Mutagenetix > Incidental Mutation

Incidental Mutation 'H8562:Mmrn1'

44334

Institutional Source

Beutler Lab

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 #

H8562 (G3) of strain 604

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60924976-60989378 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 60958180 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 220 (G220D)

Ref Sequence

ENSEMBL: ENSMUSP00000145156 (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: G220D

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119609
Gene: ENSMUSG00000054641
AA Change: G220D

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: G220D

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145156
Gene: ENSMUSG00000054641
AA Change: G220D

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

96% (109/114)

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700081O15Rik	A	G	19: 7,422,921	K251E	probably benign	Het
2810021J22Rik	T	C	11: 58,880,891	C400R	probably damaging	Het
4930519F16Rik	A	T	X: 103,255,857		noncoding transcript	Het
5430402E10Rik	G	T	X: 77,922,734	H117Q	probably damaging	Het
Abca15	T	C	7: 120,374,854		probably benign	Het
Abca8a	A	G	11: 110,043,009	I1190T	probably benign	Het
Acmsd	T	C	1: 127,749,058	Y107H	probably benign	Het
Adcy5	A	G	16: 35,267,181	I471V	probably damaging	Het
Aff2	G	A	X: 69,848,926	A939T	unknown	Het
Ampd2	C	A	3: 108,081,111	A11S	probably benign	Het
Aoah	T	A	13: 20,816,524	C43S	probably damaging	Het
Apobec4	T	C	1: 152,757,174	S318P	probably damaging	Het
Arid2	C	T	15: 96,369,546	P636S	possibly damaging	Het
Atp13a3	A	T	16: 30,359,725	C164*	probably null	Het
Avl9	G	A	6: 56,757,310	A625T	probably damaging	Het
Bco1	G	T	8: 117,105,647		probably benign	Het
Brd3	C	T	2: 27,450,533	G555S	possibly damaging	Het
Brd4	A	T	17: 32,229,403		probably benign	Het
Btbd7	A	G	12: 102,788,302	V735A	probably benign	Het
C2cd2	G	T	16: 97,879,640	Q325K	possibly damaging	Het
Carmil1	A	G	13: 24,064,647	V485A	probably benign	Het
Casz1	T	C	4: 148,933,451	L113P	probably damaging	Het
Ccdc3	T	C	2: 5,138,205	L91S	probably damaging	Het
Cd180	A	G	13: 102,705,418	K324R	probably benign	Het
Cd200r4	A	G	16: 44,833,373	T132A	possibly damaging	Het
Cops7a	A	G	6: 124,962,453		probably benign	Het
Cyp2c29	A	T	19: 39,309,662	N217I	probably damaging	Het
Dapk1	C	A	13: 60,761,312	H1246Q	probably damaging	Het
Dmbt1	T	A	7: 131,112,076	C1450*	probably null	Het
Dnah10	T	A	5: 124,829,529	M4151K	probably damaging	Het
Dnaic1	C	A	4: 41,629,833	F452L	possibly damaging	Het
Dync1h1	T	C	12: 110,616,807	M446T	probably benign	Het
Dytn	A	C	1: 63,674,912	S143A	possibly damaging	Het
E130308A19Rik	T	A	4: 59,691,033	L289Q	possibly damaging	Het
Efemp2	G	T	19: 5,480,649	V250L	probably benign	Het
Elmo1	T	C	13: 20,280,863	S201P	probably damaging	Het
Fam208b	A	T	13: 3,577,000	S983R	probably damaging	Het
Fam222b	T	A	11: 78,154,578	C194S	probably damaging	Het
Fam91a1	G	A	15: 58,427,121		probably null	Het
Fcf1	T	A	12: 84,980,612		probably benign	Het
Fnip1	T	A	11: 54,480,297	F134L	probably damaging	Het
Fyn	T	C	10: 39,511,954	S69P	probably benign	Het
Gabbr1	T	C	17: 37,071,949	Y845H	probably damaging	Het
Gfra2	C	T	14: 70,978,378	T169M	possibly damaging	Het
Gm13083	T	A	4: 143,615,350		probably benign	Het
Gm1966	A	G	7: 106,603,149	F296S	probably damaging	Het
Gm5435	T	C	12: 82,495,675		noncoding transcript	Het
Gm7251	A	G	13: 49,805,672	Y94H	probably damaging	Het
Heatr1	T	A	13: 12,408,713	N530K	probably benign	Het
Hist1h2bn	T	C	13: 21,754,478	V119A	probably benign	Het
Icam5	A	T	9: 21,035,146	E355V	probably benign	Het
Ighv3-6	A	G	12: 114,288,538		probably benign	Het
Intu	T	C	3: 40,692,673	S659P	probably damaging	Het
Ivns1abp	T	C	1: 151,354,695	V198A	probably damaging	Het
Katnb1	T	A	8: 95,095,510		probably benign	Het
Kcna5	T	C	6: 126,533,423	S581G	probably damaging	Het
Kif23	A	G	9: 61,924,065	V741A	probably benign	Het
Lbr	A	T	1: 181,820,668		probably benign	Het
Loxhd1	A	C	18: 77,341,931	T508P	possibly damaging	Het
Lrrk2	T	A	15: 91,673,358	N26K	probably benign	Het
Ly96	A	T	1: 16,691,694	K41N	probably damaging	Het
Lypd1	C	T	1: 125,910,537		probably benign	Het
Macf1	A	G	4: 123,466,040	V1817A	probably benign	Het
Mknk2	A	G	10: 80,668,934		probably benign	Het
Mmp19	A	T	10: 128,795,601	I117L	probably benign	Het
Mtrr	T	C	13: 68,564,377	H630R	probably damaging	Het
Nfat5	T	C	8: 107,339,382		probably benign	Het
Ngef	C	A	1: 87,487,807	K288N	possibly damaging	Het
Nkain4	T	C	2: 180,943,145	E71G	probably benign	Het
Odc1	T	C	12: 17,548,037	Y122H	probably benign	Het
Olfr384	T	C	11: 73,603,447	I289T	probably damaging	Het
Olfr715	C	A	7: 107,129,241	A51S	probably benign	Het
Olfr919	C	A	9: 38,697,910	G156V	probably damaging	Het
Osbpl3	A	T	6: 50,347,466	N190K	probably benign	Het
Osgepl1	T	C	1: 53,315,039	V54A	probably damaging	Het
Otogl	T	C	10: 107,910,956	Y19C	probably benign	Het
Pop1	T	C	15: 34,530,212	S919P	probably benign	Het
Prl8a9	A	G	13: 27,562,601		probably benign	Het
Prr14l	A	T	5: 32,793,728	V1907D	probably damaging	Het
Ptprn	T	C	1: 75,254,620	T547A	possibly damaging	Het
Rdh14	G	T	12: 10,394,709	V187F	probably damaging	Het
Rev1	A	G	1: 38,056,767	L853P	probably damaging	Het
Robo4	T	C	9: 37,405,810		probably benign	Het
Ryr2	A	G	13: 11,717,141		probably benign	Het
Sec16a	G	A	2: 26,441,505	P166L	probably benign	Het
Slc6a19	G	A	13: 73,700,124		probably benign	Het
Slco4c1	T	A	1: 96,842,485	T285S	probably benign	Het
Speg	G	T	1: 75,415,597	A1633S	probably benign	Het
Srpk1	T	A	17: 28,602,733	T236S	probably benign	Het
Stxbp5	T	C	10: 9,769,443	N262S	probably benign	Het
Suco	T	C	1: 161,852,851	E317G	probably damaging	Het
Syk	A	G	13: 52,640,621	N441D	probably damaging	Het
Syt17	T	C	7: 118,408,069	K334R	probably benign	Het
Sytl5	A	T	X: 9,960,096	H436L	probably benign	Het
Thada	A	G	17: 84,446,544	L333P	probably damaging	Het
Thap12	T	C	7: 98,715,107	Y161H	probably damaging	Het
Thbs2	C	T	17: 14,671,453	V941I	probably benign	Het
Tktl1	A	T	X: 74,181,864	E72V	probably damaging	Het
Tm4sf5	T	A	11: 70,505,512		probably benign	Het
Urb1	T	A	16: 90,769,469	M1477L	probably benign	Het
Vcp	T	A	4: 42,982,596	I699F	probably damaging	Het
Vmn1r232	T	C	17: 20,913,394	T315A	probably benign	Het
Vmn2r100	T	A	17: 19,521,490	W155R	possibly damaging	Het
Vmn2r19	T	C	6: 123,315,902	I301T	possibly damaging	Het
Wwc2	A	G	8: 47,920,666	V55A	possibly damaging	Het
Xirp2	A	G	2: 67,515,457	T2681A	probably benign	Het
Zfp39	C	A	11: 58,900,686	L58F	probably damaging	Het
Zfp612	T	C	8: 110,090,038	F587L	probably damaging	Het
Zfp810	T	C	9: 22,279,091	R174G	probably benign	Het

Other mutations in Mmrn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00640:Mmrn1	APN	6	60977513	missense	probably benign
IGL00742:Mmrn1	APN	6	60958120	missense	probably damaging	1.00
IGL00917:Mmrn1	APN	6	60975910	nonsense	probably null
IGL01121:Mmrn1	APN	6	60975944	missense	possibly damaging	0.46
IGL01393:Mmrn1	APN	6	60960708	splice site	probably benign
IGL01697:Mmrn1	APN	6	60976493	missense	possibly damaging	0.46
IGL01737:Mmrn1	APN	6	60977161	missense	probably benign
IGL01944:Mmrn1	APN	6	60971183	critical splice donor site	probably null
IGL01987:Mmrn1	APN	6	60944573	missense	probably benign	0.31
IGL02005:Mmrn1	APN	6	60960744	missense	probably damaging	1.00
IGL02190:Mmrn1	APN	6	60987193	missense	probably benign	0.13
IGL02335:Mmrn1	APN	6	60977147	missense	possibly damaging	0.79
IGL02421:Mmrn1	APN	6	60944822	missense	probably benign	0.00
IGL02530:Mmrn1	APN	6	60958176	missense	possibly damaging	0.73
IGL02709:Mmrn1	APN	6	60973046	missense	probably damaging	1.00
IGL03139:Mmrn1	APN	6	60976340	missense	probably damaging	0.99
IGL03228:Mmrn1	APN	6	60944892	missense	probably benign	0.02
IGL03272:Mmrn1	APN	6	60988435	missense	probably damaging	1.00
IGL03410:Mmrn1	APN	6	60975835	missense	probably benign	0.36
K2124:Mmrn1	UTSW	6	60976033	missense	possibly damaging	0.87
R0145:Mmrn1	UTSW	6	60973010	missense	probably damaging	1.00
R0164:Mmrn1	UTSW	6	60975815	splice site	probably benign
R0352:Mmrn1	UTSW	6	60944971	missense	probably benign	0.03
R0400:Mmrn1	UTSW	6	60977115	missense	probably benign	0.00
R0538:Mmrn1	UTSW	6	60976469	missense	probably benign	0.00
R0907:Mmrn1	UTSW	6	60973119	missense	probably benign	0.09
R1117:Mmrn1	UTSW	6	60976325	missense	possibly damaging	0.51
R1383:Mmrn1	UTSW	6	60976322	missense	probably damaging	1.00
R1542:Mmrn1	UTSW	6	60945118	missense	probably damaging	0.98
R1591:Mmrn1	UTSW	6	60944771	nonsense	probably null
R1599:Mmrn1	UTSW	6	60945037	missense	probably benign
R1733:Mmrn1	UTSW	6	60977101	missense	probably benign	0.00
R2005:Mmrn1	UTSW	6	60976084	missense	possibly damaging	0.88
R2056:Mmrn1	UTSW	6	60944805	missense	probably benign	0.00
R2144:Mmrn1	UTSW	6	60945075	missense	possibly damaging	0.54
R2299:Mmrn1	UTSW	6	60976441	missense	probably damaging	0.99
R3836:Mmrn1	UTSW	6	60944847	missense	probably benign
R3837:Mmrn1	UTSW	6	60944847	missense	probably benign
R4206:Mmrn1	UTSW	6	60958180	missense	probably damaging	0.98
R4414:Mmrn1	UTSW	6	60944586	missense	probably damaging	1.00
R4590:Mmrn1	UTSW	6	60960813	missense	probably damaging	1.00
R4707:Mmrn1	UTSW	6	60988473	missense	probably benign	0.12
R4820:Mmrn1	UTSW	6	60973043	missense	probably benign	0.04
R4880:Mmrn1	UTSW	6	60976439	missense	probably benign	0.15
R5166:Mmrn1	UTSW	6	60976490	missense	probably benign	0.04
R5324:Mmrn1	UTSW	6	60976586	missense	probably damaging	1.00
R5887:Mmrn1	UTSW	6	60987074	missense	probably benign
R5917:Mmrn1	UTSW	6	60973150	critical splice donor site	probably null
R6108:Mmrn1	UTSW	6	60975976	missense	possibly damaging	0.83
R6539:Mmrn1	UTSW	6	60987184	missense	probably benign	0.01
R6996:Mmrn1	UTSW	6	60977383	missense	probably benign	0.04
R7064:Mmrn1	UTSW	6	60988540	nonsense	probably null
R7073:Mmrn1	UTSW	6	60988427	missense	probably damaging	1.00
R7213:Mmrn1	UTSW	6	60944543	start gained	probably benign
R7256:Mmrn1	UTSW	6	60976114	missense	probably damaging	0.98
R7324:Mmrn1	UTSW	6	60944933	nonsense	probably null
R7350:Mmrn1	UTSW	6	60976336	nonsense	probably null
R7388:Mmrn1	UTSW	6	60976252	missense	probably benign	0.43
R7652:Mmrn1	UTSW	6	60977506	missense	probably benign	0.14
R7664:Mmrn1	UTSW	6	60976705	missense	probably benign	0.44
R7810:Mmrn1	UTSW	6	60976325	missense	probably benign	0.18
R7832:Mmrn1	UTSW	6	60987060	splice site	probably null
R7979:Mmrn1	UTSW	6	60975977	missense	probably damaging	0.96
R8071:Mmrn1	UTSW	6	60944524	start gained	probably benign
R8130:Mmrn1	UTSW	6	60960723	missense	probably damaging	1.00
R8277:Mmrn1	UTSW	6	60977236	missense	probably benign	0.19
R8353:Mmrn1	UTSW	6	60988377	missense	probably damaging	1.00
R8453:Mmrn1	UTSW	6	60988377	missense	probably damaging	1.00
R8472:Mmrn1	UTSW	6	60988396	missense	probably damaging	1.00
R8758:Mmrn1	UTSW	6	60987209	missense	possibly damaging	0.54
R8803:Mmrn1	UTSW	6	60988287	missense	probably damaging	1.00
R8879:Mmrn1	UTSW	6	60976529	missense	probably damaging	0.99
R8907:Mmrn1	UTSW	6	60976093	missense	probably damaging	1.00
R8983:Mmrn1	UTSW	6	60976058	missense	probably benign	0.04
R9200:Mmrn1	UTSW	6	60976876	missense	probably damaging	1.00
R9287:Mmrn1	UTSW	6	60975955	missense	probably damaging	1.00
R9387:Mmrn1	UTSW	6	60958192	nonsense	probably null
R9612:Mmrn1	UTSW	6	60976424	missense	probably damaging	0.96
R9674:Mmrn1	UTSW	6	60971088	nonsense	probably null
X0026:Mmrn1	UTSW	6	60976013	missense	probably benign	0.09
Z1176:Mmrn1	UTSW	6	60945034	missense	probably benign	0.37
Z1177:Mmrn1	UTSW	6	60987098	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- GTGTCAGAGACAGAGCGATGCAG -3'
(R):5'- GTTCAGTAACAGAAAGGTAACATGCCCT -3'

Sequencing Primer
(F):5'- CTTAAAGTCTCTTTGGGTACAGC -3'
(R):5'- CGAGACTACTAGACTTCAAGCTAAG -3'

Posted On

2013-06-11