Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01393:Mmrn1'

79324

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01393

Quality Score

Status

Chromosome

Chromosomal Location

60921301-60966362 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 60937692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000119609
Gene: ENSMUSG00000054641

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

SMART Domains

Protein: ENSMUSP00000145156
Gene: ENSMUSG00000054641

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	G	A	14: 35,818,379 (GRCm39)	V126I	possibly damaging	Het
A630073D07Rik	G	T	6: 132,603,577 (GRCm39)	Q60K	unknown	Het
Alpk2	A	G	18: 65,440,779 (GRCm39)	S205P	possibly damaging	Het
Ang4	T	A	14: 52,001,670 (GRCm39)	I93L	probably benign	Het
Arpin	A	G	7: 79,581,588 (GRCm39)	V44A	possibly damaging	Het
Atxn3	A	T	12: 101,899,306 (GRCm39)	C263*	probably null	Het
Cd209f	T	C	8: 4,153,154 (GRCm39)	N260S	probably damaging	Het
Cdh20	A	G	1: 104,861,969 (GRCm39)	R50G	probably benign	Het
Cracd	T	C	5: 77,006,818 (GRCm39)	S1060P	unknown	Het
Csmd3	C	T	15: 48,320,995 (GRCm39)	V272I	possibly damaging	Het
Dst	A	T	1: 34,206,706 (GRCm39)	Y1136F	possibly damaging	Het
Fam20c	A	G	5: 138,793,026 (GRCm39)	Y420C	probably damaging	Het
Fancd2	T	A	6: 113,554,321 (GRCm39)		probably benign	Het
Fat2	T	C	11: 55,160,135 (GRCm39)	D3326G	probably benign	Het
Filip1l	A	G	16: 57,392,586 (GRCm39)	N820S	probably damaging	Het
Gm26566	G	A	4: 88,640,581 (GRCm39)		probably benign	Het
Gm4792	A	G	10: 94,134,304 (GRCm39)	L22P	unknown	Het
Gpat2	A	G	2: 127,274,571 (GRCm39)	E386G	probably damaging	Het
Grm3	T	C	5: 9,639,856 (GRCm39)	D63G	probably benign	Het
Hdc	A	G	2: 126,436,581 (GRCm39)	V430A	probably benign	Het
Hnf4a	T	C	2: 163,393,492 (GRCm39)		probably benign	Het
Il2ra	A	G	2: 11,687,865 (GRCm39)	D215G	probably damaging	Het
Kctd3	T	C	1: 188,732,487 (GRCm39)	I74V	probably benign	Het
Kctd5	A	T	17: 24,278,292 (GRCm39)		probably null	Het
Lrsam1	A	T	2: 32,845,185 (GRCm39)		probably benign	Het
Mblac1	A	G	5: 138,193,036 (GRCm39)	N126S	possibly damaging	Het
Mpp3	A	T	11: 101,916,304 (GRCm39)	L16Q	probably damaging	Het
Mrgprb1	C	A	7: 48,097,754 (GRCm39)	A53S	possibly damaging	Het
Nbea	C	A	3: 55,912,729 (GRCm39)	M1019I	probably benign	Het
Nlrp5	A	G	7: 23,103,599 (GRCm39)	K22R	probably null	Het
Or1j4	G	A	2: 36,740,553 (GRCm39)	R165Q	probably benign	Het
Or2ag18	C	T	7: 106,405,642 (GRCm39)	G9E	probably benign	Het
Or4k48	A	G	2: 111,475,601 (GRCm39)	V247A	probably damaging	Het
Pard6b	T	A	2: 167,929,298 (GRCm39)	S35T	probably benign	Het
Peli1	T	C	11: 21,097,400 (GRCm39)	V215A	probably benign	Het
Pkp4	A	T	2: 59,178,269 (GRCm39)	D1003V	probably damaging	Het
Pot1a	G	A	6: 25,744,630 (GRCm39)	R625*	probably null	Het
Ppp1r16a	T	C	15: 76,578,744 (GRCm39)	S483P	probably benign	Het
Prpf8	C	A	11: 75,385,121 (GRCm39)	A794D	possibly damaging	Het
Prrg3	T	C	X: 71,011,123 (GRCm39)	V210A	probably benign	Het
Rev1	A	G	1: 38,131,144 (GRCm39)	V168A	probably damaging	Het
Sez6l	G	T	5: 112,586,261 (GRCm39)		probably benign	Het
Spag17	A	G	3: 99,934,926 (GRCm39)	T711A	possibly damaging	Het
Spice1	A	G	16: 44,186,993 (GRCm39)	I163M	probably benign	Het
Tex13c1	C	T	X: 42,680,233 (GRCm39)	A66V	probably damaging	Het
Tmem132d	A	T	5: 127,861,702 (GRCm39)	S806R	probably benign	Het
Tnc	A	G	4: 63,932,291 (GRCm39)		probably benign	Het
Tpbg	T	A	9: 85,726,145 (GRCm39)	V38E	unknown	Het
Unc13c	T	A	9: 73,447,552 (GRCm39)	I1883F	probably benign	Het
Vmn2r61	A	C	7: 41,916,258 (GRCm39)	Q290H	probably benign	Het
Vps39	A	G	2: 120,180,719 (GRCm39)		probably benign	Het
Zfp369	T	C	13: 65,442,288 (GRCm39)	V294A	possibly damaging	Het
Zfp821	T	A	8: 110,436,110 (GRCm39)		probably benign	Het
Zfp941	C	T	7: 140,391,841 (GRCm39)	G506E	probably damaging	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
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
R5166:Mmrn1	UTSW	6	60,953,474 (GRCm39)	missense	probably benign	0.04
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

Posted On

2013-11-05