	probably damaging	Het
Sspo	C	A	6: 48,452,821 (GRCm39)	P2843H	probably damaging	Het
Stk39	T	C	2: 68,144,908 (GRCm39)	T389A	probably benign	Het
Synrg	T	A	11: 83,910,531 (GRCm39)	F1000Y	probably benign	Het
Thbs2	C	T	17: 14,908,076 (GRCm39)	S229N	probably benign	Het
Thsd1	G	A	8: 22,742,247 (GRCm39)	C305Y	probably damaging	Het
Ticrr	C	A	7: 79,344,297 (GRCm39)	D1387E	probably benign	Het
Tmem145	G	T	7: 25,010,816 (GRCm39)	A383S	probably damaging	Het
Tmprss4	A	G	9: 45,090,718 (GRCm39)	V187A	probably damaging	Het
Unc13c	T	A	9: 73,600,524 (GRCm39)	M1407L	probably benign	Het
Vps39	C	T	2: 120,153,609 (GRCm39)	G655D	probably benign	Het
Wwtr1	T	C	3: 57,482,241 (GRCm39)		probably benign	Het
Xrn1	T	C	9: 95,930,397 (GRCm39)	S1535P	probably damaging	Het

Other mutations in Glcci1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02349:Glcci1	APN	6	8,558,581 (GRCm39)	missense	probably damaging	1.00
IGL02877:Glcci1	APN	6	8,582,757 (GRCm39)	missense	probably damaging	1.00
IGL03291:Glcci1	APN	6	8,579,678 (GRCm39)	missense	probably damaging	1.00
R1084:Glcci1	UTSW	6	8,573,221 (GRCm39)	nonsense	probably null
R1289:Glcci1	UTSW	6	8,593,088 (GRCm39)	missense	possibly damaging	0.70
R1466:Glcci1	UTSW	6	8,537,964 (GRCm39)	missense	probably damaging	1.00
R1466:Glcci1	UTSW	6	8,537,964 (GRCm39)	missense	probably damaging	1.00
R1539:Glcci1	UTSW	6	8,591,620 (GRCm39)	missense	probably damaging	1.00
R1584:Glcci1	UTSW	6	8,537,964 (GRCm39)	missense	probably damaging	1.00
R1873:Glcci1	UTSW	6	8,537,837 (GRCm39)	missense	probably benign	0.06
R1982:Glcci1	UTSW	6	8,592,980 (GRCm39)	missense	probably damaging	1.00
R2043:Glcci1	UTSW	6	8,582,590 (GRCm39)	missense	probably damaging	1.00
R2070:Glcci1	UTSW	6	8,558,566 (GRCm39)	missense	probably damaging	1.00
R4834:Glcci1	UTSW	6	8,582,601 (GRCm39)	nonsense	probably null
R5166:Glcci1	UTSW	6	8,537,854 (GRCm39)	missense	probably benign	0.23
R5390:Glcci1	UTSW	6	8,537,835 (GRCm39)	missense	probably benign	0.01
R6351:Glcci1	UTSW	6	8,573,203 (GRCm39)	nonsense	probably null
R7985:Glcci1	UTSW	6	8,573,186 (GRCm39)	missense	probably damaging	0.99
R8171:Glcci1	UTSW	6	8,593,167 (GRCm39)	missense	probably benign	0.00
R8292:Glcci1	UTSW	6	8,558,549 (GRCm39)	missense	probably damaging	1.00
R9186:Glcci1	UTSW	6	8,537,826 (GRCm39)	missense	possibly damaging	0.63
R9745:Glcci1	UTSW	6	8,573,278 (GRCm39)	missense	probably benign	0.11
X0065:Glcci1	UTSW	6	8,591,636 (GRCm39)	nonsense	probably null
Z1176:Glcci1	UTSW	6	8,582,674 (GRCm39)	missense	possibly damaging	0.72

Posted On

2014-05-07