Mutagenetix > Incidental Mutation

Incidental Mutation 'R2090:Glmn'

231702

Institutional Source

Beutler Lab

Gene Symbol

Glmn

Ensembl Gene

ENSMUSG00000029276

Gene Name

glomulin, FKBP associated protein

Synonyms

9330160J16Rik, Fap68, Fap48

MMRRC Submission

040095-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2090 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107696833-107745754 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107709794 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 337 (L337F)

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: L337F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000077168
Gene: ENSMUSG00000029276
AA Change: L337F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000082121
AA Change: L337F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000080766
Gene: ENSMUSG00000029276
AA Change: L337F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000100949
AA Change: L337F

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

SMART Domains

Protein: ENSMUSP00000098509
Gene: ENSMUSG00000029276
AA Change: L337F

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	G	8: 25,391,456 (GRCm39)		probably null	Het
Adcy7	A	T	8: 89,042,485 (GRCm39)	T451S	probably damaging	Het
Adgrg3	A	T	8: 95,766,558 (GRCm39)	T410S	possibly damaging	Het
Alg11	G	T	8: 22,555,646 (GRCm39)	L302F	possibly damaging	Het
Ankrd17	A	G	5: 90,445,905 (GRCm39)	V310A	possibly damaging	Het
Atg16l2	C	T	7: 100,942,575 (GRCm39)		probably null	Het
B3gnt2	A	G	11: 22,786,291 (GRCm39)	V299A	probably benign	Het
Birc6	A	G	17: 74,969,791 (GRCm39)	N4258S	probably benign	Het
C2cd4d	A	G	3: 94,271,321 (GRCm39)	K196E	probably benign	Het
Calhm6	A	G	10: 34,002,358 (GRCm39)	S242P	probably damaging	Het
Cdr2l	A	G	11: 115,281,827 (GRCm39)	K111E	probably damaging	Het
Crtam	T	C	9: 40,895,612 (GRCm39)	Q41R	possibly damaging	Het
Cspp1	A	G	1: 10,160,493 (GRCm39)	K560R	possibly damaging	Het
Dcaf15	A	T	8: 84,824,400 (GRCm39)	Y571*	probably null	Het
Defa39	A	T	8: 22,192,805 (GRCm39)	W64R	possibly damaging	Het
Dpy19l4	T	C	4: 11,304,344 (GRCm39)	Y99C	probably benign	Het
Edem3	C	T	1: 151,680,577 (GRCm39)		probably benign	Het
Enpp6	A	T	8: 47,518,405 (GRCm39)		probably null	Het
Foxf2	T	A	13: 31,810,824 (GRCm39)	D254E	probably benign	Het
Gjb5	T	C	4: 127,249,794 (GRCm39)	N117D	probably benign	Het
Gsdmc2	T	A	15: 63,698,675 (GRCm39)	Y307F	probably benign	Het
Gsdmc3	T	A	15: 63,738,631 (GRCm39)	M144L	probably benign	Het
Ibtk	A	G	9: 85,603,046 (GRCm39)	I653T	probably benign	Het
Il24	T	G	1: 130,812,574 (GRCm39)	D99A	possibly damaging	Het
Intu	A	G	3: 40,637,966 (GRCm39)	Q484R	probably benign	Het
Iqca1l	A	G	5: 24,755,674 (GRCm39)	S283P	probably benign	Het
Lsp1	T	C	7: 142,045,544 (GRCm39)		probably benign	Het
Mad1l1	A	G	5: 139,995,011 (GRCm39)	S672P	probably benign	Het
Man2a2	A	T	7: 80,013,858 (GRCm39)		probably benign	Het
Morc3	C	A	16: 93,663,341 (GRCm39)	H515N	probably benign	Het
Nav1	T	C	1: 135,534,903 (GRCm39)		probably benign	Het
Ndor1	A	G	2: 25,139,230 (GRCm39)	L247P	probably damaging	Het
Nfkbiz	A	T	16: 55,636,818 (GRCm39)	F494L	probably benign	Het
Nr1d1	G	A	11: 98,661,436 (GRCm39)	P277S	probably damaging	Het
Nrg2	T	C	18: 36,151,496 (GRCm39)	D682G	probably benign	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Oasl1	G	A	5: 115,073,993 (GRCm39)	D301N	probably damaging	Het
Or10ag56	A	T	2: 87,139,762 (GRCm39)	I230F	probably benign	Het
Or14a258	A	T	7: 86,035,289 (GRCm39)	I193N	probably benign	Het
Or5h26	A	G	16: 58,988,503 (GRCm39)	M1T	probably null	Het
Palmd	A	G	3: 116,721,083 (GRCm39)	S123P	probably damaging	Het
Patj	A	G	4: 98,325,560 (GRCm39)		probably benign	Het
Pcsk4	T	C	10: 80,161,655 (GRCm39)	D162G	probably benign	Het
Plppr5	A	G	3: 117,369,520 (GRCm39)	D59G	possibly damaging	Het
Pmvk	A	C	3: 89,369,189 (GRCm39)	R11S	possibly damaging	Het
Pnliprp1	A	G	19: 58,728,901 (GRCm39)	T363A	probably benign	Het
Poll	A	T	19: 45,547,277 (GRCm39)	I65N	probably benign	Het
Prox1	T	A	1: 189,893,009 (GRCm39)	S479C	probably damaging	Het
Prss50	A	T	9: 110,691,361 (GRCm39)	S222C	probably damaging	Het
Rasa3	A	C	8: 13,632,381 (GRCm39)		probably benign	Het
Sec14l3	T	C	11: 4,025,481 (GRCm39)	V335A	probably benign	Het
Setbp1	C	T	18: 78,899,935 (GRCm39)	S1244N	probably benign	Het
Sgcg	A	T	14: 61,483,213 (GRCm39)	F63I	probably damaging	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Slc2a13	T	A	15: 91,400,695 (GRCm39)	I176F	probably benign	Het
Smc6	A	G	12: 11,339,987 (GRCm39)	T432A	probably benign	Het
Snx25	G	A	8: 46,509,150 (GRCm39)	P478L	probably damaging	Het
Taf2	A	T	15: 54,879,882 (GRCm39)	H1151Q	probably damaging	Het
Thsd1	A	G	8: 22,749,673 (GRCm39)	K795R	possibly damaging	Het
Tmem108	G	A	9: 103,361,976 (GRCm39)	L537F	possibly damaging	Het
Ubr3	T	C	2: 69,766,361 (GRCm39)	Y410H	probably damaging	Het
Vav3	T	C	3: 109,555,055 (GRCm39)		probably null	Het
Vmn1r224	T	C	17: 20,639,524 (GRCm39)	Y34H	probably benign	Het
Zeb1	T	C	18: 5,766,458 (GRCm39)	V323A	possibly damaging	Het
Zfp652	A	G	11: 95,644,834 (GRCm39)	D240G	probably benign	Het
Zfp963	A	T	8: 70,195,996 (GRCm39)	C152*	probably null	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
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
R4679:Glmn	UTSW	5	107,708,941 (GRCm39)	missense	probably damaging	1.00
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'- ACAAACAGTGAGTTGCAGCTCAG -3'
(R):5'- TCATTGTTTTCTTTCAGAACAGAACAG -3'

Sequencing Primer
(F):5'- TCACAGCAGCACTTACAGAGGTG -3'
(R):5'- GTGTACACTTGTAGAGGCCAG -3'

Posted On

2014-09-18