Mutagenetix > Incidental Mutation

Incidental Mutation 'R7789:Glmn'

599723

Institutional Source

Beutler Lab

Gene Symbol

Glmn

Ensembl Gene

ENSMUSG00000029276

Gene Name

glomulin, FKBP associated protein

Synonyms

9330160J16Rik, Fap68, Fap48

MMRRC Submission

045845-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7789 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107696833-107745754 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 107696941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 592 (N592T)

Ref Sequence

ENSEMBL: ENSMUSP00000077168 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058921] [ENSMUST00000078021] [ENSMUST00000082121] [ENSMUST00000100949] [ENSMUST00000124546] [ENSMUST00000159902] [ENSMUST00000160160]

AlphaFold

Q8BZM1

Predicted Effect

probably benign
Transcript: ENSMUST00000058921

SMART Domains

Protein: ENSMUSP00000058373
Gene: ENSMUSG00000089798

Domain	Start	End	E-Value	Type
Pfam:DUF4580	12	173	1.4e-81	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000078021
AA Change: N592T

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000077168
Gene: ENSMUSG00000029276
AA Change: N592T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000082121
AA Change: N592T

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000080766
Gene: ENSMUSG00000029276
AA Change: N592T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000100949
AA Change: N528T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000098509
Gene: ENSMUSG00000029276
AA Change: N528T

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

Predicted Effect

probably null
Transcript: ENSMUST00000159902

SMART Domains

Protein: ENSMUSP00000124574
Gene: ENSMUSG00000089798

Domain	Start	End	E-Value	Type
Pfam:DUF4580	10	177	1.4e-80	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000160160

SMART Domains

Protein: ENSMUSP00000124398
Gene: ENSMUSG00000106631

Domain	Start	End	E-Value	Type
Pfam:DUF4580	10	140	1.5e-61	PFAM

Meta Mutation Damage Score

0.0641

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

99% (77/78)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	A	16: 4,682,175 (GRCm39)	E163K	probably benign	Het
Adam34	T	A	8: 44,105,488 (GRCm39)	R52S	probably benign	Het
Adcy8	A	T	15: 64,743,623 (GRCm39)	C328*	probably null	Het
Ankrd26	G	T	6: 118,504,760 (GRCm39)	S716R	possibly damaging	Het
Ankrd26	G	T	6: 118,504,759 (GRCm39)	H717N	probably damaging	Het
Ankrd40	C	A	11: 94,225,535 (GRCm39)	P189T	probably damaging	Het
Anln	A	G	9: 22,263,333 (GRCm39)	S113P		Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Asxl1	C	T	2: 153,241,943 (GRCm39)	T832I	probably benign	Het
Bicd2	C	T	13: 49,533,135 (GRCm39)	R574C	probably damaging	Het
Boll	T	C	1: 55,399,826 (GRCm39)		probably null	Het
Casr	A	G	16: 36,315,653 (GRCm39)	F806L	probably damaging	Het
Casz1	C	A	4: 149,013,863 (GRCm39)	N142K	probably benign	Het
Cbl	C	T	9: 44,074,764 (GRCm39)	D433N	probably damaging	Het
Ceacam14	T	A	7: 17,548,096 (GRCm39)	V62D	probably damaging	Het
Chst10	T	C	1: 38,923,532 (GRCm39)	N18S	probably benign	Het
Cyp2j6	C	T	4: 96,433,953 (GRCm39)	R119H	probably benign	Het
Cyp4a14	C	G	4: 115,352,107 (GRCm39)	V102L	probably benign	Het
Dnajb3	A	T	1: 88,133,399 (GRCm39)	M1K	probably null	Het
Dnajc6	A	T	4: 101,475,729 (GRCm39)	K534M	possibly damaging	Het
Dnase2a	T	C	8: 85,635,505 (GRCm39)		probably null	Het
Dock10	A	G	1: 80,536,930 (GRCm39)	I985T	possibly damaging	Het
Emsy	G	T	7: 98,270,696 (GRCm39)	P436Q	probably damaging	Het
Enpp1	A	T	10: 24,529,981 (GRCm39)		probably null	Het
Erc1	T	A	6: 119,750,670 (GRCm39)	R353*	probably null	Het
Fbn2	T	A	18: 58,172,385 (GRCm39)	D2140V	probably benign	Het
Fgfr1	T	A	8: 26,052,329 (GRCm39)	Y218*	probably null	Het
Fhod1	C	T	8: 106,056,740 (GRCm39)	R1045H	probably damaging	Het
Focad	G	T	4: 88,147,643 (GRCm39)	L427F	unknown	Het
Gbf1	T	A	19: 46,242,441 (GRCm39)	L144M	probably damaging	Het
Golgb1	C	G	16: 36,695,761 (GRCm39)	P87A	unknown	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Insyn2b	T	A	11: 34,352,537 (GRCm39)	M193K	probably benign	Het
Itga9	T	G	9: 118,487,564 (GRCm39)	F216V	possibly damaging	Het
Klhl18	T	C	9: 110,268,076 (GRCm39)	D149G	unknown	Het
Lcat	C	T	8: 106,668,857 (GRCm39)	V114M	probably benign	Het
Lrrc8c	C	A	5: 105,755,066 (GRCm39)	N280K	probably damaging	Het
Mettl8	T	C	2: 70,796,806 (GRCm39)	Y283C	probably damaging	Het
Mgat4a	A	T	1: 37,529,360 (GRCm39)	I173K	probably damaging	Het
Mmp1a	T	C	9: 7,475,266 (GRCm39)	V345A	possibly damaging	Het
Mok	T	A	12: 110,778,261 (GRCm39)	H215L	probably damaging	Het
Mphosph9	C	G	5: 124,453,650 (GRCm39)	E221Q	probably damaging	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Myom1	A	G	17: 71,424,431 (GRCm39)	T1525A	probably benign	Het
Nap1l1	C	T	10: 111,326,317 (GRCm39)	S143L	probably benign	Het
Or1af1	C	T	2: 37,109,672 (GRCm39)	T57I	probably benign	Het
Or2j6	A	T	7: 139,980,610 (GRCm39)	Y116*	probably null	Het
Or52d1	T	A	7: 103,756,195 (GRCm39)	S236R	probably damaging	Het
Or7g29	G	T	9: 19,286,361 (GRCm39)	T272K	probably benign	Het
Plbd2	T	C	5: 120,623,819 (GRCm39)	S568G	probably damaging	Het
Plxna4	T	A	6: 32,183,168 (GRCm39)		probably null	Het
Plxnc1	T	A	10: 94,630,339 (GRCm39)	E1520V	probably damaging	Het
Ppil3	G	A	1: 58,473,538 (GRCm39)	T104I	possibly damaging	Het
Ptprm	A	T	17: 67,402,534 (GRCm39)	V118E	probably damaging	Het
Rimbp2	T	C	5: 128,851,399 (GRCm39)	D849G	probably damaging	Het
Rnf213	T	C	11: 119,361,045 (GRCm39)		probably null	Het
Sema3f	T	A	9: 107,582,631 (GRCm39)	K37N	probably benign	Het
Sh3glb1	G	T	3: 144,397,892 (GRCm39)		probably null	Het
Sh3rf3	A	G	10: 58,922,637 (GRCm39)	D571G	probably benign	Het
Sipa1l3	T	C	7: 29,077,150 (GRCm39)	Y874C	probably damaging	Het
Smchd1	G	A	17: 71,782,296 (GRCm39)		probably benign	Het
Snrnp70	A	T	7: 45,026,045 (GRCm39)	Y441*	probably null	Het
Ssrp1	C	T	2: 84,871,525 (GRCm39)	R316W	probably damaging	Het
Syt10	A	T	15: 89,711,101 (GRCm39)	V144E	probably damaging	Het
Tdrd12	A	G	7: 35,188,117 (GRCm39)	L562P		Het
Trim68	T	C	7: 102,333,676 (GRCm39)	D2G	possibly damaging	Het
Trub2	T	A	2: 29,667,920 (GRCm39)	H240L	probably damaging	Het
Tssc4	A	G	7: 142,623,515 (GRCm39)		probably null	Het
Usp7	T	A	16: 8,516,675 (GRCm39)	Q539L	probably benign	Het
Vmn2r17	T	A	5: 109,600,831 (GRCm39)	C710S	possibly damaging	Het
Vmn2r99	G	T	17: 19,614,079 (GRCm39)	V600F	possibly damaging	Het
Vps13d	C	T	4: 144,826,635 (GRCm39)	V2879M		Het
Vrtn	T	A	12: 84,697,080 (GRCm39)	M610K	probably benign	Het
Xpo4	T	C	14: 57,850,806 (GRCm39)	E366G	probably benign	Het
Zyg11a	G	A	4: 108,040,845 (GRCm39)	P703S	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
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
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'- GATATGTATCAGAAACTTGCAAGCC -3'
(R):5'- GGCAGCACTAATAACACAGATGTC -3'

Sequencing Primer
(F):5'- TTATGGTGGTATAAAGT -3'
(R):5'- TGGGATCATGGTCCTGGAACC -3'

Posted On

2019-11-26