Mutagenetix > Incidental Mutation

Incidental Mutation 'R4679:Glmn'

349909

Institutional Source

Beutler Lab

Gene Symbol

Glmn

Ensembl Gene

ENSMUSG00000029276

Gene Name

glomulin, FKBP associated protein

Synonyms

9330160J16Rik, Fap68, Fap48

MMRRC Submission

041932-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4679 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107696833-107745754 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 107708941 bp (GRCm39)

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]

AlphaFold

Q8BZM1

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
AA986860	T	A	1: 130,670,140 (GRCm39)	S121T	possibly damaging	Het
Abcb9	A	G	5: 124,216,867 (GRCm39)	V450A	probably benign	Het
Abcg1	A	T	17: 31,333,235 (GRCm39)	R659S	probably benign	Het
Acad9	A	T	3: 36,142,989 (GRCm39)	N508I	possibly damaging	Het
Acrbp	T	A	6: 125,037,881 (GRCm39)	C393S	probably damaging	Het
Adcy7	T	C	8: 89,044,565 (GRCm39)	V486A	probably benign	Het
Adgrf1	G	T	17: 43,621,384 (GRCm39)	L540F	probably damaging	Het
Ap5m1	T	C	14: 49,316,285 (GRCm39)	I285T	probably benign	Het
Arhgap27	G	T	11: 103,251,775 (GRCm39)		probably benign	Het
Armc5	A	T	7: 127,839,276 (GRCm39)	E198V	possibly damaging	Het
Atp8b5	A	T	4: 43,365,955 (GRCm39)	K742M	probably benign	Het
Atp9a	T	G	2: 168,503,884 (GRCm39)	T603P	possibly damaging	Het
Bsn	A	G	9: 107,987,329 (GRCm39)	S2808P	unknown	Het
C9orf72	C	T	4: 35,226,033 (GRCm39)		probably benign	Het
Catsper4	T	C	4: 133,953,916 (GRCm39)	N81S	probably damaging	Het
Ccl17	C	G	8: 95,537,128 (GRCm39)	T10S	probably benign	Het
Cdc123	A	T	2: 5,849,703 (GRCm39)	V6D	probably damaging	Het
Cdca2	T	C	14: 67,952,415 (GRCm39)	K14E	possibly damaging	Het
Cdh3	C	A	8: 107,266,488 (GRCm39)	T302K	probably damaging	Het
Cdh9	A	G	15: 16,851,045 (GRCm39)	M605V	probably benign	Het
Cdk4	A	G	10: 126,900,780 (GRCm39)	E144G	possibly damaging	Het
Clasp1	C	T	1: 118,471,001 (GRCm39)	A879V	probably damaging	Het
Cldn8	G	A	16: 88,359,296 (GRCm39)	H210Y	probably benign	Het
Cntn5	T	C	9: 9,970,536 (GRCm39)	D518G	probably benign	Het
Cog1	C	T	11: 113,543,116 (GRCm39)	A208V	probably damaging	Het
Col4a2	T	A	8: 11,481,337 (GRCm39)	H836Q	possibly damaging	Het
Copb1	T	C	7: 113,848,211 (GRCm39)	D108G	probably damaging	Het
Csmd3	A	T	15: 48,024,479 (GRCm39)	Y600*	probably null	Het
Cyb5r1	T	A	1: 134,335,571 (GRCm39)	H164Q	probably benign	Het
Dkc1	A	G	X: 74,144,598 (GRCm39)	I215V	probably benign	Het
Enpep	A	G	3: 129,097,362 (GRCm39)		probably null	Het
Fam110d	A	G	4: 133,978,747 (GRCm39)	S244P	probably damaging	Het
Fbln7	A	G	2: 128,736,806 (GRCm39)	Y311C	probably damaging	Het
Fign	A	C	2: 63,809,605 (GRCm39)	L555R	probably damaging	Het
Fkbp7	A	T	2: 76,502,032 (GRCm39)		probably benign	Het
Fmn2	T	C	1: 174,330,728 (GRCm39)	S373P	unknown	Het
Frmd4b	C	T	6: 97,272,627 (GRCm39)	D868N	possibly damaging	Het
Garin3	T	A	11: 46,295,640 (GRCm39)	M4K	possibly damaging	Het
Gfpt2	A	G	11: 49,714,564 (GRCm39)	N321S	probably benign	Het
Gm26602	C	T	10: 79,746,808 (GRCm39)		probably benign	Het
Gm6797	A	G	X: 8,505,933 (GRCm39)		noncoding transcript	Het
Gpat3	T	A	5: 101,041,322 (GRCm39)	F383L	probably damaging	Het
H2-M11	C	T	17: 36,859,042 (GRCm39)	T194I	possibly damaging	Het
Hcn1	C	T	13: 117,793,551 (GRCm39)	H268Y	probably benign	Het
Hectd4	G	T	5: 121,463,314 (GRCm39)	C2345F	possibly damaging	Het
Htt	A	G	5: 34,977,424 (GRCm39)	D770G	probably benign	Het
Ints3	T	C	3: 90,315,817 (GRCm39)	T316A	possibly damaging	Het
Ipo9	A	G	1: 135,321,907 (GRCm39)	F608L	probably benign	Het
Irak1	A	C	X: 73,065,995 (GRCm39)		probably benign	Het
Jam2	G	A	16: 84,609,840 (GRCm39)	V151M	probably damaging	Het
Lag3	T	A	6: 124,881,508 (GRCm39)	Q488L	possibly damaging	Het
Large2	A	T	2: 92,197,903 (GRCm39)	L266Q	probably benign	Het
Lrp3	T	G	7: 34,903,365 (GRCm39)	D327A	probably damaging	Het
Mamstr	C	A	7: 45,294,116 (GRCm39)		probably benign	Het
Mettl14	G	A	3: 123,163,063 (GRCm39)		probably benign	Het
Miga1	A	G	3: 152,028,112 (GRCm39)	V139A	probably damaging	Het
Mthfd2l	A	C	5: 91,096,770 (GRCm39)	R130S	probably benign	Het
Myo1b	A	G	1: 51,797,132 (GRCm39)	I970T	possibly damaging	Het
Nat10	C	A	2: 103,562,515 (GRCm39)	W607L	probably damaging	Het
Nop56	A	G	2: 130,120,193 (GRCm39)	T183A	probably benign	Het
Or10h1	A	G	17: 33,418,367 (GRCm39)	H115R	probably benign	Het
Or2d4	A	T	7: 106,544,152 (GRCm39)	S19T	probably benign	Het
Or4c10	A	G	2: 89,761,008 (GRCm39)	Y285C	possibly damaging	Het
Or4d1	T	A	11: 87,805,136 (GRCm39)	M199L	probably benign	Het
Or52j3	A	G	7: 102,836,309 (GRCm39)	Y167C	probably benign	Het
Or5ae2	T	A	7: 84,506,112 (GRCm39)	Y178*	probably null	Het
Pcdhb12	T	C	18: 37,570,002 (GRCm39)	F383L	probably damaging	Het
Pde4dip	C	A	3: 97,602,321 (GRCm39)	D2252Y	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Plscr2	T	G	9: 92,169,823 (GRCm39)	L91R	probably benign	Het
Plxnc1	T	A	10: 94,630,306 (GRCm39)	Y1531F	probably damaging	Het
Ptprq	A	T	10: 107,521,043 (GRCm39)	F710I	probably benign	Het
Rad51ap2	A	G	12: 11,506,552 (GRCm39)	E158G	probably damaging	Het
Rasip1	T	A	7: 45,277,247 (GRCm39)	H18Q	possibly damaging	Het
Rcsd1	T	A	1: 165,483,493 (GRCm39)	N166I	probably damaging	Het
Ripor1	T	A	8: 106,344,417 (GRCm39)	I517K	possibly damaging	Het
Ryr2	T	A	13: 11,839,255 (GRCm39)	H506L	probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Septin14	T	C	5: 129,770,090 (GRCm39)	D202G	possibly damaging	Het
Siglec1	A	T	2: 130,915,331 (GRCm39)	L1420Q	possibly damaging	Het
Slc22a29	T	A	19: 8,138,948 (GRCm39)	I505F	possibly damaging	Het
Sorcs1	T	A	19: 50,171,107 (GRCm39)	Y927F	probably benign	Het
Spats2	T	G	15: 99,078,603 (GRCm39)	M191R	possibly damaging	Het
Sycp1	C	T	3: 102,829,778 (GRCm39)		probably null	Het
T2	A	G	17: 8,609,848 (GRCm39)	E99G	possibly damaging	Het
Taf3	G	A	2: 10,053,375 (GRCm39)		probably benign	Het
Tnfsf10	A	T	3: 27,389,728 (GRCm39)	N263I	probably damaging	Het
Treml2	A	T	17: 48,615,203 (GRCm39)	R229S	probably benign	Het
Trmt13	T	C	3: 116,383,404 (GRCm39)	K125E	probably damaging	Het
Ttc9	G	T	12: 81,678,375 (GRCm39)	C66F	probably damaging	Het
Vmn2r63	C	T	7: 42,577,544 (GRCm39)	M331I	probably benign	Het
Zfp353-ps	T	C	8: 42,535,251 (GRCm39)		noncoding transcript	Het
Zfp932	A	T	5: 110,157,760 (GRCm39)	H486L	probably damaging	Het

Other mutations in Glmn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00861:Glmn	APN	5	107,718,005 (GRCm39)	missense	possibly damaging	0.79
IGL00925:Glmn	APN	5	107,705,193 (GRCm39)	missense	probably damaging	1.00
IGL01092:Glmn	APN	5	107,726,378 (GRCm39)	critical splice acceptor site	probably null
IGL02503:Glmn	APN	5	107,710,644 (GRCm39)	missense	probably damaging	0.98
IGL02725:Glmn	APN	5	107,723,155 (GRCm39)	missense	possibly damaging	0.95
IGL03116:Glmn	APN	5	107,698,949 (GRCm39)	missense	probably damaging	1.00
mauna_kea	UTSW	5	107,741,746 (GRCm39)	critical splice acceptor site	probably null
pillow	UTSW	5	107,696,941 (GRCm39)	missense	probably benign	0.20
R0078:Glmn	UTSW	5	107,705,836 (GRCm39)	missense	probably benign	0.31
R0115:Glmn	UTSW	5	107,708,800 (GRCm39)	missense	probably benign	0.00
R0481:Glmn	UTSW	5	107,708,800 (GRCm39)	missense	probably benign	0.00
R1895:Glmn	UTSW	5	107,718,110 (GRCm39)	missense	probably benign	0.34
R1954:Glmn	UTSW	5	107,720,243 (GRCm39)	missense	probably damaging	1.00
R2090:Glmn	UTSW	5	107,709,794 (GRCm39)	missense	probably damaging	1.00
R2132:Glmn	UTSW	5	107,726,321 (GRCm39)	missense	probably damaging	0.98
R3962:Glmn	UTSW	5	107,708,911 (GRCm39)	intron	probably benign
R4296:Glmn	UTSW	5	107,706,368 (GRCm39)	missense	possibly damaging	0.52
R4591:Glmn	UTSW	5	107,708,917 (GRCm39)	critical splice donor site	probably null
R4992:Glmn	UTSW	5	107,705,167 (GRCm39)	missense	probably damaging	1.00
R5140:Glmn	UTSW	5	107,718,066 (GRCm39)	missense	probably damaging	0.99
R5215:Glmn	UTSW	5	107,709,752 (GRCm39)	missense	probably benign	0.03
R6035:Glmn	UTSW	5	107,741,746 (GRCm39)	critical splice acceptor site	probably null
R6035:Glmn	UTSW	5	107,741,746 (GRCm39)	critical splice acceptor site	probably null
R6116:Glmn	UTSW	5	107,705,206 (GRCm39)	missense	probably damaging	1.00
R6671:Glmn	UTSW	5	107,697,280 (GRCm39)	missense	probably benign	0.37
R7748:Glmn	UTSW	5	107,710,110 (GRCm39)	critical splice donor site	probably null
R7789:Glmn	UTSW	5	107,696,941 (GRCm39)	missense	probably benign	0.20
R8407:Glmn	UTSW	5	107,718,057 (GRCm39)	missense	probably benign	0.19
R8725:Glmn	UTSW	5	107,718,152 (GRCm39)	missense	probably benign	0.01
R8727:Glmn	UTSW	5	107,718,152 (GRCm39)	missense	probably benign	0.01
R9535:Glmn	UTSW	5	107,706,368 (GRCm39)	missense	possibly damaging	0.52
R9612:Glmn	UTSW	5	107,741,731 (GRCm39)	missense	probably damaging	1.00

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