Mutagenetix > Incidental Mutation

Incidental Mutation 'R6700:Mbl1'

528236

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

044818-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6700 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40873415-40881558 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40880511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 133 (N133S)

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

probably damaging
Transcript: ENSMUST00000225792
AA Change: N133S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

Validation Efficiency

100% (62/62)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	C	9: 55,881,140 (GRCm39)	E504G	unknown	Het
Aak1	G	A	6: 86,941,185 (GRCm39)	E660K	unknown	Het
Abcc9	A	G	6: 142,633,013 (GRCm39)	I243T	possibly damaging	Het
Baiap3	A	G	17: 25,463,000 (GRCm39)	S1013P	probably damaging	Het
Bdp1	A	T	13: 100,162,036 (GRCm39)	D2295E	probably benign	Het
Blm	A	G	7: 80,113,598 (GRCm39)	V1233A	possibly damaging	Het
Brsk1	G	T	7: 4,695,700 (GRCm39)	V62F	probably damaging	Het
Cacna2d1	A	G	5: 16,570,458 (GRCm39)	E1011G	probably damaging	Het
Cdh18	A	G	15: 23,474,191 (GRCm39)	Y687C	probably benign	Het
Cfap221	T	C	1: 119,883,421 (GRCm39)	E250G	possibly damaging	Het
Col5a3	C	T	9: 20,690,329 (GRCm39)	G1162R	probably damaging	Het
Cps1	G	T	1: 67,268,682 (GRCm39)		probably null	Het
Cyp4v3	A	G	8: 45,760,130 (GRCm39)	V34A	probably damaging	Het
Dnah9	C	T	11: 65,846,192 (GRCm39)	V2949M	probably damaging	Het
Dst	A	C	1: 34,295,404 (GRCm39)	Q3454P	probably damaging	Het
Filip1l	T	C	16: 57,391,611 (GRCm39)	L495P	possibly damaging	Het
Flnb	C	A	14: 7,892,189 (GRCm38)	H619Q	probably damaging	Het
Fst	G	C	13: 114,595,043 (GRCm39)	A27G	probably benign	Het
Ggnbp2	C	A	11: 84,730,931 (GRCm39)	R364L	probably damaging	Het
Gins1	C	T	2: 150,758,148 (GRCm39)	A78V	probably damaging	Het
Gm19410	T	A	8: 36,274,664 (GRCm39)	L1495H	possibly damaging	Het
Golgb1	C	T	16: 36,695,946 (GRCm39)		probably benign	Het
Lin7a	A	G	10: 107,216,167 (GRCm39)		probably null	Het
Lrp6	A	T	6: 134,456,523 (GRCm39)	C914S	probably damaging	Het
Lrrc8e	G	A	8: 4,286,034 (GRCm39)	G753D	probably damaging	Het
Mapk4	A	G	18: 74,063,882 (GRCm39)	Y447H	probably damaging	Het
Mrps30	A	T	13: 118,517,134 (GRCm39)	S362T	probably damaging	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Nbea	T	C	3: 55,989,869 (GRCm39)	N329S	possibly damaging	Het
Or13p10	A	T	4: 118,523,609 (GRCm39)	K298N	probably benign	Het
Or51k2	G	A	7: 103,596,531 (GRCm39)	V253M	probably damaging	Het
Or5b120	A	T	19: 13,480,177 (GRCm39)	I157F	probably damaging	Het
Or6k14	G	A	1: 173,927,405 (GRCm39)	C127Y	probably damaging	Het
Pik3c3	A	G	18: 30,449,954 (GRCm39)	E589G	probably benign	Het
Plb1	A	T	5: 32,490,808 (GRCm39)	D1035V	probably damaging	Het
Plekhg1	G	T	10: 3,907,373 (GRCm39)	M763I	probably benign	Het
Poc5	A	G	13: 96,531,003 (GRCm39)	N67S	probably benign	Het
Psmd13	T	A	7: 140,470,522 (GRCm39)	W255R	probably damaging	Het
Rbm27	A	G	18: 42,459,004 (GRCm39)	Y735C	probably damaging	Het
Rhpn2	A	T	7: 35,075,594 (GRCm39)	N257I	possibly damaging	Het
Rilpl2	C	T	5: 124,607,843 (GRCm39)	E126K	probably damaging	Het
Rp1	G	A	1: 4,420,119 (GRCm39)	T331M	probably damaging	Het
Sh3pxd2a	A	G	19: 47,353,146 (GRCm39)	V105A	possibly damaging	Het
Slc9a9	T	C	9: 94,818,364 (GRCm39)	S253P	possibly damaging	Het
St8sia3	C	T	18: 64,398,452 (GRCm39)		probably benign	Het
Strbp	T	C	2: 37,493,975 (GRCm39)	D366G	probably null	Het
Tbx5	A	G	5: 120,009,462 (GRCm39)	T324A	probably benign	Het
Tex15	T	A	8: 34,064,917 (GRCm39)	I1449N	possibly damaging	Het
Tmtc3	C	T	10: 100,307,339 (GRCm39)	V222I	probably benign	Het
Top3b	T	C	16: 16,710,533 (GRCm39)	S788P	possibly damaging	Het
Tsc22d4	A	G	5: 137,756,785 (GRCm39)	D71G	probably benign	Het
Tubgcp4	T	A	2: 121,020,329 (GRCm39)	V434E	probably benign	Het
Ufsp1	A	G	5: 137,293,158 (GRCm39)	Y36C	possibly damaging	Het
Unc79	T	A	12: 103,091,962 (GRCm39)	H1956Q	possibly damaging	Het
Usp34	A	T	11: 23,389,011 (GRCm39)	N2217I	probably damaging	Het
Vmn2r112	A	T	17: 22,822,462 (GRCm39)	D380V	possibly damaging	Het
Vmn2r13	A	G	5: 109,322,938 (GRCm39)	I117T	probably benign	Het
Vmn2r53	A	G	7: 12,315,633 (GRCm39)	Y729H	probably damaging	Het
Wnt3a	A	T	11: 59,140,587 (GRCm39)	L310M	probably damaging	Het
Zc3h7a	T	C	16: 10,976,831 (GRCm39)	Q155R	possibly 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
R5420:Mbl1	UTSW	14	40,879,153 (GRCm39)	missense	possibly damaging	0.46
R6199:Mbl1	UTSW	14	40,875,572 (GRCm39)	missense	unknown
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'- CATGGCTGTACTGCTTGCTG -3'
(R):5'- TCCAGTTGCTGTAGGTGAGC -3'

Sequencing Primer
(F):5'- GCTTGCTGTTCGGGATCATACC -3'
(R):5'- TTGCTGTAGGTGAGCCTCCC -3'

Posted On

2018-07-24