Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03167:Mbl1'

411694

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mbl1

Ensembl Gene

ENSMUSG00000037780

Gene Name

mannose-binding lectin (protein A) 1

Synonyms

MBP-A, MBL-A

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03167

Quality Score

Status

Chromosome

Chromosomal Location

40873415-40881558 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40880543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 144 (S144T)

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 benign
Transcript: ENSMUST00000225792
AA Change: S144T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Coding Region Coverage

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl3	A	C	6: 34,834,594 (GRCm39)	K921T	possibly damaging	Het
Agtpbp1	A	T	13: 59,679,894 (GRCm39)		probably benign	Het
Ankrd22	A	T	19: 34,143,174 (GRCm39)	M1K	probably null	Het
Ano5	G	A	7: 51,235,259 (GRCm39)	V698I	probably damaging	Het
Ccnh	A	G	13: 85,345,685 (GRCm39)		probably benign	Het
Col15a1	A	T	4: 47,282,635 (GRCm39)	I771F	probably damaging	Het
Dmrt1	T	C	19: 25,523,257 (GRCm39)	S203P	possibly damaging	Het
Exoc5	A	T	14: 49,288,802 (GRCm39)	V82E	probably damaging	Het
Ffar3	A	T	7: 30,554,780 (GRCm39)	V180E	probably damaging	Het
Fhad1	T	C	4: 141,700,108 (GRCm39)	S381G	probably benign	Het
Foxf1	C	A	8: 121,811,647 (GRCm39)	Y170*	probably null	Het
Glis1	A	G	4: 107,293,102 (GRCm39)	D75G	possibly damaging	Het
Gpr151	T	C	18: 42,711,439 (GRCm39)	H413R	probably benign	Het
Gtf3c1	T	C	7: 125,269,752 (GRCm39)		probably null	Het
Htt	T	A	5: 34,976,330 (GRCm39)	F711I	probably damaging	Het
Il1rapl1	A	G	X: 85,790,867 (GRCm39)	I691T	possibly damaging	Het
Iqgap2	T	C	13: 95,821,406 (GRCm39)	Y579C	probably benign	Het
Lingo3	A	G	10: 80,671,178 (GRCm39)	S251P	probably damaging	Het
Musk	A	T	4: 58,366,821 (GRCm39)	R462W	possibly damaging	Het
Mynn	T	C	3: 30,663,191 (GRCm39)	L373P	probably damaging	Het
Myoz2	G	A	3: 122,800,139 (GRCm39)	R230*	probably null	Het
Nup35	A	G	2: 80,488,660 (GRCm39)		probably benign	Het
Or14a259	C	T	7: 86,013,128 (GRCm39)	C139Y	probably damaging	Het
Or2d4	A	G	7: 106,543,852 (GRCm39)	S119P	probably damaging	Het
Or5ak4	C	T	2: 85,161,664 (GRCm39)	D193N	probably benign	Het
Or5m3	T	A	2: 85,838,511 (GRCm39)	Y130*	probably null	Het
Pira2	A	T	7: 3,843,919 (GRCm39)	S618T	probably damaging	Het
Plch1	G	A	3: 63,630,165 (GRCm39)		probably benign	Het
Pparg	T	G	6: 115,450,188 (GRCm39)	F396V	probably damaging	Het
Scaper	T	C	9: 55,767,108 (GRCm39)	E441G	probably damaging	Het
Serpinb2	T	A	1: 107,450,485 (GRCm39)	C161S	probably benign	Het
Skint5	C	T	4: 113,751,047 (GRCm39)	E333K	unknown	Het
Slc22a8	C	T	19: 8,587,322 (GRCm39)	P461S	probably damaging	Het
Slc38a6	C	T	12: 73,397,311 (GRCm39)	Q318*	probably null	Het
Sycp2	T	C	2: 178,021,291 (GRCm39)	K512E	probably damaging	Het
Tas2r103	T	A	6: 133,013,623 (GRCm39)	N148Y	probably damaging	Het
Tcf7l1	A	G	6: 72,609,979 (GRCm39)	M257T	possibly damaging	Het
Tert	T	A	13: 73,788,119 (GRCm39)	N792K	probably damaging	Het
Thada	A	T	17: 84,766,277 (GRCm39)	V43E	probably damaging	Het
Trabd2b	T	C	4: 114,467,195 (GRCm39)	S475P	probably benign	Het
Vmn2r117	A	G	17: 23,696,681 (GRCm39)	V242A	probably damaging	Het
Ypel3	A	T	7: 126,379,247 (GRCm39)	I107F	probably damaging	Het
Zfp352	T	C	4: 90,112,939 (GRCm39)	S360P	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
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
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

Posted On

2016-08-02