Mutagenetix > Incidental Mutation

Incidental Mutation 'R7193:Mbl1'

559741

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

045334-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7193 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40873415-40881558 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40880669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 186 (F186L)

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: F186L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (60/60)

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
2700049A03Rik	A	G	12: 71,265,963 (GRCm39)		probably null	Het
Abca16	T	C	7: 120,026,409 (GRCm39)	S124P	probably damaging	Het
Acan	A	T	7: 78,736,090 (GRCm39)	S179C	probably damaging	Het
Atg2b	A	C	12: 105,630,967 (GRCm39)	H319Q	probably damaging	Het
Bptf	G	A	11: 106,945,635 (GRCm39)	Q2535*	probably null	Het
Brpf3	T	C	17: 29,055,665 (GRCm39)	*1205R	probably null	Het
Cabyr	C	A	18: 12,884,815 (GRCm39)	P434Q	probably damaging	Het
Cacna1g	C	A	11: 94,300,057 (GRCm39)	D2268Y	possibly damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cct4	A	G	11: 22,947,111 (GRCm39)	T201A	probably benign	Het
Cdyl2	A	C	8: 117,350,733 (GRCm39)	S133A	probably benign	Het
Cep76	A	G	18: 67,774,204 (GRCm39)	L14P	possibly damaging	Het
Cert1	T	A	13: 96,767,341 (GRCm39)		probably null	Het
Crybg3	A	T	16: 59,379,956 (GRCm39)	S433T	possibly damaging	Het
Cul9	T	C	17: 46,849,423 (GRCm39)	K574R	probably damaging	Het
Cyp2u1	T	C	3: 131,084,792 (GRCm39)	I527V	probably benign	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Eif4a3l1	A	T	6: 136,306,213 (GRCm39)	I225F	probably damaging	Het
F5	A	G	1: 164,046,966 (GRCm39)	N2142S	probably damaging	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Flnc	A	G	6: 29,450,870 (GRCm39)	Y1506C	probably damaging	Het
Foxred2	T	A	15: 77,836,230 (GRCm39)	S376C	probably damaging	Het
Gbe1	T	C	16: 70,292,258 (GRCm39)	L530P	probably damaging	Het
Hmcn1	T	C	1: 150,525,331 (GRCm39)	R3398G	probably null	Het
Igf1r	T	C	7: 67,836,905 (GRCm39)	L587P	probably damaging	Het
Ints15	A	G	5: 143,293,598 (GRCm39)	V293A	probably benign	Het
Kcna3	T	C	3: 106,943,853 (GRCm39)	Y39H	probably benign	Het
Krtap5-2	GCCACAGCCTCCCTTGCAACCCCCACAGGAGCCACAGCCCCCACAGGAACTACAGCCTCCCTTGCA	GCTACAGCCTCCCTTGCA	7: 141,728,980 (GRCm39)		probably benign	Het
Ncam2	A	T	16: 81,386,683 (GRCm39)	K687N	probably damaging	Het
Nedd4l	T	C	18: 65,130,441 (GRCm39)	V24A	probably damaging	Het
Nek1	A	G	8: 61,526,612 (GRCm39)	E661G	probably damaging	Het
Nudt14	G	T	12: 112,902,940 (GRCm39)	D28E	probably benign	Het
Or13n4	T	C	7: 106,423,798 (GRCm39)		probably benign	Het
Or1j15	T	A	2: 36,459,248 (GRCm39)	C213S	probably benign	Het
Or2n1	T	A	17: 38,485,987 (GRCm39)	I4N	probably benign	Het
Or4k47	A	T	2: 111,451,600 (GRCm39)	V273E	probably damaging	Het
Pdk4	A	T	6: 5,487,089 (GRCm39)	M319K	probably benign	Het
Pfkp	T	C	13: 6,643,252 (GRCm39)	N522S	probably benign	Het
Pias2	T	C	18: 77,207,817 (GRCm39)	V234A	possibly damaging	Het
Pik3c2b	C	A	1: 133,007,512 (GRCm39)	H625Q	probably benign	Het
Pnpla7	T	C	2: 24,941,627 (GRCm39)	S1117P	probably damaging	Het
Prdm2	A	T	4: 142,907,464 (GRCm39)	V36D	probably damaging	Het
Prep	C	T	10: 44,968,795 (GRCm39)	R98C	probably benign	Het
Rae1	T	C	2: 172,850,110 (GRCm39)		probably null	Het
Rgs3	T	A	4: 62,533,573 (GRCm39)	V138E	probably damaging	Het
Rnf185	T	C	11: 3,375,329 (GRCm39)	T142A	possibly damaging	Het
Rsph6a	C	A	7: 18,799,572 (GRCm39)	P401Q	probably damaging	Het
Runx3	A	T	4: 134,848,456 (GRCm39)	T14S	probably benign	Het
Scaf11	A	G	15: 96,317,042 (GRCm39)	S841P	probably damaging	Het
Spta1	T	A	1: 174,012,178 (GRCm39)	L328Q	probably damaging	Het
Sqor	G	A	2: 122,645,929 (GRCm39)	V318M	probably damaging	Het
Stox2	T	C	8: 47,639,489 (GRCm39)	T902A	probably benign	Het
Susd3	T	C	13: 49,384,679 (GRCm39)	H248R	probably damaging	Het
Syne1	T	C	10: 5,183,406 (GRCm39)	Y4133C	probably damaging	Het
Tbc1d20	C	T	2: 152,153,337 (GRCm39)	T289M	probably benign	Het
Unc80	T	A	1: 66,588,943 (GRCm39)	F1036Y	possibly damaging	Het
Zbtb7c	T	C	18: 76,271,009 (GRCm39)	C366R	probably damaging	Het
Zeb1	A	T	18: 5,772,756 (GRCm39)	D1015V	probably damaging	Het
Zfp606	T	G	7: 12,227,966 (GRCm39)	S696A	probably benign	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
R6700:Mbl1	UTSW	14	40,880,511 (GRCm39)	missense	probably damaging	1.00
R8817:Mbl1	UTSW	14	40,875,555 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGCCTCATCTACTCTGATTTCAGTG -3'
(R):5'- TTTCCTCAGGCTGGGAACTC -3'

Sequencing Primer
(F):5'- CCTTCTCAATGGGCAAAAAGTCTGG -3'
(R):5'- TCGCAGACAGCCTTGAAG -3'

Posted On

2019-06-26