Mutagenetix > Incidental Mutations

Incidental Mutation 'R4679:Glmn'

349909

Institutional Source

Beutler Lab

Gene Symbol

Glmn

Ensembl Gene

ENSMUSG00000029276

Gene Name

glomulin, FKBP associated protein

Synonyms

9330160J16Rik, Fap48, Fap68

MMRRC Submission

041932-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4679 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107548967-107597888 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 107561075 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 372 (T372K)

Ref Sequence

ENSEMBL: ENSMUSP00000098509 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078021] [ENSMUST00000082121] [ENSMUST00000100949] [ENSMUST00000124546]

Predicted Effect

probably damaging
Transcript: ENSMUST00000078021
AA Change: T372K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077168
Gene: ENSMUSG00000029276
AA Change: T372K

Domain	Start	End	E-Value	Type
Pfam:Kinetochor_Ybp2	1	563	5.6e-101	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000082121
AA Change: T372K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080766
Gene: ENSMUSG00000029276
AA Change: T372K

Domain	Start	End	E-Value	Type
Pfam:Kinetochor_Ybp2	1	563	3.5e-99	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000100949
AA Change: T372K

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

SMART Domains

Protein: ENSMUSP00000098509
Gene: ENSMUSG00000029276
AA Change: T372K

Domain	Start	End	E-Value	Type
Pfam:Kinetochor_Ybp2	1	404	1.1e-63	PFAM
Pfam:Kinetochor_Ybp2	402	499	1.5e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124546

SMART Domains

Protein: ENSMUSP00000122129
Gene: ENSMUSG00000029276

Domain	Start	End	E-Value	Type
Pfam:Kinetochor_Ybp2	1	95	6e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143074

SMART Domains

Protein: ENSMUSP00000122032
Gene: ENSMUSG00000106631

Domain	Start	End	E-Value	Type
low complexity region	116	127	N/A	INTRINSIC
low complexity region	364	375	N/A	INTRINSIC

Meta Mutation Damage Score

0.7480

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

98% (112/114)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Multiple splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit complete embryonic lethality during organogenesis associated with growth retardation, delayed neural tube closure, incomplete embryo turning, pericardial effusion, disorganized yolk sac vascular plexus and head mesenchyme hypocellularity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110043O21Rik	C	T	4: 35,226,033		probably benign	Het
AA986860	T	A	1: 130,742,403	S121T	possibly damaging	Het
Abcb9	A	G	5: 124,078,804	V450A	probably benign	Het
Abcg1	A	T	17: 31,114,261	R659S	probably benign	Het
Acad9	A	T	3: 36,088,840	N508I	possibly damaging	Het
Acrbp	T	A	6: 125,060,918	C393S	probably damaging	Het
Adcy7	T	C	8: 88,317,937	V486A	probably benign	Het
Adgrf1	G	T	17: 43,310,493	L540F	probably damaging	Het
Ap5m1	T	C	14: 49,078,828	I285T	probably benign	Het
Arhgap27	G	T	11: 103,360,949		probably benign	Het
Armc5	A	T	7: 128,240,104	E198V	possibly damaging	Het
Atp8b5	A	T	4: 43,365,955	K742M	probably benign	Het
Atp9a	T	G	2: 168,661,964	T603P	possibly damaging	Het
Bsn	A	G	9: 108,110,130	S2808P	unknown	Het
Catsper4	T	C	4: 134,226,605	N81S	probably damaging	Het
Ccl17	C	G	8: 94,810,500	T10S	probably benign	Het
Cdc123	A	T	2: 5,844,892	V6D	probably damaging	Het
Cdca2	T	C	14: 67,714,966	K14E	possibly damaging	Het
Cdh3	C	A	8: 106,539,856	T302K	probably damaging	Het
Cdh9	A	G	15: 16,850,959	M605V	probably benign	Het
Cdk4	A	G	10: 127,064,911	E144G	possibly damaging	Het
Clasp1	C	T	1: 118,543,271	A879V	probably damaging	Het
Cldn8	G	A	16: 88,562,408	H210Y	probably benign	Het
Cntn5	T	C	9: 9,970,531	D518G	probably benign	Het
Cog1	C	T	11: 113,652,290	A208V	probably damaging	Het
Col4a2	T	A	8: 11,431,337	H836Q	possibly damaging	Het
Copb1	T	C	7: 114,248,976	D108G	probably damaging	Het
Csmd3	A	T	15: 48,161,083	Y600*	probably null	Het
Cyb5r1	T	A	1: 134,407,833	H164Q	probably benign	Het
Dkc1	A	G	X: 75,100,992	I215V	probably benign	Het
Enpep	A	G	3: 129,303,713		probably null	Het
Fam71b	T	A	11: 46,404,813	M4K	possibly damaging	Het
Fbln7	A	G	2: 128,894,886	Y311C	probably damaging	Het
Fign	A	C	2: 63,979,261	L555R	probably damaging	Het
Fkbp7	A	T	2: 76,671,688		probably benign	Het
Fmn2	T	C	1: 174,503,162	S373P	unknown	Het
Frmd4b	C	T	6: 97,295,666	D868N	possibly damaging	Het
Gfpt2	A	G	11: 49,823,737	N321S	probably benign	Het
Gm26602	C	T	10: 79,910,974		probably benign	Het
Gm6797	A	G	X: 8,639,694		noncoding transcript	Het
Gpat3	T	A	5: 100,893,456	F383L	probably damaging	Het
Grrp1	A	G	4: 134,251,436	S244P	probably damaging	Het
H2-M11	C	T	17: 36,548,150	T194I	possibly damaging	Het
Hcn1	C	T	13: 117,657,015	H268Y	probably benign	Het
Hectd4	G	T	5: 121,325,251	C2345F	possibly damaging	Het
Htt	A	G	5: 34,820,080	D770G	probably benign	Het
Ints3	T	C	3: 90,408,510	T316A	possibly damaging	Het
Ipo9	A	G	1: 135,394,169	F608L	probably benign	Het
Irak1	A	C	X: 74,022,389		probably benign	Het
Jam2	G	A	16: 84,812,952	V151M	probably damaging	Het
Lag3	T	A	6: 124,904,545	Q488L	possibly damaging	Het
Large2	A	T	2: 92,367,558	L266Q	probably benign	Het
Lrp3	T	G	7: 35,203,940	D327A	probably damaging	Het
Mamstr	C	A	7: 45,644,692		probably benign	Het
Mettl14	G	A	3: 123,369,414		probably benign	Het
Miga1	A	G	3: 152,322,475	V139A	probably damaging	Het
Mthfd2l	A	C	5: 90,948,911	R130S	probably benign	Het
Myo1b	A	G	1: 51,757,973	I970T	possibly damaging	Het
Nat10	C	A	2: 103,732,170	W607L	probably damaging	Het
Nop56	A	G	2: 130,278,273	T183A	probably benign	Het
Olfr1258	A	G	2: 89,930,664	Y285C	possibly damaging	Het
Olfr239	A	G	17: 33,199,393	H115R	probably benign	Het
Olfr291	T	A	7: 84,856,904	Y178*	probably null	Het
Olfr464	T	A	11: 87,914,310	M199L	probably benign	Het
Olfr592	A	G	7: 103,187,102	Y167C	probably benign	Het
Olfr710	A	T	7: 106,944,945	S19T	probably benign	Het
Pcdhb12	T	C	18: 37,436,949	F383L	probably damaging	Het
Pde4dip	C	A	3: 97,695,005	D2252Y	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Plscr2	T	G	9: 92,287,770	L91R	probably benign	Het
Plxnc1	T	A	10: 94,794,444	Y1531F	probably damaging	Het
Ptprq	A	T	10: 107,685,182	F710I	probably benign	Het
Rad51ap2	A	G	12: 11,456,551	E158G	probably damaging	Het
Rasip1	T	A	7: 45,627,823	H18Q	possibly damaging	Het
Rcsd1	T	A	1: 165,655,924	N166I	probably damaging	Het
Ripor1	T	A	8: 105,617,785	I517K	possibly damaging	Het
Ryr2	T	A	13: 11,824,369	H506L	probably benign	Het
Secisbp2l	C	T	2: 125,740,737	G933D	possibly damaging	Het
Sept14	T	C	5: 129,693,026	D202G	possibly damaging	Het
Siglec1	A	T	2: 131,073,411	L1420Q	possibly damaging	Het
Slc22a29	T	A	19: 8,161,584	I505F	possibly damaging	Het
Sorcs1	T	A	19: 50,182,669	Y927F	probably benign	Het
Spats2	T	G	15: 99,180,722	M191R	possibly damaging	Het
Sycp1	C	T	3: 102,922,462		probably null	Het
T2	A	G	17: 8,391,016	E99G	possibly damaging	Het
Taf3	G	A	2: 10,048,564		probably benign	Het
Tnfsf10	A	T	3: 27,335,579	N263I	probably damaging	Het
Treml2	A	T	17: 48,308,175	R229S	probably benign	Het
Trmt13	T	C	3: 116,589,755	K125E	probably damaging	Het
Ttc9	G	T	12: 81,631,601	C66F	probably damaging	Het
Vmn2r63	C	T	7: 42,928,120	M331I	probably benign	Het
Zfp353-ps	T	C	8: 42,082,214		noncoding transcript	Het
Zfp932	A	T	5: 110,009,894	H486L	probably damaging	Het

Other mutations in Glmn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00861:Glmn	APN	5	107570139	missense	possibly damaging	0.79
IGL00925:Glmn	APN	5	107557327	missense	probably damaging	1.00
IGL01092:Glmn	APN	5	107578512	critical splice acceptor site	probably null
IGL02503:Glmn	APN	5	107562778	missense	probably damaging	0.98
IGL02725:Glmn	APN	5	107575289	missense	possibly damaging	0.95
IGL03116:Glmn	APN	5	107551083	missense	probably damaging	1.00
mauna_kea	UTSW	5	107593880	critical splice acceptor site	probably null
pillow	UTSW	5	107549075	missense	probably benign	0.20
R0078:Glmn	UTSW	5	107557970	missense	probably benign	0.31
R0115:Glmn	UTSW	5	107560934	missense	probably benign	0.00
R0481:Glmn	UTSW	5	107560934	missense	probably benign	0.00
R1895:Glmn	UTSW	5	107570244	missense	probably benign	0.34
R1954:Glmn	UTSW	5	107572377	missense	probably damaging	1.00
R2090:Glmn	UTSW	5	107561928	missense	probably damaging	1.00
R2132:Glmn	UTSW	5	107578455	missense	probably damaging	0.98
R3962:Glmn	UTSW	5	107561045	intron	probably benign
R4296:Glmn	UTSW	5	107558502	missense	possibly damaging	0.52
R4591:Glmn	UTSW	5	107561051	critical splice donor site	probably null
R4992:Glmn	UTSW	5	107557301	missense	probably damaging	1.00
R5140:Glmn	UTSW	5	107570200	missense	probably damaging	0.99
R5215:Glmn	UTSW	5	107561886	missense	probably benign	0.03
R6035:Glmn	UTSW	5	107593880	critical splice acceptor site	probably null
R6035:Glmn	UTSW	5	107593880	critical splice acceptor site	probably null
R6116:Glmn	UTSW	5	107557340	missense	probably damaging	1.00
R6671:Glmn	UTSW	5	107549414	missense	probably benign	0.37
R7748:Glmn	UTSW	5	107562244	critical splice donor site	probably null
R7789:Glmn	UTSW	5	107549075	missense	probably benign	0.20
R8407:Glmn	UTSW	5	107570191	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- ATTTGCCTTGTGAATCCAACTTGTC -3'
(R):5'- CTGTGGCTTTTGCTAGTACATTAAG -3'

Sequencing Primer
(F):5'- ACTTGTCAATAAACAGCTGAAGC -3'
(R):5'- TGCATTATATTTCTGCA -3'

Posted On

2015-10-08