Mutagenetix > Incidental Mutation

Incidental Mutation 'R1873:Glcci1'

210930

Institutional Source

Beutler Lab

Gene Symbol

Glcci1

Ensembl Gene

ENSMUSG00000029638

Gene Name

glucocorticoid induced transcript 1

Synonyms

A130036A18Rik, Tssn1, GIG18, Fam117c, 2310047L21Rik

MMRRC Submission

039895-MU

Accession Numbers

Essential gene?

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

Stock #

R1873 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8509600-8597548 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 8537837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 152 (H152N)

Ref Sequence

ENSEMBL: ENSMUSP00000069444 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000064285
AA Change: H152N

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000069444
Gene: ENSMUSG00000029638
AA Change: H152N

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

SMART Domains

Protein: ENSMUSP00000124167
Gene: ENSMUSG00000029638

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

SMART Domains

Protein: ENSMUSP00000124595
Gene: ENSMUSG00000029638

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

Predicted Effect

probably benign
Transcript: ENSMUST00000162383

SMART Domains

Protein: ENSMUSP00000125260
Gene: ENSMUSG00000029638

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

Predicted Effect

unknown
Transcript: ENSMUST00000162564
AA Change: T127K

Predicted Effect

probably benign
Transcript: ENSMUST00000162567

SMART Domains

Protein: ENSMUSP00000125079
Gene: ENSMUSG00000029638

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 92.9%

Validation Efficiency

98% (82/84)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,870,781 (GRCm39)	I124L	probably benign	Het
Abi3bp	A	G	16: 56,394,862 (GRCm39)	Y190C	probably damaging	Het
Adam34	A	C	8: 44,104,843 (GRCm39)	N267K	probably benign	Het
Anxa5	T	C	3: 36,503,551 (GRCm39)	D301G	probably damaging	Het
Atf7ip	G	T	6: 136,536,886 (GRCm39)	D40Y	probably damaging	Het
Cacna2d2	T	G	9: 107,391,071 (GRCm39)	M400R	probably damaging	Het
Cd96	C	A	16: 45,938,335 (GRCm39)	L43F	probably damaging	Het
Cep120	T	C	18: 53,871,560 (GRCm39)	E104G	probably damaging	Het
Cfap221	T	C	1: 119,881,389 (GRCm39)	I358V	probably benign	Het
Cfhr4	C	T	1: 139,702,398 (GRCm39)	E29K	probably damaging	Het
Chil4	C	T	3: 106,113,414 (GRCm39)	E168K	probably benign	Het
Clca3a1	A	G	3: 144,452,590 (GRCm39)	V631A	probably damaging	Het
Cluh	C	T	11: 74,552,902 (GRCm39)	A649V	possibly damaging	Het
Commd9	A	G	2: 101,727,502 (GRCm39)	T99A	probably benign	Het
Csgalnact1	T	C	8: 68,854,036 (GRCm39)	N255S	probably benign	Het
Cyth3	T	A	5: 143,683,516 (GRCm39)	H138Q	possibly damaging	Het
Dnah7a	A	T	1: 53,495,691 (GRCm39)		probably benign	Het
Fbxl18	G	A	5: 142,871,978 (GRCm39)	A419V	probably damaging	Het
Fyco1	A	G	9: 123,652,303 (GRCm39)	V1135A	probably benign	Het
Gm10477	T	A	X: 55,570,127 (GRCm39)	F9Y	probably damaging	Het
Gnrhr	A	G	5: 86,330,060 (GRCm39)	L320P	probably damaging	Het
Gorasp1	A	T	9: 119,759,306 (GRCm39)	S138T	probably benign	Het
Hars1	C	A	18: 36,900,294 (GRCm39)	Q469H	probably damaging	Het
Homer2	T	C	7: 81,286,111 (GRCm39)	K34E	probably damaging	Het
Hscb	T	C	5: 110,978,823 (GRCm39)	I198V	probably benign	Het
Kat6b	T	C	14: 21,567,057 (GRCm39)	S39P	probably damaging	Het
Kcnk12	G	T	17: 88,053,499 (GRCm39)	Q388K	probably damaging	Het
Kcnq3	A	G	15: 65,874,104 (GRCm39)	I548T	probably benign	Het
Mark2	A	G	19: 7,261,880 (GRCm39)	Y351H	probably damaging	Het
Masp2	A	T	4: 148,698,952 (GRCm39)	I678F	probably damaging	Het
Mc4r	A	T	18: 66,992,531 (GRCm39)	I194N	probably damaging	Het
Ms4a6d	A	G	19: 11,579,223 (GRCm39)	S85P	probably damaging	Het
Myh4	T	A	11: 67,145,569 (GRCm39)	Y1351N	probably benign	Het
Myo16	A	G	8: 10,322,789 (GRCm39)	D73G	probably damaging	Het
Mzt1	C	T	14: 99,278,097 (GRCm39)		probably null	Het
Nalcn	G	A	14: 123,521,013 (GRCm39)	H1631Y	probably benign	Het
Ncf2	A	G	1: 152,701,661 (GRCm39)	N213S	probably benign	Het
Nf1	C	A	11: 79,437,987 (GRCm39)	T99K	probably damaging	Het
Nsf	T	C	11: 103,749,843 (GRCm39)	S547G	probably damaging	Het
Ntrk3	T	A	7: 78,112,587 (GRCm39)	I190F	probably benign	Het
Obsl1	T	C	1: 75,474,877 (GRCm39)	Y841C	probably damaging	Het
Ogdh	A	T	11: 6,290,438 (GRCm39)		probably benign	Het
Or2ag12	T	A	7: 106,277,691 (GRCm39)	M1L	probably damaging	Het
Or5b12	C	T	19: 12,896,852 (GRCm39)	V274M	probably damaging	Het
Otog	G	A	7: 45,918,767 (GRCm39)	V948I	probably damaging	Het
Plekhm1	T	C	11: 103,264,824 (GRCm39)	D880G	probably benign	Het
Pnliprp2	G	T	19: 58,751,821 (GRCm39)	V189L	probably benign	Het
Polg	A	G	7: 79,106,241 (GRCm39)	L678S	probably benign	Het
Ptprm	C	T	17: 66,995,350 (GRCm39)	V1293I	probably damaging	Het
Pwwp3a	T	A	10: 80,068,442 (GRCm39)	D195E	possibly damaging	Het
Rhou	A	T	8: 124,387,990 (GRCm39)	R241W	probably damaging	Het
Rtn4	A	T	11: 29,686,437 (GRCm39)	N264I	probably damaging	Het
Sez6l	T	C	5: 112,621,276 (GRCm39)		probably benign	Het
Sost	T	C	11: 101,855,069 (GRCm39)	E80G	probably damaging	Het
Spag16	C	T	1: 69,935,744 (GRCm39)		probably benign	Het
Speer4f2	A	T	5: 17,579,447 (GRCm39)	N82I	probably damaging	Het
Spef2	C	T	15: 9,584,194 (GRCm39)	E1624K	probably damaging	Het
Taf1b	T	A	12: 24,606,668 (GRCm39)	L496Q	possibly damaging	Het
Tarbp1	A	G	8: 127,173,786 (GRCm39)	I976T	probably damaging	Het
Tex14	T	A	11: 87,390,431 (GRCm39)	V376D	probably damaging	Het
Timm21	G	C	18: 84,967,387 (GRCm39)	L130V	probably damaging	Het
Tm9sf1	T	C	14: 55,873,680 (GRCm39)	D606G	probably damaging	Het
Tmc2	A	C	2: 130,090,676 (GRCm39)	N674T	possibly damaging	Het
Top3a	C	A	11: 60,638,810 (GRCm39)	E562*	probably null	Het
Umodl1	A	T	17: 31,201,238 (GRCm39)	D389V	probably damaging	Het
Uso1	T	C	5: 92,340,718 (GRCm39)		probably benign	Het
Vmn1r205	A	G	13: 22,776,223 (GRCm39)	V293A	possibly damaging	Het
Vmn2r107	A	G	17: 20,565,840 (GRCm39)	T52A	probably benign	Het
Vmn2r4	C	T	3: 64,298,479 (GRCm39)	V461I	possibly damaging	Het
Vmn2r99	A	T	17: 19,582,415 (GRCm39)	I7F	probably benign	Het
Vps11	A	G	9: 44,271,233 (GRCm39)	F80S	probably damaging	Het
Wdr43	A	G	17: 71,940,647 (GRCm39)	S258G	probably benign	Het
Zbtb24	A	G	10: 41,327,123 (GRCm39)	D3G	probably benign	Het
Zc3hav1	C	T	6: 38,309,692 (GRCm39)	V377I	possibly damaging	Het
Zfp668	T	C	7: 127,465,654 (GRCm39)		probably null	Het

Other mutations in Glcci1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01936:Glcci1	APN	6	8,579,596 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- CAGTTTGTGAGGCATGATGAAATG -3'
(R):5'- AAACAAGGGATGCTGCTTTGG -3'

Sequencing Primer
(F):5'- CCTAAAATAGTTGGGCTTTCAAGGG -3'
(R):5'- TGGTTGGGTTTATTTCATATTCAGG -3'

Posted On

2014-06-30