Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01697:Mmrn1'

104300

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mmrn1

Ensembl Gene

ENSMUSG00000054641

Gene Name

multimerin 1

Synonyms

4921530G03Rik, Emilin4

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01697

Quality Score

Status

Chromosome

Chromosomal Location

60924976-60989378 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60976493 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 586 (D586G)

Ref Sequence

ENSEMBL: ENSMUSP00000145156 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000129603
AA Change: D586G

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000119609
Gene: ENSMUSG00000054641
AA Change: D586G

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

possibly damaging
Transcript: ENSMUST00000204333
AA Change: D586G

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000145156
Gene: ENSMUSG00000054641
AA Change: D586G

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

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430015G10Rik	T	A	4: 156,119,156 (GRCm38)		probably benign	Het
Arid2	A	C	15: 96,361,572 (GRCm38)		probably null	Het
Cadm1	C	A	9: 47,850,324 (GRCm38)	D435E	probably damaging	Het
Dagla	A	G	19: 10,271,198 (GRCm38)	F33L	probably benign	Het
Edrf1	A	G	7: 133,643,730 (GRCm38)	H199R	probably benign	Het
F5	T	A	1: 164,194,052 (GRCm38)	N1365K	probably benign	Het
Fam205c	T	A	4: 42,874,163 (GRCm38)	M2L	probably benign	Het
Gipc2	T	G	3: 152,137,608 (GRCm38)	I131L	probably benign	Het
Gpc1	C	T	1: 92,858,410 (GRCm38)	S507F	possibly damaging	Het
Grid1	A	G	14: 35,309,257 (GRCm38)	D269G	probably benign	Het
Ighv12-3	A	T	12: 114,366,953 (GRCm38)	M1K	probably null	Het
Kif5b	T	C	18: 6,226,871 (GRCm38)	H129R	possibly damaging	Het
Lipo3	A	T	19: 33,559,565 (GRCm38)	C252S	probably damaging	Het
Mast4	A	C	13: 102,767,893 (GRCm38)	N645K	probably damaging	Het
Megf9	T	A	4: 70,433,472 (GRCm38)	T471S	possibly damaging	Het
Ninl	A	T	2: 150,939,947 (GRCm38)	L1206Q	probably damaging	Het
Olfr1446	T	A	19: 12,890,467 (GRCm38)	T37S	probably benign	Het
Olfr45	T	C	7: 140,691,652 (GRCm38)	V249A	possibly damaging	Het
Olfr765	C	A	10: 129,046,502 (GRCm38)	C187F	probably damaging	Het
Oog2	T	A	4: 144,195,184 (GRCm38)	N221K	possibly damaging	Het
Pik3ap1	G	A	19: 41,324,579 (GRCm38)	A365V	probably damaging	Het
Ppwd1	T	C	13: 104,220,464 (GRCm38)	E181G	probably benign	Het
Scaf11	A	C	15: 96,423,623 (GRCm38)		probably benign	Het
Skint7	T	A	4: 111,980,457 (GRCm38)		probably benign	Het
Sox14	T	C	9: 99,875,663 (GRCm38)	I8V	probably benign	Het
Stim1	A	T	7: 102,425,969 (GRCm38)		probably benign	Het
Ttc37	C	T	13: 76,128,733 (GRCm38)	L479F	probably benign	Het
Ttll3	T	C	6: 113,399,729 (GRCm38)	S357P	probably benign	Het
Vmn1r178	T	A	7: 23,893,689 (GRCm38)	I54N	probably damaging	Het
Zdhhc2	T	C	8: 40,467,419 (GRCm38)		probably benign	Het

Other mutations in Mmrn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00640:Mmrn1	APN	6	60,977,513 (GRCm38)	missense	probably benign
IGL00742:Mmrn1	APN	6	60,958,120 (GRCm38)	missense	probably damaging	1.00
IGL00917:Mmrn1	APN	6	60,975,910 (GRCm38)	nonsense	probably null
IGL01121:Mmrn1	APN	6	60,975,944 (GRCm38)	missense	possibly damaging	0.46
IGL01393:Mmrn1	APN	6	60,960,708 (GRCm38)	splice site	probably benign
IGL01737:Mmrn1	APN	6	60,977,161 (GRCm38)	missense	probably benign
IGL01944:Mmrn1	APN	6	60,971,183 (GRCm38)	critical splice donor site	probably null
IGL01987:Mmrn1	APN	6	60,944,573 (GRCm38)	missense	probably benign	0.31
IGL02005:Mmrn1	APN	6	60,960,744 (GRCm38)	missense	probably damaging	1.00
IGL02190:Mmrn1	APN	6	60,987,193 (GRCm38)	missense	probably benign	0.13
IGL02335:Mmrn1	APN	6	60,977,147 (GRCm38)	missense	possibly damaging	0.79
IGL02421:Mmrn1	APN	6	60,944,822 (GRCm38)	missense	probably benign	0.00
IGL02530:Mmrn1	APN	6	60,958,176 (GRCm38)	missense	possibly damaging	0.73
IGL02709:Mmrn1	APN	6	60,973,046 (GRCm38)	missense	probably damaging	1.00
IGL03139:Mmrn1	APN	6	60,976,340 (GRCm38)	missense	probably damaging	0.99
IGL03228:Mmrn1	APN	6	60,944,892 (GRCm38)	missense	probably benign	0.02
IGL03272:Mmrn1	APN	6	60,988,435 (GRCm38)	missense	probably damaging	1.00
IGL03410:Mmrn1	APN	6	60,975,835 (GRCm38)	missense	probably benign	0.36
H8562:Mmrn1	UTSW	6	60,958,180 (GRCm38)	missense	probably damaging	0.98
K2124:Mmrn1	UTSW	6	60,976,033 (GRCm38)	missense	possibly damaging	0.87
R0145:Mmrn1	UTSW	6	60,973,010 (GRCm38)	missense	probably damaging	1.00
R0164:Mmrn1	UTSW	6	60,975,815 (GRCm38)	splice site	probably benign
R0352:Mmrn1	UTSW	6	60,944,971 (GRCm38)	missense	probably benign	0.03
R0400:Mmrn1	UTSW	6	60,977,115 (GRCm38)	missense	probably benign	0.00
R0538:Mmrn1	UTSW	6	60,976,469 (GRCm38)	missense	probably benign	0.00
R0907:Mmrn1	UTSW	6	60,973,119 (GRCm38)	missense	probably benign	0.09
R1117:Mmrn1	UTSW	6	60,976,325 (GRCm38)	missense	possibly damaging	0.51
R1383:Mmrn1	UTSW	6	60,976,322 (GRCm38)	missense	probably damaging	1.00
R1542:Mmrn1	UTSW	6	60,945,118 (GRCm38)	missense	probably damaging	0.98
R1591:Mmrn1	UTSW	6	60,944,771 (GRCm38)	nonsense	probably null
R1599:Mmrn1	UTSW	6	60,945,037 (GRCm38)	missense	probably benign
R1733:Mmrn1	UTSW	6	60,977,101 (GRCm38)	missense	probably benign	0.00
R2005:Mmrn1	UTSW	6	60,976,084 (GRCm38)	missense	possibly damaging	0.88
R2056:Mmrn1	UTSW	6	60,944,805 (GRCm38)	missense	probably benign	0.00
R2144:Mmrn1	UTSW	6	60,945,075 (GRCm38)	missense	possibly damaging	0.54
R2299:Mmrn1	UTSW	6	60,976,441 (GRCm38)	missense	probably damaging	0.99
R3836:Mmrn1	UTSW	6	60,944,847 (GRCm38)	missense	probably benign
R3837:Mmrn1	UTSW	6	60,944,847 (GRCm38)	missense	probably benign
R4206:Mmrn1	UTSW	6	60,958,180 (GRCm38)	missense	probably damaging	0.98
R4414:Mmrn1	UTSW	6	60,944,586 (GRCm38)	missense	probably damaging	1.00
R4590:Mmrn1	UTSW	6	60,960,813 (GRCm38)	missense	probably damaging	1.00
R4707:Mmrn1	UTSW	6	60,988,473 (GRCm38)	missense	probably benign	0.12
R4820:Mmrn1	UTSW	6	60,973,043 (GRCm38)	missense	probably benign	0.04
R4880:Mmrn1	UTSW	6	60,976,439 (GRCm38)	missense	probably benign	0.15
R5166:Mmrn1	UTSW	6	60,976,490 (GRCm38)	missense	probably benign	0.04
R5324:Mmrn1	UTSW	6	60,976,586 (GRCm38)	missense	probably damaging	1.00
R5887:Mmrn1	UTSW	6	60,987,074 (GRCm38)	missense	probably benign
R5917:Mmrn1	UTSW	6	60,973,150 (GRCm38)	critical splice donor site	probably null
R6108:Mmrn1	UTSW	6	60,975,976 (GRCm38)	missense	possibly damaging	0.83
R6539:Mmrn1	UTSW	6	60,987,184 (GRCm38)	missense	probably benign	0.01
R6996:Mmrn1	UTSW	6	60,977,383 (GRCm38)	missense	probably benign	0.04
R7064:Mmrn1	UTSW	6	60,988,540 (GRCm38)	nonsense	probably null
R7073:Mmrn1	UTSW	6	60,988,427 (GRCm38)	missense	probably damaging	1.00
R7213:Mmrn1	UTSW	6	60,944,543 (GRCm38)	start gained	probably benign
R7256:Mmrn1	UTSW	6	60,976,114 (GRCm38)	missense	probably damaging	0.98
R7324:Mmrn1	UTSW	6	60,944,933 (GRCm38)	nonsense	probably null
R7350:Mmrn1	UTSW	6	60,976,336 (GRCm38)	nonsense	probably null
R7388:Mmrn1	UTSW	6	60,976,252 (GRCm38)	missense	probably benign	0.43
R7652:Mmrn1	UTSW	6	60,977,506 (GRCm38)	missense	probably benign	0.14
R7664:Mmrn1	UTSW	6	60,976,705 (GRCm38)	missense	probably benign	0.44
R7810:Mmrn1	UTSW	6	60,976,325 (GRCm38)	missense	probably benign	0.18
R7832:Mmrn1	UTSW	6	60,987,060 (GRCm38)	splice site	probably null
R7979:Mmrn1	UTSW	6	60,975,977 (GRCm38)	missense	probably damaging	0.96
R8071:Mmrn1	UTSW	6	60,944,524 (GRCm38)	start gained	probably benign
R8130:Mmrn1	UTSW	6	60,960,723 (GRCm38)	missense	probably damaging	1.00
R8277:Mmrn1	UTSW	6	60,977,236 (GRCm38)	missense	probably benign	0.19
R8353:Mmrn1	UTSW	6	60,988,377 (GRCm38)	missense	probably damaging	1.00
R8453:Mmrn1	UTSW	6	60,988,377 (GRCm38)	missense	probably damaging	1.00
R8472:Mmrn1	UTSW	6	60,988,396 (GRCm38)	missense	probably damaging	1.00
R8758:Mmrn1	UTSW	6	60,987,209 (GRCm38)	missense	possibly damaging	0.54
R8803:Mmrn1	UTSW	6	60,988,287 (GRCm38)	missense	probably damaging	1.00
R8879:Mmrn1	UTSW	6	60,976,529 (GRCm38)	missense	probably damaging	0.99
R8907:Mmrn1	UTSW	6	60,976,093 (GRCm38)	missense	probably damaging	1.00
R8983:Mmrn1	UTSW	6	60,976,058 (GRCm38)	missense	probably benign	0.04
R9200:Mmrn1	UTSW	6	60,976,876 (GRCm38)	missense	probably damaging	1.00
R9287:Mmrn1	UTSW	6	60,975,955 (GRCm38)	missense	probably damaging	1.00
R9387:Mmrn1	UTSW	6	60,958,192 (GRCm38)	nonsense	probably null
R9612:Mmrn1	UTSW	6	60,976,424 (GRCm38)	missense	probably damaging	0.96
R9674:Mmrn1	UTSW	6	60,971,088 (GRCm38)	nonsense	probably null
X0026:Mmrn1	UTSW	6	60,976,013 (GRCm38)	missense	probably benign	0.09
Z1176:Mmrn1	UTSW	6	60,945,034 (GRCm38)	missense	probably benign	0.37
Z1177:Mmrn1	UTSW	6	60,987,098 (GRCm38)	missense	possibly damaging	0.83

Posted On

2014-01-21