Mutagenetix > Incidental Mutation

Incidental Mutation 'H8562:Mmrn1'

44334

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 #

H8562 (G3) of strain 604

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60921301-60966362 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 60935164 bp (GRCm39)

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
2810021J22Rik	T	C	11: 58,771,717 (GRCm39)	C400R	probably damaging	Het
4930519F16Rik	A	T	X: 102,299,463 (GRCm39)		noncoding transcript	Het
5430402E10Rik	G	T	X: 76,966,340 (GRCm39)	H117Q	probably damaging	Het
Abca15	T	C	7: 119,974,077 (GRCm39)		probably benign	Het
Abca8a	A	G	11: 109,933,835 (GRCm39)	I1190T	probably benign	Het
Acmsd	T	C	1: 127,676,795 (GRCm39)	Y107H	probably benign	Het
Adcy5	A	G	16: 35,087,551 (GRCm39)	I471V	probably damaging	Het
Aff2	G	A	X: 68,892,532 (GRCm39)	A939T	unknown	Het
Ampd2	C	A	3: 107,988,427 (GRCm39)	A11S	probably benign	Het
Aoah	T	A	13: 21,000,694 (GRCm39)	C43S	probably damaging	Het
Apobec4	T	C	1: 152,632,925 (GRCm39)	S318P	probably damaging	Het
Arid2	C	T	15: 96,267,427 (GRCm39)	P636S	possibly damaging	Het
Atp13a3	A	T	16: 30,178,543 (GRCm39)	C164*	probably null	Het
Avl9	G	A	6: 56,734,295 (GRCm39)	A625T	probably damaging	Het
Bco1	G	T	8: 117,832,386 (GRCm39)		probably benign	Het
Brd3	C	T	2: 27,340,545 (GRCm39)	G555S	possibly damaging	Het
Brd4	A	T	17: 32,448,377 (GRCm39)		probably benign	Het
Btbd7	A	G	12: 102,754,561 (GRCm39)	V735A	probably benign	Het
C2cd2	G	T	16: 97,680,840 (GRCm39)	Q325K	possibly damaging	Het
Carmil1	A	G	13: 24,248,630 (GRCm39)	V485A	probably benign	Het
Casz1	T	C	4: 149,017,908 (GRCm39)	L113P	probably damaging	Het
Ccdc3	T	C	2: 5,143,016 (GRCm39)	L91S	probably damaging	Het
Cd180	A	G	13: 102,841,926 (GRCm39)	K324R	probably benign	Het
Cd200r4	A	G	16: 44,653,736 (GRCm39)	T132A	possibly damaging	Het
Cops7a	A	G	6: 124,939,416 (GRCm39)		probably benign	Het
Cyp2c29	A	T	19: 39,298,106 (GRCm39)	N217I	probably damaging	Het
Dapk1	C	A	13: 60,909,126 (GRCm39)	H1246Q	probably damaging	Het
Dmbt1	T	A	7: 130,713,805 (GRCm39)	C1450*	probably null	Het
Dnah10	T	A	5: 124,906,593 (GRCm39)	M4151K	probably damaging	Het
Dnai1	C	A	4: 41,629,833 (GRCm39)	F452L	possibly damaging	Het
Dync1h1	T	C	12: 110,583,241 (GRCm39)	M446T	probably benign	Het
Dytn	A	C	1: 63,714,071 (GRCm39)	S143A	possibly damaging	Het
E130308A19Rik	T	A	4: 59,691,033 (GRCm39)	L289Q	possibly damaging	Het
Efemp2	G	T	19: 5,530,677 (GRCm39)	V250L	probably benign	Het
Elmo1	T	C	13: 20,465,033 (GRCm39)	S201P	probably damaging	Het
Fam222b	T	A	11: 78,045,404 (GRCm39)	C194S	probably damaging	Het
Fam91a1	G	A	15: 58,298,970 (GRCm39)		probably null	Het
Fcf1	T	A	12: 85,027,386 (GRCm39)		probably benign	Het
Fnip1	T	A	11: 54,371,123 (GRCm39)	F134L	probably damaging	Het
Fyn	T	C	10: 39,387,950 (GRCm39)	S69P	probably benign	Het
Gabbr1	T	C	17: 37,382,841 (GRCm39)	Y845H	probably damaging	Het
Gfra2	C	T	14: 71,215,818 (GRCm39)	T169M	possibly damaging	Het
Gm5435	T	C	12: 82,542,449 (GRCm39)		noncoding transcript	Het
Gm7251	A	G	13: 49,959,148 (GRCm39)	Y94H	probably damaging	Het
Gvin3	A	G	7: 106,202,356 (GRCm39)	F296S	probably damaging	Het
H2bc15	T	C	13: 21,938,648 (GRCm39)	V119A	probably benign	Het
Heatr1	T	A	13: 12,423,594 (GRCm39)	N530K	probably benign	Het
Icam5	A	T	9: 20,946,442 (GRCm39)	E355V	probably benign	Het
Ighv3-6	A	G	12: 114,252,158 (GRCm39)		probably benign	Het
Intu	T	C	3: 40,647,103 (GRCm39)	S659P	probably damaging	Het
Ivns1abp	T	C	1: 151,230,446 (GRCm39)	V198A	probably damaging	Het
Katnb1	T	A	8: 95,822,138 (GRCm39)		probably benign	Het
Kcna5	T	C	6: 126,510,386 (GRCm39)	S581G	probably damaging	Het
Kif23	A	G	9: 61,831,347 (GRCm39)	V741A	probably benign	Het
Lbr	A	T	1: 181,648,233 (GRCm39)		probably benign	Het
Loxhd1	A	C	18: 77,429,627 (GRCm39)	T508P	possibly damaging	Het
Lrrk2	T	A	15: 91,557,561 (GRCm39)	N26K	probably benign	Het
Ly96	A	T	1: 16,761,918 (GRCm39)	K41N	probably damaging	Het
Lypd1	C	T	1: 125,838,274 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,359,833 (GRCm39)	V1817A	probably benign	Het
Mknk2	A	G	10: 80,504,768 (GRCm39)		probably benign	Het
Mmp19	A	T	10: 128,631,470 (GRCm39)	I117L	probably benign	Het
Mtrr	T	C	13: 68,712,496 (GRCm39)	H630R	probably damaging	Het
Nfat5	T	C	8: 108,066,014 (GRCm39)		probably benign	Het
Ngef	C	A	1: 87,415,529 (GRCm39)	K288N	possibly damaging	Het
Nkain4	T	C	2: 180,584,938 (GRCm39)	E71G	probably benign	Het
Odc1	T	C	12: 17,598,038 (GRCm39)	Y122H	probably benign	Het
Or1e25	T	C	11: 73,494,273 (GRCm39)	I289T	probably damaging	Het
Or2d2	C	A	7: 106,728,448 (GRCm39)	A51S	probably benign	Het
Or8g51	C	A	9: 38,609,206 (GRCm39)	G156V	probably damaging	Het
Osbpl3	A	T	6: 50,324,446 (GRCm39)	N190K	probably benign	Het
Osgepl1	T	C	1: 53,354,198 (GRCm39)	V54A	probably damaging	Het
Otogl	T	C	10: 107,746,817 (GRCm39)	Y19C	probably benign	Het
Pop1	T	C	15: 34,530,358 (GRCm39)	S919P	probably benign	Het
Pramel21	T	A	4: 143,341,920 (GRCm39)		probably benign	Het
Prl8a9	A	G	13: 27,746,584 (GRCm39)		probably benign	Het
Prr14l	A	T	5: 32,951,072 (GRCm39)	V1907D	probably damaging	Het
Ptprn	T	C	1: 75,231,264 (GRCm39)	T547A	possibly damaging	Het
Rdh14	G	T	12: 10,444,709 (GRCm39)	V187F	probably damaging	Het
Rev1	A	G	1: 38,095,848 (GRCm39)	L853P	probably damaging	Het
Robo4	T	C	9: 37,317,106 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,732,027 (GRCm39)		probably benign	Het
Sec16a	G	A	2: 26,331,517 (GRCm39)	P166L	probably benign	Het
Slc6a19	G	A	13: 73,848,243 (GRCm39)		probably benign	Het
Slco4c1	T	A	1: 96,770,210 (GRCm39)	T285S	probably benign	Het
Speg	G	T	1: 75,392,241 (GRCm39)	A1633S	probably benign	Het
Srpk1	T	A	17: 28,821,707 (GRCm39)	T236S	probably benign	Het
Stxbp5	T	C	10: 9,645,187 (GRCm39)	N262S	probably benign	Het
Suco	T	C	1: 161,680,420 (GRCm39)	E317G	probably damaging	Het
Syk	A	G	13: 52,794,657 (GRCm39)	N441D	probably damaging	Het
Syt17	T	C	7: 118,007,292 (GRCm39)	K334R	probably benign	Het
Sytl5	A	T	X: 9,826,335 (GRCm39)	H436L	probably benign	Het
Tasor2	A	T	13: 3,627,000 (GRCm39)	S983R	probably damaging	Het
Thada	A	G	17: 84,753,972 (GRCm39)	L333P	probably damaging	Het
Thap12	T	C	7: 98,364,314 (GRCm39)	Y161H	probably damaging	Het
Thbs2	C	T	17: 14,891,715 (GRCm39)	V941I	probably benign	Het
Tktl1	A	T	X: 73,225,470 (GRCm39)	E72V	probably damaging	Het
Tm4sf5	T	A	11: 70,396,338 (GRCm39)		probably benign	Het
Urb1	T	A	16: 90,566,357 (GRCm39)	M1477L	probably benign	Het
Vcp	T	A	4: 42,982,596 (GRCm39)	I699F	probably damaging	Het
Vmn1r232	T	C	17: 21,133,656 (GRCm39)	T315A	probably benign	Het
Vmn2r100	T	A	17: 19,741,752 (GRCm39)	W155R	possibly damaging	Het
Vmn2r19	T	C	6: 123,292,861 (GRCm39)	I301T	possibly damaging	Het
Wwc2	A	G	8: 48,373,701 (GRCm39)	V55A	possibly damaging	Het
Xirp2	A	G	2: 67,345,801 (GRCm39)	T2681A	probably benign	Het
Zfp39	C	A	11: 58,791,512 (GRCm39)	L58F	probably damaging	Het
Zfp612	T	C	8: 110,816,670 (GRCm39)	F587L	probably damaging	Het
Zfp810	T	C	9: 22,190,387 (GRCm39)	R174G	probably benign	Het
Zfta	A	G	19: 7,400,286 (GRCm39)	K251E	probably benign	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
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

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