Mutagenetix > Incidental Mutation

Incidental Mutation 'R6996:Mmrn1'

544197

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 #

R6996 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60924976-60989378 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60977383 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 883 (T883A)

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: T883A

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

SMART Domains

Protein: ENSMUSP00000119609
Gene: ENSMUSG00000054641
AA Change: T883A

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: T883A

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

SMART Domains

Protein: ENSMUSP00000145156
Gene: ENSMUSG00000054641
AA Change: T883A

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: 99.7%
20x: 99.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	G	A	8: 24,806,501	S310L	probably damaging	Het
Adamts16	C	T	13: 70,798,038		probably null	Het
Arrb1	C	A	7: 99,591,362	D194E	probably benign	Het
Atp1a3	T	C	7: 24,997,626	D217G	probably damaging	Het
Bcar3	A	G	3: 122,508,384	I123V	possibly damaging	Het
Bdp1	G	A	13: 100,043,813	L1833F	probably damaging	Het
Cdc14a	T	C	3: 116,328,706	Y155C	probably damaging	Het
Cdo1	C	A	18: 46,720,313	R126M	possibly damaging	Het
Cfap99	G	T	5: 34,327,260	R627L	probably damaging	Het
Efr3a	T	A	15: 65,848,181	L369*	probably null	Het
Erich6	A	C	3: 58,636,095	F185V	probably damaging	Het
Fam186a	T	C	15: 99,955,493	D122G	unknown	Het
Fank1	A	G	7: 133,876,898	I230M	possibly damaging	Het
Flg2	A	T	3: 93,202,670	E668D	unknown	Het
Flg2	A	C	3: 93,202,949	R761S	unknown	Het
Gabrr1	T	C	4: 33,158,157	L260P	probably damaging	Het
Gfm2	G	A	13: 97,149,360	R119K	probably damaging	Het
Gm14226	A	G	2: 155,024,437	T105A	probably benign	Het
Gm14496	A	G	2: 181,996,204	N357S	probably damaging	Het
Gm5916	G	A	9: 36,128,639	L18F	probably benign	Het
Gm884	A	T	11: 103,618,757	L795*	probably null	Het
Golm1	A	T	13: 59,642,244	N247K	probably benign	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Greb1	C	T	12: 16,723,354	A240T	probably benign	Het
Gtf3c6	T	C	10: 40,249,778	M148V	probably benign	Het
Guca1a	T	C	17: 47,395,177	S126G	probably benign	Het
Hacl1	A	T	14: 31,615,423	I393N	possibly damaging	Het
Hddc3	A	G	7: 80,343,750	D68G	possibly damaging	Het
Hsfy2	T	C	1: 56,636,410	T323A	possibly damaging	Het
Kcng2	T	C	18: 80,323,143		probably benign	Het
Kdm2a	G	T	19: 4,345,641	P321T	probably benign	Het
Krt31	A	G	11: 100,047,732	V345A	probably benign	Het
Mettl1	T	C	10: 127,045,018	S193P	probably benign	Het
Mme	G	A	3: 63,346,102	D456N	possibly damaging	Het
Mphosph10	C	G	7: 64,388,921	E293Q	probably benign	Het
Muc16	C	A	9: 18,645,897	K3033N	unknown	Het
Myo16	C	T	8: 10,569,496	T1349M	probably damaging	Het
Myo5c	T	C	9: 75,250,464	I233T	probably benign	Het
Olfr1356	C	A	10: 78,847,517	V133L	probably benign	Het
Olfr1465	A	T	19: 13,313,672	S204R	probably benign	Het
Olfr190	A	G	16: 59,074,192	M296T	probably benign	Het
Olfr475-ps1	A	G	2: 88,623,845	T181A	unknown	Het
Olfr622	T	G	7: 103,639,858	N94T	probably benign	Het
Olfr655	A	T	7: 104,596,811	F123L	probably benign	Het
Olfr791	T	A	10: 129,526,863	V212E	probably damaging	Het
Oxct2b	A	G	4: 123,117,687	I467V	probably benign	Het
Parp1	A	T	1: 180,587,371	N425Y	possibly damaging	Het
Pcdhgc3	T	A	18: 37,806,603	V19D	possibly damaging	Het
Pfkl	T	A	10: 77,997,589	I260F	probably damaging	Het
Pkd1l1	C	T	11: 8,849,046	G1789R	probably damaging	Het
Pla1a	G	A	16: 38,397,468	A386V	probably benign	Het
Pml	A	G	9: 58,234,886	L221P	probably damaging	Het
Rcn2	C	T	9: 56,057,561	Q268*	probably null	Het
Reps1	T	A	10: 18,093,855	D235E	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,911		probably benign	Het
Sap30bp	A	G	11: 115,933,488		probably benign	Het
Scn1a	A	T	2: 66,287,731	S1433T	probably damaging	Het
Sde2	T	C	1: 180,851,189	V6A	probably benign	Het
Sdk1	C	A	5: 142,212,014	R2141S	probably benign	Het
Setd2	T	C	9: 110,550,572	S1152P	probably damaging	Het
Slc26a2	C	T	18: 61,201,854	V176I	probably damaging	Het
Snx7	A	G	3: 117,846,632	I76T	possibly damaging	Het
Specc1l	C	A	10: 75,246,279	A520D	probably benign	Het
Spop	A	G	11: 95,471,310	T56A	possibly damaging	Het
Syne2	T	A	12: 76,028,012	D4576E	probably damaging	Het
Tas2r134	A	C	2: 51,627,589	M27L	probably benign	Het
Tecta	A	C	9: 42,366,786	I1142S	probably benign	Het
Timm44	T	C	8: 4,266,611	D311G	possibly damaging	Het
Tmem123	C	G	9: 7,791,070	T124R	possibly damaging	Het
Tmem184b	A	T	15: 79,362,759	L370Q	probably benign	Het
Trim25	T	A	11: 88,999,503	N5K	probably benign	Het
Vmn2r93	A	G	17: 18,304,641	Y187C	probably damaging	Het
Vpreb1	A	G	16: 16,868,814	Y71H	probably damaging	Het
Vpreb2	T	C	16: 17,980,577	S5P	probably benign	Het
Xpo7	A	T	14: 70,669,448	C939S	probably benign	Het
Zfp78	C	A	7: 6,378,765	S271R	probably benign	Het
Zic5	A	T	14: 122,464,668	M217K	probably benign	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
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'- TGAAACCACTTCCCAGGTG -3'
(R):5'- TTTCTGAGAACTCTGACTGCCTG -3'

Sequencing Primer
(F):5'- TTCCCAGGTGAACAAATGTCAG -3'
(R):5'- TGAAAGCTCACGGACAGT -3'

Posted On

2019-05-13