Mutagenetix > Incidental Mutation

Incidental Mutation 'R5215:Glmn'

403405

Institutional Source

Beutler Lab

Gene Symbol

Glmn

Ensembl Gene

ENSMUSG00000029276

Gene Name

glomulin, FKBP associated protein

Synonyms

9330160J16Rik, Fap68, Fap48

MMRRC Submission

042788-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5215 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107696833-107745754 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107709752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 351 (C351R)

Ref Sequence

ENSEMBL: ENSMUSP00000098509 (fasta)

Gene Model

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

AlphaFold

Q8BZM1

Predicted Effect

probably benign
Transcript: ENSMUST00000078021
AA Change: C351R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000077168
Gene: ENSMUSG00000029276
AA Change: C351R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000082121
AA Change: C351R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000080766
Gene: ENSMUSG00000029276
AA Change: C351R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000100949
AA Change: C351R

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000098509
Gene: ENSMUSG00000029276
AA Change: C351R

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (79/79)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alas1	C	A	9: 106,120,574 (GRCm39)	A73S	probably benign	Het
Aldoart2	G	A	12: 55,612,204 (GRCm39)	R43Q	probably benign	Het
Ano4	T	C	10: 89,153,165 (GRCm39)	H49R	possibly damaging	Het
Atic	T	C	1: 71,603,666 (GRCm39)	S161P	probably damaging	Het
Atp6v1c2	T	C	12: 17,341,659 (GRCm39)	E244G	probably benign	Het
Cd164l2	C	A	4: 132,948,789 (GRCm39)	L42I	unknown	Het
Cdc42ep2	T	C	19: 5,968,238 (GRCm39)	R156G	probably benign	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Cdk5	T	A	5: 24,624,459 (GRCm39)	N265I	probably benign	Het
Cfap69	G	T	5: 5,639,133 (GRCm39)	N262K	possibly damaging	Het
Chd6	C	T	2: 160,791,873 (GRCm39)	V2495M	probably damaging	Het
Cps1	T	A	1: 67,205,539 (GRCm39)	F521I	possibly damaging	Het
Crb2	A	G	2: 37,683,765 (GRCm39)	E1089G	probably benign	Het
Decr1	T	C	4: 15,929,795 (GRCm39)	D166G	probably damaging	Het
Dhodh	G	A	8: 110,332,975 (GRCm39)		probably benign	Het
Dnaaf5	G	A	5: 139,147,632 (GRCm39)	V399I	probably benign	Het
Dnah11	T	C	12: 118,121,096 (GRCm39)	T526A	probably benign	Het
Drosha	T	C	15: 12,885,219 (GRCm39)		probably benign	Het
Elfn2	T	A	15: 78,558,401 (GRCm39)	I49F	probably damaging	Het
Gabra1	T	C	11: 42,045,655 (GRCm39)	T152A	probably damaging	Het
Gigyf2	C	A	1: 87,292,988 (GRCm39)	T85K	probably damaging	Het
Gimap8	A	T	6: 48,628,017 (GRCm39)	Y258F	possibly damaging	Het
Gm10032	T	C	14: 67,029,998 (GRCm39)		noncoding transcript	Het
Gorasp2	G	A	2: 70,519,598 (GRCm39)	A328T	probably benign	Het
Grin1	A	T	2: 25,193,919 (GRCm39)	H392Q	probably benign	Het
Gzmn	A	G	14: 56,405,319 (GRCm39)	V55A	probably damaging	Het
Herc4	T	A	10: 63,124,876 (GRCm39)	S497T	probably benign	Het
Hrc	A	T	7: 44,985,515 (GRCm39)	D222V	probably damaging	Het
Iars2	T	C	1: 185,026,966 (GRCm39)	H761R	probably damaging	Het
Jmjd1c	T	A	10: 67,076,480 (GRCm39)	D2101E	possibly damaging	Het
Kcng1	C	T	2: 168,105,053 (GRCm39)	M264I	probably benign	Het
Klra14-ps	C	A	6: 130,134,646 (GRCm39)		noncoding transcript	Het
Krtap5-3	T	A	7: 141,755,974 (GRCm39)	C270*	probably null	Het
Lama3	A	G	18: 12,710,957 (GRCm39)	H3164R	probably damaging	Het
Lcor	T	C	19: 41,574,371 (GRCm39)	I1042T	probably damaging	Het
Mdn1	T	C	4: 32,741,418 (GRCm39)	M3840T	possibly damaging	Het
Mtor	A	T	4: 148,538,440 (GRCm39)	H166L	probably benign	Het
Mx1	T	C	16: 97,249,560 (GRCm39)	N556D	possibly damaging	Het
Oca2	A	T	7: 55,945,246 (GRCm39)	R285*	probably null	Het
Or12d13	T	A	17: 37,647,704 (GRCm39)	I140F	probably benign	Het
Or2at1	A	G	7: 99,416,717 (GRCm39)	E116G	probably damaging	Het
Or4k39	T	C	2: 111,239,631 (GRCm39)		noncoding transcript	Het
Or56a3b	G	A	7: 104,775,771 (GRCm39)	H246Y	probably damaging	Het
Or8g33	A	T	9: 39,337,919 (GRCm39)	Y149*	probably null	Het
Pan3	A	G	5: 147,391,915 (GRCm39)		probably null	Het
Pard3	G	A	8: 128,104,745 (GRCm39)	V496M	probably damaging	Het
Pdcd2l	A	T	7: 33,892,314 (GRCm39)	V185D	possibly damaging	Het
Pgghg	T	C	7: 140,526,477 (GRCm39)	V623A	possibly damaging	Het
Pigu	C	A	2: 155,177,249 (GRCm39)		probably benign	Het
Pkmyt1	G	A	17: 23,951,566 (GRCm39)	R40Q	probably benign	Het
Prag1	G	A	8: 36,567,043 (GRCm39)	A65T	probably benign	Het
Prkdc	C	A	16: 15,589,985 (GRCm39)	T2616N	possibly damaging	Het
Prpf8	G	A	11: 75,391,030 (GRCm39)	E1360K	probably benign	Het
Ptprt	C	T	2: 162,120,084 (GRCm39)	V128M	probably damaging	Het
Rp1l1	C	T	14: 64,267,462 (GRCm39)	S1016L	probably benign	Het
Rprd1a	G	T	18: 24,621,257 (GRCm39)	D307E	probably damaging	Het
Slc11a1	A	T	1: 74,422,936 (GRCm39)		probably benign	Het
Slc22a16	T	A	10: 40,457,386 (GRCm39)	M209K	probably damaging	Het
Slf2	T	G	19: 44,936,476 (GRCm39)	L707R	probably damaging	Het
Son	T	A	16: 91,453,563 (GRCm39)	M770K	probably damaging	Het
Taf6l	T	C	19: 8,755,417 (GRCm39)		probably benign	Het
Tbc1d2	C	A	4: 46,614,006 (GRCm39)	V692L	probably benign	Het
Tnpo3	C	T	6: 29,582,152 (GRCm39)		probably benign	Het
Txndc16	A	T	14: 45,448,597 (GRCm39)		probably benign	Het
Ubr1	T	C	2: 120,734,525 (GRCm39)	K1125R	probably benign	Het
Vmn2r9	A	G	5: 108,994,351 (GRCm39)	S433P	probably benign	Het
Zc3h12a	A	G	4: 125,020,706 (GRCm39)	S46P	probably benign	Het
Zwilch	T	G	9: 64,054,156 (GRCm39)	I490L	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
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'- GGAAGTCACAGCAGCACTTAC -3'
(R):5'- CAGAACAGAACAGTCTATTTACTCC -3'

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

Posted On

2016-07-22