Mutagenetix > Incidental Mutation

Incidental Mutation 'R9009:Emcn'

685489

Institutional Source

Beutler Lab

Gene Symbol

Emcn

Ensembl Gene

ENSMUSG00000054690

Gene Name

endomucin

Synonyms

0610012K22Rik

MMRRC Submission

068839-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9009 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137046824-137136830 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137124775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 196 (V196A)

Ref Sequence

ENSEMBL: ENSMUSP00000112603 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119475] [ENSMUST00000122064] [ENSMUST00000197511]

AlphaFold

Q9R0H2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119475
AA Change: V183A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114102
Gene: ENSMUSG00000054690
AA Change: V183A

Domain	Start	End	E-Value	Type
Pfam:Endomucin	1	248	5.2e-135	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000122064
AA Change: V196A

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112603
Gene: ENSMUSG00000054690
AA Change: V196A

Domain	Start	End	E-Value	Type
Pfam:Endomucin	1	261	4e-112	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000197511
AA Change: V158A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142467
Gene: ENSMUSG00000054690
AA Change: V158A

Domain	Start	End	E-Value	Type
Pfam:Endomucin	1	92	1.3e-38	PFAM
Pfam:Endomucin	89	219	4.8e-80	PFAM

Meta Mutation Damage Score

0.5556

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

94% (58/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] EMCN is a mucin-like sialoglycoprotein that interferes with the assembly of focal adhesion complexes and inhibits interaction between cells and the extracellular matrix (Kinoshita et al., 2001 [PubMed 11418125]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	T	A	8: 120,878,279 (GRCm39)		probably benign	Het
Ahctf1	C	T	1: 179,581,171 (GRCm39)	S1677N	probably benign	Het
Ank2	T	C	3: 126,728,025 (GRCm39)		probably benign	Het
Arid3c	A	T	4: 41,729,925 (GRCm39)	I90N	probably benign	Het
Asb1	C	A	1: 91,480,205 (GRCm39)	D301E	unknown	Het
Asb1	T	G	1: 91,480,206 (GRCm39)	*302G	probably null	Het
Birc2	A	T	9: 7,833,937 (GRCm39)	F181L	probably benign	Het
Bnip1	T	A	17: 27,001,590 (GRCm39)		probably benign	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cd2ap	T	C	17: 43,116,135 (GRCm39)	D575G	possibly damaging	Het
Cdca7	T	A	2: 72,314,273 (GRCm39)	H248Q	probably damaging	Het
Chd2	T	C	7: 73,143,192 (GRCm39)	D567G	probably benign	Het
Chd2	T	C	7: 73,140,402 (GRCm39)	I609V	probably benign	Het
Cnmd	T	A	14: 79,894,085 (GRCm39)	T101S	probably damaging	Het
Col6a4	T	C	9: 105,954,404 (GRCm39)	T312A	probably benign	Het
Cript	C	A	17: 87,338,475 (GRCm39)	T41N	probably damaging	Het
Cts6	T	C	13: 61,344,261 (GRCm39)	I264V	probably benign	Het
Cyp4a32	C	T	4: 115,467,802 (GRCm39)	T262I	probably null	Het
D430041D05Rik	T	A	2: 104,240,521 (GRCm39)		probably benign	Het
Dctd	C	T	8: 48,564,712 (GRCm39)	P5S	probably benign	Het
Det1	T	C	7: 78,492,984 (GRCm39)	N340S	probably benign	Het
Dnah7b	A	G	1: 46,262,232 (GRCm39)	N2032D	probably benign	Het
Dscam	T	A	16: 96,840,116 (GRCm39)	T164S	probably benign	Het
Fbxo32	A	G	15: 58,046,358 (GRCm39)	I284T	possibly damaging	Het
Gimap3	C	A	6: 48,742,094 (GRCm39)	D279Y	possibly damaging	Het
Gm43302	C	T	5: 105,427,974 (GRCm39)	D196N	probably benign	Het
Gpc6	C	A	14: 117,424,217 (GRCm39)	H102N	possibly damaging	Het
Gpr158	A	T	2: 21,581,760 (GRCm39)	D413V	probably damaging	Het
Ifi207	T	C	1: 173,555,382 (GRCm39)	R767G	probably damaging	Het
Kcnip2	T	C	19: 45,800,634 (GRCm39)		probably benign	Het
Kifap3	A	C	1: 163,696,291 (GRCm39)	D640A	probably damaging	Het
Lmbrd2	A	T	15: 9,157,311 (GRCm39)	Q183L	possibly damaging	Het
Malt1	A	G	18: 65,577,911 (GRCm39)	I135V	probably benign	Het
Mfhas1	T	C	8: 36,057,109 (GRCm39)	V528A	probably damaging	Het
Mllt10	T	C	2: 18,167,163 (GRCm39)	S363P	probably damaging	Het
Mrnip	A	G	11: 50,073,323 (GRCm39)	Y44C	probably damaging	Het
Mstn	C	T	1: 53,103,131 (GRCm39)	Q156*	probably null	Het
Mtmr7	T	C	8: 41,008,904 (GRCm39)	D469G	possibly damaging	Het
Muc6	A	G	7: 141,217,018 (GRCm39)	S2552P	possibly damaging	Het
Myo1f	C	A	17: 33,823,662 (GRCm39)	N1063K	probably benign	Het
Or52k2	T	A	7: 102,253,642 (GRCm39)	I27N	probably benign	Het
Or5af1	A	T	11: 58,722,280 (GRCm39)	Y100F	probably benign	Het
Or6z5	G	A	7: 6,477,399 (GRCm39)	V97M	probably benign	Het
Orai2	A	G	5: 136,179,430 (GRCm39)	V201A	possibly damaging	Het
Pcdhga6	A	T	18: 37,841,878 (GRCm39)	T533S	possibly damaging	Het
Pkd1l1	T	A	11: 8,881,552 (GRCm39)	K907N		Het
Plaat5	G	T	19: 7,614,823 (GRCm39)	M228I	probably benign	Het
Ppp1r15a	A	T	7: 45,174,049 (GRCm39)	V253E	probably benign	Het
Ppp1r9b	A	G	11: 94,887,467 (GRCm39)	E493G	probably benign	Het
Prdm1	T	C	10: 44,322,997 (GRCm39)	N151S	probably benign	Het
Prkcd	C	T	14: 30,329,297 (GRCm39)	A163T	probably damaging	Het
Prl7a2	T	A	13: 27,849,994 (GRCm39)	E26V	probably damaging	Het
Ptprm	A	T	17: 66,996,354 (GRCm39)	N1278K	probably damaging	Het
Ptprz1	T	A	6: 23,001,653 (GRCm39)	S1248T	possibly damaging	Het
Scn9a	T	C	2: 66,338,927 (GRCm39)	I1186M	probably damaging	Het
Sv2a	T	C	3: 96,094,409 (GRCm39)	F248S	probably benign	Het
Tas2r116	T	A	6: 132,832,963 (GRCm39)	I188K	probably damaging	Het
Tcf21	T	C	10: 22,693,671 (GRCm39)	T169A	probably benign	Het
Tecrl	C	A	5: 83,432,121 (GRCm39)	C258F	probably damaging	Het
Tet2	T	A	3: 133,193,360 (GRCm39)	E358V	possibly damaging	Het
Thada	A	T	17: 84,759,203 (GRCm39)	S219T	possibly damaging	Het
Tpgs2	T	A	18: 25,301,777 (GRCm39)		probably benign	Het
Ttc6	A	T	12: 57,744,219 (GRCm39)	I1284F	probably damaging	Het
Vmn1r160	T	C	7: 22,571,127 (GRCm39)	V160A	possibly damaging	Het
Vmn1r44	T	C	6: 89,870,671 (GRCm39)	L139P	probably damaging	Het

Other mutations in Emcn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00817:Emcn	APN	3	137,085,638 (GRCm39)	missense	probably benign	0.11
IGL02250:Emcn	APN	3	137,124,747 (GRCm39)	splice site	probably benign
IGL03035:Emcn	APN	3	137,078,612 (GRCm39)	critical splice donor site	probably null
R0101:Emcn	UTSW	3	137,047,001 (GRCm39)	start codon destroyed	possibly damaging	0.51
R0180:Emcn	UTSW	3	137,124,755 (GRCm39)	critical splice acceptor site	probably null
R0329:Emcn	UTSW	3	137,122,575 (GRCm39)	splice site	probably benign
R0348:Emcn	UTSW	3	137,078,608 (GRCm39)	nonsense	probably null
R1475:Emcn	UTSW	3	137,085,668 (GRCm39)	missense	possibly damaging	0.92
R2224:Emcn	UTSW	3	137,109,778 (GRCm39)	missense	possibly damaging	0.93
R2226:Emcn	UTSW	3	137,109,778 (GRCm39)	missense	possibly damaging	0.93
R2227:Emcn	UTSW	3	137,109,778 (GRCm39)	missense	possibly damaging	0.93
R2471:Emcn	UTSW	3	137,109,772 (GRCm39)	missense	probably damaging	1.00
R4057:Emcn	UTSW	3	137,085,660 (GRCm39)	missense	probably damaging	0.98
R4456:Emcn	UTSW	3	137,085,608 (GRCm39)	nonsense	probably null
R4823:Emcn	UTSW	3	137,129,187 (GRCm39)	missense	probably damaging	1.00
R5043:Emcn	UTSW	3	137,097,362 (GRCm39)	missense	possibly damaging	0.95
R5326:Emcn	UTSW	3	137,085,638 (GRCm39)	missense	probably benign	0.11
R5542:Emcn	UTSW	3	137,085,638 (GRCm39)	missense	probably benign	0.11
R6925:Emcn	UTSW	3	137,124,763 (GRCm39)	missense	probably damaging	0.99
R7137:Emcn	UTSW	3	137,109,752 (GRCm39)	missense	probably damaging	0.98
R7148:Emcn	UTSW	3	137,122,855 (GRCm39)	missense	possibly damaging	0.95
R7265:Emcn	UTSW	3	137,124,837 (GRCm39)	missense	probably damaging	0.99
R7265:Emcn	UTSW	3	137,122,839 (GRCm39)	missense	probably damaging	0.97
R8243:Emcn	UTSW	3	137,097,411 (GRCm39)	missense	possibly damaging	0.92
R8436:Emcn	UTSW	3	137,129,228 (GRCm39)	missense	possibly damaging	0.95
R9214:Emcn	UTSW	3	137,047,029 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GGAAAGCCATCTCTCTGAGG -3'
(R):5'- TCTGACAGTTGAAGGTCACAG -3'

Sequencing Primer
(F):5'- AAAGCCATCTCTCTGAGGTTTGG -3'
(R):5'- TTGAAGGTCACAGTCGCAC -3'

Posted On

2021-10-11