Mutagenetix > Incidental Mutation

Incidental Mutation 'R5166:Mmrn1'

397296

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 #

R5166 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60921301-60966362 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60953474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 585 (H585L)

Ref Sequence

ENSEMBL: ENSMUSP00000145156 (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: H585L

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000119609
Gene: ENSMUSG00000054641
AA Change: H585L

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: H585L

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000145156
Gene: ENSMUSG00000054641
AA Change: H585L

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	T	C	5: 121,738,083 (GRCm39)	T435A	probably benign	Het
Adcy3	T	A	12: 4,184,438 (GRCm39)	I38N	probably damaging	Het
Aff1	A	G	5: 103,902,523 (GRCm39)		probably benign	Het
Asxl1	A	G	2: 153,243,041 (GRCm39)	E1197G	probably damaging	Het
Brinp3	T	A	1: 146,777,105 (GRCm39)	N517K	probably damaging	Het
Carmil1	C	T	13: 24,338,966 (GRCm39)		probably null	Het
Ccdc185	G	A	1: 182,576,564 (GRCm39)	Q42*	probably null	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Cdh10	A	G	15: 19,013,446 (GRCm39)	E682G	probably damaging	Het
Col6a3	C	A	1: 90,738,330 (GRCm39)	R456L	probably damaging	Het
Egf	C	T	3: 129,529,489 (GRCm39)	R307H	probably benign	Het
Flt4	T	C	11: 49,524,084 (GRCm39)		probably null	Het
Fstl5	A	C	3: 76,536,267 (GRCm39)	K26Q	possibly damaging	Het
Gk5	G	T	9: 96,056,821 (GRCm39)	A413S	probably damaging	Het
Glcci1	T	A	6: 8,537,854 (GRCm39)	S157R	probably benign	Het
Gzmc	G	A	14: 56,471,433 (GRCm39)	A36V	probably damaging	Het
Hexb	T	C	13: 97,318,512 (GRCm39)	N283S	probably benign	Het
Hydin	A	G	8: 111,249,774 (GRCm39)	E2239G	possibly damaging	Het
Igkv10-95	A	T	6: 68,657,544 (GRCm39)	Y20F	probably benign	Het
Il17re	A	G	6: 113,439,923 (GRCm39)	T181A	probably benign	Het
Kcnh6	G	A	11: 105,911,145 (GRCm39)	A514T	possibly damaging	Het
Kcnk10	G	A	12: 98,401,254 (GRCm39)	R460W	probably damaging	Het
Krtap5-2	A	T	7: 141,728,721 (GRCm39)	S320T	unknown	Het
Larp1b	G	T	3: 40,918,487 (GRCm39)	E24*	probably null	Het
Mettl22	A	G	16: 8,296,115 (GRCm39)	T135A	probably benign	Het
Mlh1	A	G	9: 111,070,581 (GRCm39)	V378A	probably benign	Het
Myh14	A	G	7: 44,278,279 (GRCm39)	F1024L	probably damaging	Het
Nbea	A	T	3: 55,926,874 (GRCm39)	H776Q	probably damaging	Het
Nod2	A	G	8: 89,390,875 (GRCm39)	D372G	possibly damaging	Het
Nptn	C	T	9: 58,526,263 (GRCm39)	R137*	probably null	Het
Or9k2	T	C	10: 129,998,430 (GRCm39)	Y255C	possibly damaging	Het
Pm20d2	C	T	4: 33,181,803 (GRCm39)	V267I	probably benign	Het
Rassf10	A	G	7: 112,553,627 (GRCm39)	D76G	probably benign	Het
Rbbp5	A	G	1: 132,418,303 (GRCm39)	T41A	possibly damaging	Het
Rttn	T	C	18: 89,031,218 (GRCm39)	V643A	possibly damaging	Het
Sbno2	C	A	10: 79,902,762 (GRCm39)	E421*	probably null	Het
Slc17a3	T	C	13: 24,026,525 (GRCm39)		probably null	Het
Slc1a6	T	A	10: 78,632,103 (GRCm39)		probably null	Het
Slco2b1	A	G	7: 99,338,220 (GRCm39)	S106P	possibly damaging	Het
Spef1	T	C	2: 131,016,511 (GRCm39)	N28S	probably damaging	Het
Srebf2	C	A	15: 82,069,603 (GRCm39)	T675N	probably damaging	Het
Srp68	C	A	11: 116,156,300 (GRCm39)	E147D	probably damaging	Het
Tbcd	T	A	11: 121,500,216 (GRCm39)	L1114H	possibly damaging	Het
Tex15	T	C	8: 34,066,420 (GRCm39)	V1950A	probably benign	Het
Tnfsf9	T	A	17: 57,413,263 (GRCm39)	F148Y	possibly damaging	Het
Traf6	A	G	2: 101,520,402 (GRCm39)	D150G	probably benign	Het
Ttn	A	G	2: 76,693,717 (GRCm39)	Y262H	possibly damaging	Het
Unc93b1	A	G	19: 3,994,027 (GRCm39)	Y386C	probably damaging	Het
Vmn1r226	A	T	17: 20,908,125 (GRCm39)	E119V	probably benign	Het
Wrn	A	T	8: 33,842,100 (GRCm39)		probably null	Het
Zfp398	A	G	6: 47,842,838 (GRCm39)	I165V	probably benign	Het
Zfp850	A	T	7: 27,689,781 (GRCm39)	C142*	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
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
R7979:Mmrn1	UTSW	6	60,952,961 (GRCm39)	missense	probably damaging	0.96
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'- GGAACAGAGAATGTCGCCAC -3'
(R):5'- TGTTGAAGCGACGACCTCTG -3'

Sequencing Primer
(F):5'- ATGTCGCCACTGAGGAATC -3'
(R):5'- ACGACCTCTGCTCCAGC -3'

Posted On

2016-07-06