Mutagenetix > Incidental Mutation

Incidental Mutation 'R6035:Glmn'

479136

Institutional Source

Beutler Lab

Gene Symbol

Glmn

Ensembl Gene

ENSMUSG00000029276

Gene Name

glomulin, FKBP associated protein

Synonyms

9330160J16Rik, Fap68, Fap48

MMRRC Submission

044207-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6035 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107696833-107745754 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 107741746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123224 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065422] [ENSMUST00000078021] [ENSMUST00000082121] [ENSMUST00000100949] [ENSMUST00000112650] [ENSMUST00000112651] [ENSMUST00000112654] [ENSMUST00000124140] [ENSMUST00000124546] [ENSMUST00000129483] [ENSMUST00000112655] [ENSMUST00000150074]

AlphaFold

Q8BZM1

Predicted Effect

probably benign
Transcript: ENSMUST00000065422

SMART Domains

Protein: ENSMUSP00000070209
Gene: ENSMUSG00000033773

Domain	Start	End	E-Value	Type
Pfam:RPAP2_Rtr1	80	152	3.6e-26	PFAM
low complexity region	208	221	N/A	INTRINSIC
low complexity region	373	384	N/A	INTRINSIC
low complexity region	559	573	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000078021

SMART Domains

Protein: ENSMUSP00000077168
Gene: ENSMUSG00000029276

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

Predicted Effect

probably null
Transcript: ENSMUST00000082121

SMART Domains

Protein: ENSMUSP00000080766
Gene: ENSMUSG00000029276

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

Predicted Effect

probably null
Transcript: ENSMUST00000100949

SMART Domains

Protein: ENSMUSP00000098509
Gene: ENSMUSG00000029276

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: ENSMUST00000112650

SMART Domains

Protein: ENSMUSP00000108269
Gene: ENSMUSG00000033773

Domain	Start	End	E-Value	Type
Pfam:RPAP2_Rtr1	1	74	1.7e-28	PFAM
low complexity region	129	142	N/A	INTRINSIC
low complexity region	294	305	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112651

SMART Domains

Protein: ENSMUSP00000108270
Gene: ENSMUSG00000033773

Domain	Start	End	E-Value	Type
Pfam:RPAP2_Rtr1	1	76	1.9e-28	PFAM
low complexity region	131	144	N/A	INTRINSIC
low complexity region	296	307	N/A	INTRINSIC
low complexity region	482	496	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112654

SMART Domains

Protein: ENSMUSP00000108273
Gene: ENSMUSG00000033773

Domain	Start	End	E-Value	Type
Pfam:RPAP2_Rtr1	78	153	1.8e-28	PFAM
low complexity region	208	221	N/A	INTRINSIC
low complexity region	373	384	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000124140

SMART Domains

Protein: ENSMUSP00000123224
Gene: ENSMUSG00000029276

Domain	Start	End	E-Value	Type
Pfam:Kinetochor_Ybp2	1	100	5.8e-19	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

noncoding transcript
Transcript: ENSMUST00000148505

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143113

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147284

Predicted Effect

probably benign
Transcript: ENSMUST00000129483

SMART Domains

Protein: ENSMUSP00000142510
Gene: ENSMUSG00000033773

Domain	Start	End	E-Value	Type
Pfam:RPAP2_Rtr1	1	74	5.2e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112655

SMART Domains

Protein: ENSMUSP00000108274
Gene: ENSMUSG00000033773

Domain	Start	End	E-Value	Type
Pfam:RPAP2_Rtr1	78	153	4.1e-28	PFAM
low complexity region	208	221	N/A	INTRINSIC
low complexity region	373	384	N/A	INTRINSIC
low complexity region	560	570	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150074

Meta Mutation Damage Score

0.9482

Coding Region Coverage

1x: 99.8%
3x: 98.9%
10x: 91.8%
20x: 70.9%

Validation Efficiency

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	T	6: 121,615,353 (GRCm39)	G76W	probably damaging	Het
Abca17	A	T	17: 24,500,219 (GRCm39)	F1324Y	possibly damaging	Het
Abca8b	A	T	11: 109,862,686 (GRCm39)		probably null	Het
Abcc12	A	G	8: 87,244,033 (GRCm39)	M1040T	probably damaging	Het
Abtb1	A	G	6: 88,818,788 (GRCm39)	F7L	probably damaging	Het
Adcy9	T	C	16: 4,122,377 (GRCm39)	T558A	probably benign	Het
Adgrb1	A	T	15: 74,412,292 (GRCm39)	T424S	possibly damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ankrd31	C	A	13: 96,968,721 (GRCm39)	P786Q	probably benign	Het
Arhgap39	G	T	15: 76,621,424 (GRCm39)	Y392*	probably null	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Carmil2	G	T	8: 106,419,195 (GRCm39)	W749L	probably benign	Het
Ccar1	A	G	10: 62,587,564 (GRCm39)	Y867H	unknown	Het
Cdh13	A	G	8: 119,232,437 (GRCm39)	D47G	probably benign	Het
Chst9	T	A	18: 15,585,910 (GRCm39)	T218S	probably benign	Het
Clec2i	G	A	6: 128,870,587 (GRCm39)	V67I	probably benign	Het
Cox7a2	T	A	9: 79,667,028 (GRCm39)		probably benign	Het
Cplx3	A	G	9: 57,519,030 (GRCm39)		probably null	Het
Cpz	A	G	5: 35,674,929 (GRCm39)	C107R	probably damaging	Het
Dapk1	T	A	13: 60,909,013 (GRCm39)	C1209S	possibly damaging	Het
Ddx41	T	C	13: 55,681,781 (GRCm39)	M307V	probably benign	Het
Defa24	A	G	8: 22,224,565 (GRCm39)	I5V	probably benign	Het
Dgcr8	A	T	16: 18,076,178 (GRCm39)	N2K	probably damaging	Het
Ebf2	A	G	14: 67,476,423 (GRCm39)	D131G	probably damaging	Het
Fam149b	C	T	14: 20,427,985 (GRCm39)	R424C	probably damaging	Het
Fbln2	G	A	6: 91,240,335 (GRCm39)	V714M	probably damaging	Het
Fgf5	T	C	5: 98,423,385 (GRCm39)	Y257H	probably damaging	Het
Fmo3	A	C	1: 162,791,605 (GRCm39)	V224G	probably damaging	Het
Gigyf2	T	C	1: 87,338,450 (GRCm39)	I394T	possibly damaging	Het
Greb1l	T	C	18: 10,501,025 (GRCm39)	I385T	possibly damaging	Het
Grhl1	C	A	12: 24,658,449 (GRCm39)	Q365K	probably benign	Het
Gsdme	G	A	6: 50,206,306 (GRCm39)	T179M	probably damaging	Het
Gtf2a1l	A	G	17: 89,018,962 (GRCm39)	T349A	probably benign	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Il5ra	G	A	6: 106,718,226 (GRCm39)	T76I	probably damaging	Het
Itga8	T	C	2: 12,196,525 (GRCm39)	T631A	probably benign	Het
Kcnh6	G	A	11: 105,909,978 (GRCm39)		probably null	Het
Krt26	C	T	11: 99,224,415 (GRCm39)	E368K	probably benign	Het
Lhx9	T	C	1: 138,766,281 (GRCm39)	D169G	possibly damaging	Het
Lmod3	A	G	6: 97,224,234 (GRCm39)	L529P	probably damaging	Het
Mroh2a	G	A	1: 88,158,390 (GRCm39)	V146M	probably damaging	Het
Nup155	A	G	15: 8,173,577 (GRCm39)	T891A	probably benign	Het
Or11g24	A	G	14: 50,661,984 (GRCm39)	T3A	probably benign	Het
Or1e1	T	C	11: 73,244,582 (GRCm39)	M1T	probably null	Het
Or1j13	T	A	2: 36,369,996 (GRCm39)	I49F	probably damaging	Het
Or1p4-ps1	T	C	11: 74,208,285 (GRCm39)	*145R	probably null	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Papln	G	C	12: 83,821,454 (GRCm39)	G262A	probably damaging	Het
Pdcd1lg2	G	A	19: 29,423,435 (GRCm39)	V160I	probably benign	Het
Pde8b	A	G	13: 95,164,105 (GRCm39)		probably benign	Het
Ppme1	G	A	7: 100,004,002 (GRCm39)	R68*	probably null	Het
Ptprn2	A	T	12: 117,219,215 (GRCm39)	N949Y	probably damaging	Het
Qser1	C	A	2: 104,617,468 (GRCm39)	D1115Y	probably damaging	Het
Rad54l	G	T	4: 115,954,666 (GRCm39)	D674E	probably damaging	Het
Ripk4	T	A	16: 97,545,387 (GRCm39)	D420V	probably damaging	Het
Ros1	G	T	10: 51,954,067 (GRCm39)	S1857R	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Rsf1	A	G	7: 97,311,316 (GRCm39)	E682G	probably benign	Het
Samd4	G	A	14: 47,325,329 (GRCm39)	R515H	probably damaging	Het
Selp	T	A	1: 163,969,079 (GRCm39)	W560R	probably benign	Het
Shc3	A	T	13: 51,615,468 (GRCm39)	L163Q	probably damaging	Het
Shh	G	A	5: 28,666,397 (GRCm39)	A163V	probably damaging	Het
Slc17a8	T	C	10: 89,427,937 (GRCm39)	R113G	possibly damaging	Het
Slc5a6	C	A	5: 31,206,168 (GRCm39)		probably benign	Het
Smarcd2	A	G	11: 106,157,715 (GRCm39)		probably null	Het
Sytl3	A	G	17: 6,995,664 (GRCm39)	D148G	probably damaging	Het
Tnks	G	T	8: 35,385,615 (GRCm39)	H297Q	possibly damaging	Het
Trbv21	A	T	6: 41,179,568 (GRCm39)		probably benign	Het
Ube3c	T	C	5: 29,806,161 (GRCm39)	F268L	probably benign	Het
Ugt2b5	T	C	5: 87,287,541 (GRCm39)	I209V	probably benign	Het
Usp1	A	G	4: 98,818,082 (GRCm39)	N140S	probably damaging	Het
Vcam1	T	C	3: 115,919,606 (GRCm39)	Y226C	probably damaging	Het
Vmn1r129	T	A	7: 21,094,534 (GRCm39)	Q228L	probably damaging	Het
Vmn1r209	T	A	13: 22,990,202 (GRCm39)	N163Y	probably benign	Het
Vmn1r85	A	G	7: 12,818,854 (GRCm39)	S97P	probably damaging	Het
Vmn2r30	C	T	7: 7,337,350 (GRCm39)	M95I	probably benign	Het
Vmn2r74	G	A	7: 85,601,098 (GRCm39)	R847C	probably damaging	Het
Wdr70	G	A	15: 7,916,830 (GRCm39)	T529I	possibly damaging	Het
Zfp532	T	G	18: 65,757,005 (GRCm39)	S313A	possibly damaging	Het
Zhx3	A	T	2: 160,621,463 (GRCm39)	N901K	probably benign	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
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
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

Posted On

2017-06-26