Mutagenetix > Incidental Mutation

Incidental Mutation 'R8983:Mmrn1'

683819

Institutional Source

Beutler Lab

Gene Symbol

Mmrn1

Ensembl Gene

ENSMUSG00000054641

Gene Name

multimerin 1

Synonyms

4921530G03Rik, Emilin4

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8983 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60924976-60989378 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 60976058 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 441 (T441I)

Ref Sequence

ENSEMBL: ENSMUSP00000119609 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000129603
AA Change: T441I

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000119609
Gene: ENSMUSG00000054641
AA Change: T441I

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 benign
Transcript: ENSMUST00000204333
AA Change: T441I

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000145156
Gene: ENSMUSG00000054641
AA Change: T441I

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: 99.6%
20x: 98.5%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700074P13Rik	A	G	6: 40,921,000	S250P	possibly damaging	Het
4921509C19Rik	A	T	2: 151,471,352	F632I	unknown	Het
4930430A15Rik	A	G	2: 111,200,356	S403P	probably benign	Het
5730522E02Rik	T	C	11: 25,769,069	T26A	unknown	Het
Ablim1	A	T	19: 57,239,212	V7E	probably benign	Het
Adcy5	T	G	16: 35,156,862	L255R	possibly damaging	Het
Ahnak	C	A	19: 9,004,113	N920K	possibly damaging	Het
Arhgef11	A	G	3: 87,733,201	K1251E		Het
Astn1	T	A	1: 158,664,130		probably null	Het
Atxn2	A	G	5: 121,778,000	Y423C	probably damaging	Het
Ccdc180	T	A	4: 45,909,359	V509D	possibly damaging	Het
Ccdc80	T	C	16: 45,104,417	V638A	possibly damaging	Het
Ccr6	T	G	17: 8,256,046	C28G	probably damaging	Het
Cdca7l	A	G	12: 117,865,167		probably benign	Het
Cnot3	T	C	7: 3,651,329	I52T	probably damaging	Het
Cped1	A	T	6: 22,138,687	N555I	probably benign	Het
Cpne6	A	T	14: 55,516,254	I390F	probably damaging	Het
Dlec1	A	G	9: 119,128,351	D836G	probably benign	Het
Dnah8	T	A	17: 30,851,654	V4438D	probably damaging	Het
Dok3	G	T	13: 55,523,722	N345K	probably damaging	Het
Eea1	C	T	10: 96,019,879	Q593*	probably null	Het
Eif3m	T	C	2: 104,999,794	Y351C	possibly damaging	Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
Epn3	T	C	11: 94,496,088	E152G	probably damaging	Het
Faf2	A	G	13: 54,621,913	S25G	probably benign	Het
Fam83b	A	G	9: 76,493,075	S249P	probably damaging	Het
Fgl1	A	T	8: 41,200,459	S132R	probably benign	Het
Frem3	A	G	8: 80,669,246	E1890G	probably damaging	Het
Gm960	T	C	19: 4,645,686	I513V	possibly damaging	Het
Gpc5	T	A	14: 115,092,686	S94T	unknown	Het
Hectd1	A	G	12: 51,744,627	V2584A	probably damaging	Het
Kifc3	G	A	8: 95,106,476	A498V	probably damaging	Het
Klra6	T	C	6: 130,022,610	T132A	probably benign	Het
Lor	T	C	3: 92,081,139	Y280C	unknown	Het
Lpin2	C	T	17: 71,246,967	A931V	unknown	Het
Lpxn	A	G	19: 12,833,158	H322R	probably damaging	Het
Megf9	A	G	4: 70,435,397	S391P	probably benign	Het
Mipep	G	A	14: 60,843,253	V565I	probably benign	Het
Mpp5	G	A	12: 78,837,524	D640N	probably damaging	Het
Mrpl48	T	C	7: 100,574,495	N14S	probably benign	Het
Ncald	A	G	15: 37,397,268	F56S	probably damaging	Het
Olfr1012	T	C	2: 85,753,907		probably benign	Het
Plcd3	A	G	11: 103,071,266	V703A	possibly damaging	Het
Qser1	T	C	2: 104,787,357	I947V	probably benign	Het
Rdx	G	A	9: 52,063,605	A14T	probably damaging	Het
Rnf213	A	G	11: 119,430,349	D1211G		Het
Sbpl	T	C	17: 23,953,279	D222G	unknown	Het
Scn8a	C	A	15: 101,002,149	T703K	possibly damaging	Het
Setbp1	A	G	18: 78,859,244	S403P	probably benign	Het
Sfmbt2	A	G	2: 10,404,456	S71G	probably damaging	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 126,389,036		probably benign	Het
Smco3	C	T	6: 136,831,732	G48D	possibly damaging	Het
Spag9	T	C	11: 94,067,989	S280P	probably benign	Het
Thada	T	C	17: 84,231,087	T1498A	probably benign	Het
Tmprss7	T	C	16: 45,660,900	D641G	probably damaging	Het
Trim43a	A	G	9: 88,582,351	D105G	probably benign	Het
Utp14b	T	A	1: 78,665,286	N300K	probably benign	Het
Vmn2r83	T	G	10: 79,491,526	I656S	probably damaging	Het
Zfp646	A	T	7: 127,881,605	M985L	probably benign	Het
Zfp777	A	T	6: 48,029,224	L412Q	probably damaging	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
H8562:Mmrn1	UTSW	6	60958180	missense	probably damaging	0.98
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
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'- TTCCAAGATGATATGCAGGAGACG -3'
(R):5'- GGCGACATTCTCTGTTCCTG -3'

Sequencing Primer
(F):5'- GACTGCCCAGATCTTCAAGACTG -3'
(R):5'- CTTGTAGAACTGATAACAGCTGTGTG -3'

Posted On

2021-10-11