Mutagenetix > Incidental Mutation

Incidental Mutation 'R5420:Mbl1'

428012

Institutional Source

Beutler Lab

Gene Symbol

Mbl1

Ensembl Gene

ENSMUSG00000037780

Gene Name

mannose-binding lectin (protein A) 1

Synonyms

MBP-A, MBL-A

MMRRC Submission

042988-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5420 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40873415-40881558 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 40879153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 108 (S108L)

Ref Sequence

ENSEMBL: ENSMUSP00000153147 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047095] [ENSMUST00000225792]

AlphaFold

P39039

Predicted Effect

probably benign
Transcript: ENSMUST00000047095

SMART Domains

Protein: ENSMUSP00000048765
Gene: ENSMUSG00000037780

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Collagen	35	91	2.8e-10	PFAM
CLECT	105	236	2.22e-17	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225792
AA Change: S108L

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

97% (66/68)

MGI Phenotype

PHENOTYPE: Homozygous inactivation does not result in overt abnormalities. However mutant mice have shown increased survival in a mouse model of acute septic peritonitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	TGCGCAGC	T	19: 4,915,372 (GRCm39)		probably null	Het
Adamts1	A	T	16: 85,596,497 (GRCm39)	C117*	probably null	Het
Adgrg6	A	T	10: 14,302,730 (GRCm39)	Y894*	probably null	Het
Alas1	G	T	9: 106,111,358 (GRCm39)	L603I	probably benign	Het
Arhgap21	G	T	2: 20,885,897 (GRCm39)	R427S	probably damaging	Het
Arhgef25	A	T	10: 127,023,143 (GRCm39)	V88D	probably benign	Het
Bdp1	T	C	13: 100,202,551 (GRCm39)	Q691R	possibly damaging	Het
Bpifa6	T	A	2: 153,831,250 (GRCm39)	I272N	probably damaging	Het
Cacybp	T	C	1: 160,035,914 (GRCm39)		probably benign	Het
Capn3	T	C	2: 120,325,777 (GRCm39)		probably benign	Het
Ccdc47	C	T	11: 106,101,176 (GRCm39)	R162Q	probably benign	Het
Cideb	A	C	14: 55,995,748 (GRCm39)	M1R	probably null	Het
Clec16a	G	A	16: 10,549,543 (GRCm39)	C872Y	probably damaging	Het
Crebbp	C	T	16: 3,925,322 (GRCm39)	R760H	probably damaging	Het
Cyp2c23	A	C	19: 44,004,103 (GRCm39)		probably null	Het
Cyp3a13	T	G	5: 137,897,243 (GRCm39)	D357A	probably damaging	Het
Dip2b	C	T	15: 100,103,054 (GRCm39)		probably benign	Het
Ecm2	A	T	13: 49,681,210 (GRCm39)	R448S	possibly damaging	Het
Edil3	T	C	13: 89,279,891 (GRCm39)	Y190H	probably damaging	Het
Eps8l1	T	G	7: 4,473,160 (GRCm39)		probably null	Het
Eps8l3	A	T	3: 107,791,301 (GRCm39)	K280*	probably null	Het
Fam184a	A	G	10: 53,509,753 (GRCm39)	F1137L	probably damaging	Het
Fmn2	A	T	1: 174,526,344 (GRCm39)	R1388*	probably null	Het
Glt8d2	T	C	10: 82,488,516 (GRCm39)	K318R	probably benign	Het
Herc2	A	T	7: 55,853,578 (GRCm39)	K3690I	probably damaging	Het
Ifi206	T	A	1: 173,308,599 (GRCm39)	I466F	possibly damaging	Het
Jade2	T	C	11: 51,709,434 (GRCm39)	K525R	probably benign	Het
Kmt2a	A	T	9: 44,759,633 (GRCm39)	F772I	probably damaging	Het
Lipi	A	G	16: 75,352,757 (GRCm39)	V360A	possibly damaging	Het
Mmp1b	T	C	9: 7,384,897 (GRCm39)	I251V	possibly damaging	Het
Mrpl23	A	G	7: 142,089,874 (GRCm39)	T25A	probably damaging	Het
Mto1	T	A	9: 78,360,109 (GRCm39)	M199K	probably benign	Het
Nes	A	T	3: 87,884,309 (GRCm39)	N812I	probably damaging	Het
Nfkbie	T	A	17: 45,871,132 (GRCm39)	D261E	probably benign	Het
Or7e173	T	C	9: 19,938,355 (GRCm39)	Y293C	probably damaging	Het
Pakap	G	A	4: 57,856,062 (GRCm39)	V505I	probably benign	Het
Pakap	T	A	4: 57,856,434 (GRCm39)	Y588N	probably damaging	Het
Papola	A	G	12: 105,772,754 (GRCm39)	I114V	possibly damaging	Het
Pappa	T	G	4: 65,254,017 (GRCm39)		probably null	Het
Pcdh7	T	A	5: 57,877,529 (GRCm39)	D361E	probably damaging	Het
Pick1	A	G	15: 79,133,040 (GRCm39)	T367A	probably benign	Het
Plbd2	A	G	5: 120,632,547 (GRCm39)	Y152H	probably damaging	Het
Ppfia2	A	T	10: 106,671,562 (GRCm39)	E424D	possibly damaging	Het
Rab7b	C	T	1: 131,626,164 (GRCm39)	T64I	probably damaging	Het
Rarb	T	A	14: 16,434,249 (GRCm38)	I310F	possibly damaging	Het
Rdh16f2	C	T	10: 127,712,943 (GRCm39)	P314S	possibly damaging	Het
Rpain	A	T	11: 70,868,516 (GRCm39)		probably null	Het
Rufy3	T	C	5: 88,788,518 (GRCm39)	*488Q	probably null	Het
Sash1	G	A	10: 8,621,950 (GRCm39)	T398I	probably damaging	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Scrn1	T	A	6: 54,489,048 (GRCm39)	I358F	probably benign	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Thbs1	G	T	2: 117,943,636 (GRCm39)	D85Y	possibly damaging	Het
Thoc2l	T	A	5: 104,666,225 (GRCm39)	I249N	probably damaging	Het
Trp53	T	C	11: 69,479,146 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vmn1r223	A	G	13: 23,433,675 (GRCm39)	R90G	probably benign	Het
Zfp521	A	T	18: 13,977,144 (GRCm39)	Y1090N	probably damaging	Het
Zfp677	T	C	17: 21,618,175 (GRCm39)	C411R	probably damaging	Het

Other mutations in Mbl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01910:Mbl1	APN	14	40,875,703 (GRCm39)	critical splice donor site	probably null
IGL02108:Mbl1	APN	14	40,875,608 (GRCm39)	missense	possibly damaging	0.73
IGL02171:Mbl1	APN	14	40,876,455 (GRCm39)	splice site	probably benign
IGL03167:Mbl1	APN	14	40,880,543 (GRCm39)	missense	probably benign	0.00
R0110:Mbl1	UTSW	14	40,880,706 (GRCm39)	missense	probably damaging	1.00
R0450:Mbl1	UTSW	14	40,880,706 (GRCm39)	missense	probably damaging	1.00
R0510:Mbl1	UTSW	14	40,880,706 (GRCm39)	missense	probably damaging	1.00
R0519:Mbl1	UTSW	14	40,880,522 (GRCm39)	missense	probably damaging	0.99
R2138:Mbl1	UTSW	14	40,875,648 (GRCm39)	missense	possibly damaging	0.73
R3034:Mbl1	UTSW	14	40,880,790 (GRCm39)	missense	probably damaging	1.00
R3035:Mbl1	UTSW	14	40,880,790 (GRCm39)	missense	probably damaging	1.00
R3036:Mbl1	UTSW	14	40,880,790 (GRCm39)	missense	probably damaging	1.00
R4723:Mbl1	UTSW	14	40,876,515 (GRCm39)	missense	possibly damaging	0.51
R5044:Mbl1	UTSW	14	40,880,681 (GRCm39)	missense	possibly damaging	0.95
R5347:Mbl1	UTSW	14	40,880,786 (GRCm39)	missense	probably damaging	1.00
R6199:Mbl1	UTSW	14	40,875,572 (GRCm39)	missense	unknown
R6700:Mbl1	UTSW	14	40,880,511 (GRCm39)	missense	probably damaging	1.00
R7193:Mbl1	UTSW	14	40,880,669 (GRCm39)	missense	probably damaging	1.00
R8817:Mbl1	UTSW	14	40,875,555 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGTGCACTTGTGATGGGTATAC -3'
(R):5'- GGCGAGGAGATTGAATATTACATC -3'

Sequencing Primer
(F):5'- AGACAAGGTCTCTCATTGGC -3'
(R):5'- CATCTGAAGAAAGAGCTATGCCTGC -3'

Posted On

2016-09-01