Mutagenetix > Incidental Mutation

Incidental Mutation 'R7979:Mmrn1'

651075

Institutional Source

Beutler Lab

Gene Symbol

Mmrn1

Ensembl Gene

ENSMUSG00000054641

Gene Name

multimerin 1

Synonyms

Emilin4, 4921530G03Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7979 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60921301-60966362 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60952961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 414 (V414A)

Ref Sequence

ENSEMBL: ENSMUSP00000119609 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000129603] [ENSMUST00000204333]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000129603
AA Change: V414A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119609
Gene: ENSMUSG00000054641
AA Change: V414A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	80	92	N/A	INTRINSIC
Pfam:EMI	193	262	3.3e-12	PFAM
coiled coil region	303	338	N/A	INTRINSIC
coiled coil region	658	688	N/A	INTRINSIC
coiled coil region	808	846	N/A	INTRINSIC
low complexity region	981	992	N/A	INTRINSIC
EGF	1026	1059	1.62e-5	SMART
C1Q	1076	1210	6.74e-49	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000204333
AA Change: V414A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000145156
Gene: ENSMUSG00000054641
AA Change: V414A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	80	92	N/A	INTRINSIC
Pfam:EMI	193	262	7.7e-13	PFAM
coiled coil region	303	338	N/A	INTRINSIC
coiled coil region	658	688	N/A	INTRINSIC
coiled coil region	808	846	N/A	INTRINSIC
low complexity region	981	992	N/A	INTRINSIC
EGF	1025	1058	1.62e-5	SMART
C1Q	1075	1209	6.74e-49	SMART

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Multimerin is a massive, soluble protein found in platelets and in the endothelium of blood vessels. It is comprised of subunits linked by interchain disulfide bonds to form large, variably sized homomultimers. Multimerin is a factor V/Va-binding protein and may function as a carrier protein for platelet factor V. It may also have functions as an extracellular matrix or adhesive protein. Recently, patients with an unusual autosomal-dominant bleeding disorder (factor V Quebec) were found to have a deficiency of platelet multimerin. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	A	T	5: 8,186,804 (GRCm39)		probably null	Het
Ahnak	A	T	19: 8,988,796 (GRCm39)	D3360V	probably damaging	Het
Akap9	T	C	5: 4,100,381 (GRCm39)	L2681P	probably benign	Het
Ankrd52	C	A	10: 128,217,857 (GRCm39)	A279E	probably damaging	Het
Arhgef4	T	C	1: 34,760,978 (GRCm39)	L78P	unknown	Het
Cfap300	T	A	9: 8,027,111 (GRCm39)	E142D	possibly damaging	Het
Chpf	A	T	1: 75,453,904 (GRCm39)	C291*	probably null	Het
Cr1l	T	C	1: 194,800,030 (GRCm39)	T215A	probably damaging	Het
Ctc1	A	T	11: 68,918,209 (GRCm39)	K444*	probably null	Het
Dscaml1	T	C	9: 45,595,029 (GRCm39)	S711P	probably damaging	Het
Elavl4	A	T	4: 110,068,845 (GRCm39)	V176D	probably benign	Het
Faim2	A	G	15: 99,408,515 (GRCm39)	V251A	possibly damaging	Het
Fancg	A	G	4: 43,004,963 (GRCm39)	I410T	probably damaging	Het
Frmd3	G	A	4: 74,071,852 (GRCm39)	V245I	probably damaging	Het
Gls	T	C	1: 52,230,271 (GRCm39)	H480R	probably damaging	Het
Gm30191	A	G	4: 133,977,223 (GRCm39)	D145G	possibly damaging	Het
Grik2	T	C	10: 49,280,438 (GRCm39)	I438V	probably benign	Het
Klhl3	G	T	13: 58,211,611 (GRCm39)	Q197K	probably benign	Het
Krt42	G	C	11: 100,155,865 (GRCm39)	R294G	possibly damaging	Het
Mmp23	G	A	4: 155,736,462 (GRCm39)	T193I	possibly damaging	Het
Mmrn2	C	T	14: 34,118,138 (GRCm39)	Q61*	probably null	Het
Mprip	G	A	11: 59,657,682 (GRCm39)	R852H	probably damaging	Het
Nars2	A	C	7: 96,711,868 (GRCm39)	N461T	probably damaging	Het
Nomo1	A	G	7: 45,690,986 (GRCm39)	N124S	probably null	Het
Or1e17	G	T	11: 73,831,401 (GRCm39)	V110F	probably benign	Het
Or1j17	A	G	2: 36,578,106 (GRCm39)	I31V	probably benign	Het
Peak1	T	A	9: 56,114,676 (GRCm39)	N1422Y	possibly damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pfkm	G	A	15: 98,026,117 (GRCm39)	E571K	probably damaging	Het
Ptpn2	A	T	18: 67,814,641 (GRCm39)	C123S	possibly damaging	Het
Raph1	G	A	1: 60,565,148 (GRCm39)	T113I	probably benign	Het
Rsf1	A	G	7: 97,334,920 (GRCm39)	E1351G		Het
Serinc4	C	T	2: 121,285,793 (GRCm39)	V163I	probably benign	Het
Slc7a2	G	T	8: 41,357,541 (GRCm39)	G270C	probably damaging	Het
Smc2	G	A	4: 52,450,857 (GRCm39)	R225Q	probably damaging	Het
Tas2r140	T	C	6: 40,468,601 (GRCm39)	S144P	probably damaging	Het
Tcl1b4	A	T	12: 105,168,865 (GRCm39)	H43L	probably benign	Het
Tmem156	T	C	5: 65,237,352 (GRCm39)	T103A	possibly damaging	Het
Tns3	A	T	11: 8,442,701 (GRCm39)	M554K	probably benign	Het
Tpp2	A	T	1: 43,979,297 (GRCm39)	I65F	probably benign	Het
Trank1	T	A	9: 111,206,967 (GRCm39)	M1700K	probably benign	Het
Ttc39c	T	A	18: 12,866,022 (GRCm39)	H473Q	probably benign	Het
Vmn2r68	A	C	7: 84,883,625 (GRCm39)		probably null	Het
Wnk1	T	C	6: 120,014,409 (GRCm39)	D62G	probably damaging	Het
Wnk2	A	T	13: 49,248,884 (GRCm39)	M389K	probably damaging	Het
Zfp292	G	A	4: 34,809,198 (GRCm39)	T1287M	probably benign	Het
Zfp451	G	A	1: 33,821,219 (GRCm39)	S211L	probably benign	Het
Zfp710	T	C	7: 79,738,327 (GRCm39)	S626P	unknown	Het
Zfp787	C	T	7: 6,146,094 (GRCm39)	E16K	probably damaging	Het
Zfp788	G	T	7: 41,284,324 (GRCm39)		probably null	Het

Other mutations in Mmrn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00640:Mmrn1	APN	6	60,954,497 (GRCm39)	missense	probably benign
IGL00742:Mmrn1	APN	6	60,935,104 (GRCm39)	missense	probably damaging	1.00
IGL00917:Mmrn1	APN	6	60,952,894 (GRCm39)	nonsense	probably null
IGL01121:Mmrn1	APN	6	60,952,928 (GRCm39)	missense	possibly damaging	0.46
IGL01393:Mmrn1	APN	6	60,937,692 (GRCm39)	splice site	probably benign
IGL01697:Mmrn1	APN	6	60,953,477 (GRCm39)	missense	possibly damaging	0.46
IGL01737:Mmrn1	APN	6	60,954,145 (GRCm39)	missense	probably benign
IGL01944:Mmrn1	APN	6	60,948,167 (GRCm39)	critical splice donor site	probably null
IGL01987:Mmrn1	APN	6	60,921,557 (GRCm39)	missense	probably benign	0.31
IGL02005:Mmrn1	APN	6	60,937,728 (GRCm39)	missense	probably damaging	1.00
IGL02190:Mmrn1	APN	6	60,964,177 (GRCm39)	missense	probably benign	0.13
IGL02335:Mmrn1	APN	6	60,954,131 (GRCm39)	missense	possibly damaging	0.79
IGL02421:Mmrn1	APN	6	60,921,806 (GRCm39)	missense	probably benign	0.00
IGL02530:Mmrn1	APN	6	60,935,160 (GRCm39)	missense	possibly damaging	0.73
IGL02709:Mmrn1	APN	6	60,950,030 (GRCm39)	missense	probably damaging	1.00
IGL03139:Mmrn1	APN	6	60,953,324 (GRCm39)	missense	probably damaging	0.99
IGL03228:Mmrn1	APN	6	60,921,876 (GRCm39)	missense	probably benign	0.02
IGL03272:Mmrn1	APN	6	60,965,419 (GRCm39)	missense	probably damaging	1.00
IGL03410:Mmrn1	APN	6	60,952,819 (GRCm39)	missense	probably benign	0.36
H8562:Mmrn1	UTSW	6	60,935,164 (GRCm39)	missense	probably damaging	0.98
K2124:Mmrn1	UTSW	6	60,953,017 (GRCm39)	missense	possibly damaging	0.87
R0145:Mmrn1	UTSW	6	60,949,994 (GRCm39)	missense	probably damaging	1.00
R0164:Mmrn1	UTSW	6	60,952,799 (GRCm39)	splice site	probably benign
R0352:Mmrn1	UTSW	6	60,921,955 (GRCm39)	missense	probably benign	0.03
R0400:Mmrn1	UTSW	6	60,954,099 (GRCm39)	missense	probably benign	0.00
R0538:Mmrn1	UTSW	6	60,953,453 (GRCm39)	missense	probably benign	0.00
R0907:Mmrn1	UTSW	6	60,950,103 (GRCm39)	missense	probably benign	0.09
R1117:Mmrn1	UTSW	6	60,953,309 (GRCm39)	missense	possibly damaging	0.51
R1383:Mmrn1	UTSW	6	60,953,306 (GRCm39)	missense	probably damaging	1.00
R1542:Mmrn1	UTSW	6	60,922,102 (GRCm39)	missense	probably damaging	0.98
R1591:Mmrn1	UTSW	6	60,921,755 (GRCm39)	nonsense	probably null
R1599:Mmrn1	UTSW	6	60,922,021 (GRCm39)	missense	probably benign
R1733:Mmrn1	UTSW	6	60,954,085 (GRCm39)	missense	probably benign	0.00
R2005:Mmrn1	UTSW	6	60,953,068 (GRCm39)	missense	possibly damaging	0.88
R2056:Mmrn1	UTSW	6	60,921,789 (GRCm39)	missense	probably benign	0.00
R2144:Mmrn1	UTSW	6	60,922,059 (GRCm39)	missense	possibly damaging	0.54
R2299:Mmrn1	UTSW	6	60,953,425 (GRCm39)	missense	probably damaging	0.99
R3836:Mmrn1	UTSW	6	60,921,831 (GRCm39)	missense	probably benign
R3837:Mmrn1	UTSW	6	60,921,831 (GRCm39)	missense	probably benign
R4206:Mmrn1	UTSW	6	60,935,164 (GRCm39)	missense	probably damaging	0.98
R4414:Mmrn1	UTSW	6	60,921,570 (GRCm39)	missense	probably damaging	1.00
R4590:Mmrn1	UTSW	6	60,937,797 (GRCm39)	missense	probably damaging	1.00
R4707:Mmrn1	UTSW	6	60,965,457 (GRCm39)	missense	probably benign	0.12
R4820:Mmrn1	UTSW	6	60,950,027 (GRCm39)	missense	probably benign	0.04
R4880:Mmrn1	UTSW	6	60,953,423 (GRCm39)	missense	probably benign	0.15
R5166:Mmrn1	UTSW	6	60,953,474 (GRCm39)	missense	probably benign	0.04
R5324:Mmrn1	UTSW	6	60,953,570 (GRCm39)	missense	probably damaging	1.00
R5887:Mmrn1	UTSW	6	60,964,058 (GRCm39)	missense	probably benign
R5917:Mmrn1	UTSW	6	60,950,134 (GRCm39)	critical splice donor site	probably null
R6108:Mmrn1	UTSW	6	60,952,960 (GRCm39)	missense	possibly damaging	0.83
R6539:Mmrn1	UTSW	6	60,964,168 (GRCm39)	missense	probably benign	0.01
R6996:Mmrn1	UTSW	6	60,954,367 (GRCm39)	missense	probably benign	0.04
R7064:Mmrn1	UTSW	6	60,965,524 (GRCm39)	nonsense	probably null
R7073:Mmrn1	UTSW	6	60,965,411 (GRCm39)	missense	probably damaging	1.00
R7213:Mmrn1	UTSW	6	60,921,527 (GRCm39)	start gained	probably benign
R7256:Mmrn1	UTSW	6	60,953,098 (GRCm39)	missense	probably damaging	0.98
R7324:Mmrn1	UTSW	6	60,921,917 (GRCm39)	nonsense	probably null
R7350:Mmrn1	UTSW	6	60,953,320 (GRCm39)	nonsense	probably null
R7388:Mmrn1	UTSW	6	60,953,236 (GRCm39)	missense	probably benign	0.43
R7652:Mmrn1	UTSW	6	60,954,490 (GRCm39)	missense	probably benign	0.14
R7664:Mmrn1	UTSW	6	60,953,689 (GRCm39)	missense	probably benign	0.44
R7810:Mmrn1	UTSW	6	60,953,309 (GRCm39)	missense	probably benign	0.18
R7832:Mmrn1	UTSW	6	60,964,044 (GRCm39)	splice site	probably null
R8071:Mmrn1	UTSW	6	60,921,508 (GRCm39)	start gained	probably benign
R8130:Mmrn1	UTSW	6	60,937,707 (GRCm39)	missense	probably damaging	1.00
R8277:Mmrn1	UTSW	6	60,954,220 (GRCm39)	missense	probably benign	0.19
R8353:Mmrn1	UTSW	6	60,965,361 (GRCm39)	missense	probably damaging	1.00
R8453:Mmrn1	UTSW	6	60,965,361 (GRCm39)	missense	probably damaging	1.00
R8472:Mmrn1	UTSW	6	60,965,380 (GRCm39)	missense	probably damaging	1.00
R8758:Mmrn1	UTSW	6	60,964,193 (GRCm39)	missense	possibly damaging	0.54
R8803:Mmrn1	UTSW	6	60,965,271 (GRCm39)	missense	probably damaging	1.00
R8879:Mmrn1	UTSW	6	60,953,513 (GRCm39)	missense	probably damaging	0.99
R8907:Mmrn1	UTSW	6	60,953,077 (GRCm39)	missense	probably damaging	1.00
R8983:Mmrn1	UTSW	6	60,953,042 (GRCm39)	missense	probably benign	0.04
R9200:Mmrn1	UTSW	6	60,953,860 (GRCm39)	missense	probably damaging	1.00
R9287:Mmrn1	UTSW	6	60,952,939 (GRCm39)	missense	probably damaging	1.00
R9387:Mmrn1	UTSW	6	60,935,176 (GRCm39)	nonsense	probably null
R9612:Mmrn1	UTSW	6	60,953,408 (GRCm39)	missense	probably damaging	0.96
R9674:Mmrn1	UTSW	6	60,948,072 (GRCm39)	nonsense	probably null
X0026:Mmrn1	UTSW	6	60,952,997 (GRCm39)	missense	probably benign	0.09
Z1176:Mmrn1	UTSW	6	60,922,018 (GRCm39)	missense	probably benign	0.37
Z1177:Mmrn1	UTSW	6	60,964,082 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- CAGCCTTTGTCACTGCAGTG -3'
(R):5'- CAAATGAGCTTGTTTTGCTTCC -3'

Sequencing Primer
(F):5'- GCAGTGAAAAGCATTTACCTTTTGCC -3'
(R):5'- GCTTCCAGTTCCTTGACAGG -3'

Posted On

2020-09-15