Mutagenetix > Incidental Mutation

Incidental Mutation 'R1591:Mmrn1'

175484

Institutional Source

Beutler Lab

Gene Symbol

Mmrn1

Ensembl Gene

ENSMUSG00000054641

Gene Name

multimerin 1

Synonyms

4921530G03Rik, Emilin4

MMRRC Submission

039628-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1591 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60924976-60989378 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 60944771 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 71 (R71*)

Ref Sequence

ENSEMBL: ENSMUSP00000145156 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000129603
AA Change: R71*

SMART Domains

Protein: ENSMUSP00000119609
Gene: ENSMUSG00000054641
AA Change: R71*

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

noncoding transcript
Transcript: ENSMUST00000145763

Predicted Effect

probably null
Transcript: ENSMUST00000204333
AA Change: R71*

SMART Domains

Protein: ENSMUSP00000145156
Gene: ENSMUSG00000054641
AA Change: R71*

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

0.9711

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

100% (80/80)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas1	G	T	5: 100,809,639	Q201K	probably benign	Het
Acacb	A	T	5: 114,203,423	I829F	possibly damaging	Het
Acvr1b	G	T	15: 101,194,024	V62L	probably benign	Het
Adam6b	A	T	12: 113,489,832	I90F	probably benign	Het
Adgrf1	T	C	17: 43,310,981	L703P	probably damaging	Het
Arf3	T	C	15: 98,742,788		probably benign	Het
Asns	T	C	6: 7,678,007	D357G	probably damaging	Het
Atr	T	C	9: 95,945,385	M2461T	probably damaging	Het
B3galt4	G	A	17: 33,950,839	R142C	probably damaging	Het
Bod1l	T	C	5: 41,819,220	I1584V	probably benign	Het
Bub3	T	C	7: 131,561,608		probably null	Het
Camkk2	A	G	5: 122,757,558		probably null	Het
Cand1	G	T	10: 119,211,869	T572K	possibly damaging	Het
Caprin2	A	T	6: 148,873,108	S235R	possibly damaging	Het
Cdh24	T	C	14: 54,636,342	T452A	probably benign	Het
Cdh4	T	C	2: 179,886,864		probably null	Het
Cfap61	A	G	2: 146,145,458	R1060G	probably benign	Het
Chd9	A	G	8: 90,983,538	D314G	probably damaging	Het
Csmd1	T	A	8: 15,900,710	I3500F	probably damaging	Het
Dnah1	G	T	14: 31,272,332	Q2858K	probably benign	Het
Dnah6	C	T	6: 73,076,600	E2884K	probably benign	Het
Ecm1	G	A	3: 95,735,963	R342C	probably damaging	Het
Exosc10	T	A	4: 148,568,383	I485N	probably benign	Het
Fap	T	C	2: 62,553,857	K2E	probably damaging	Het
Fgfr1	G	A	8: 25,572,720	G671D	probably damaging	Het
Fzr1	C	T	10: 81,370,367	R162Q	possibly damaging	Het
Gm17727	T	C	9: 35,776,656	D96G	probably damaging	Het
Grap2	A	T	15: 80,648,448	Y272F	probably damaging	Het
Il11ra1	T	A	4: 41,766,200	W246R	probably damaging	Het
Kcna3	A	T	3: 107,037,029	I203F	probably damaging	Het
Kcng1	T	C	2: 168,268,710	E178G	possibly damaging	Het
Kif19a	A	C	11: 114,789,231	H798P	probably benign	Het
Kif21b	T	C	1: 136,149,317	L359P	probably damaging	Het
Krt6a	A	T	15: 101,692,357		probably null	Het
Lman1l	C	T	9: 57,615,802	V125I	probably benign	Het
Lrp1	C	T	10: 127,605,606	S216N	probably benign	Het
Lrp3	A	G	7: 35,202,365	V676A	probably benign	Het
Lrrc63	T	A	14: 75,125,892	K266N	possibly damaging	Het
Mccc1	C	T	3: 35,989,857	V246M	probably damaging	Het
Mdn1	T	C	4: 32,700,092	V1395A	possibly damaging	Het
Mrps2	C	T	2: 28,469,488	A119V	probably benign	Het
Ogdh	T	C	11: 6,349,384	F750S	probably damaging	Het
Olfr147	A	G	9: 38,402,936	T18A	probably damaging	Het
Olfr356	C	A	2: 36,937,978	N286K	probably damaging	Het
Olfr484	T	A	7: 108,124,364	I300F	possibly damaging	Het
Olfr612	T	G	7: 103,539,067	T56P	probably benign	Het
Olfr901	A	T	9: 38,430,411	N43I	probably damaging	Het
Osbpl11	A	C	16: 33,209,983	I194L	probably benign	Het
Pacsin2	T	C	15: 83,385,051	E14G	probably damaging	Het
Pcdh7	A	G	5: 57,720,422	T440A	probably damaging	Het
Pcdhb17	T	C	18: 37,485,825	S223P	probably damaging	Het
Pik3c2g	G	A	6: 139,748,178	R109K	probably benign	Het
Ppp2ca	T	C	11: 52,099,089	I14T	possibly damaging	Het
Rdh12	A	T	12: 79,211,504	T102S	probably damaging	Het
Rsf1	T	A	7: 97,639,313	C132*	probably null	Het
Rufy1	G	A	11: 50,394,928	L621F	probably damaging	Het
Ruvbl2	C	T	7: 45,424,711	R253H	possibly damaging	Het
Sdf2	A	G	11: 78,254,993	E172G	probably damaging	Het
Skint5	C	T	4: 113,999,454		probably null	Het
Slc25a27	A	G	17: 43,653,424	I185T	probably benign	Het
Slc41a3	A	C	6: 90,633,695	K180Q	probably benign	Het
Slc7a14	A	C	3: 31,237,449	F227V	probably damaging	Het
Smg1	T	C	7: 118,156,919		probably benign	Het
St6galnac1	A	T	11: 116,765,863	D483E	probably damaging	Het
Tes	A	G	6: 17,097,442	K183R	probably damaging	Het
Tgfbr1	G	T	4: 47,403,471	D290Y	probably damaging	Het
Tifab	T	A	13: 56,176,351	Y93F	probably benign	Het
Tmem131l	A	G	3: 83,940,889		probably null	Het
Tnfrsf21	T	A	17: 43,085,374	S516R	probably benign	Het
Ttn	T	C	2: 76,776,045	Y18140C	probably damaging	Het
Unc13b	T	A	4: 43,244,747	S3692T	probably damaging	Het
Vwa8	C	T	14: 78,908,230	R116C	probably damaging	Het
Zfp113	T	C	5: 138,151,197		probably benign	Het
Zfp26	T	C	9: 20,437,625	T548A	probably benign	Het
Zfp870	C	T	17: 32,884,016	G114D	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
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'- AGGCTGGAAGAACTTCGTCTCTCG -3'
(R):5'- AGCAAGCATGACAGTTCCTGCTCC -3'

Sequencing Primer
(F):5'- TTACTGCCATGCTGGGACTAAAG -3'
(R):5'- AGTTCCTGCTCCGGTGC -3'

Posted On

2014-04-24