Mutagenetix > Incidental Mutation

Incidental Mutation 'R6720:Lman1l'

529544

Institutional Source

Beutler Lab

Gene Symbol

Lman1l

Ensembl Gene

ENSMUSG00000056271

Gene Name

lectin, mannose-binding 1 like

Synonyms

MMRRC Submission

044838-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6720 (G1)

Quality Score

216.009

Status

Validated

Chromosome

Chromosomal Location

57607085-57620774 bp(-) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 57614072 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000091352 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044937] [ENSMUST00000093832]

AlphaFold

Q8VCD3

Predicted Effect

probably benign
Transcript: ENSMUST00000044937

SMART Domains

Protein: ENSMUSP00000041631
Gene: ENSMUSG00000056271

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Lectin_leg-like	32	256	1.2e-53	PFAM
low complexity region	272	287	N/A	INTRINSIC
coiled coil region	316	337	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000093832

SMART Domains

Protein: ENSMUSP00000091352
Gene: ENSMUSG00000056271

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Lectin_leg-like	32	256	2.7e-53	PFAM
low complexity region	272	287	N/A	INTRINSIC
coiled coil region	316	337	N/A	INTRINSIC
transmembrane domain	439	461	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.6%

Validation Efficiency

98% (50/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mannose-binding type 1 transmembrane protein that contains an N-terminal lectin-like carbohydrate recognition domain. The encoded protein is similar in structure to lectins found in leguminous plants. This lectin is thought to transport newly synthesized glycoproteins from the endoplasmic reticulum (ER) to the ER-Golgi intermediate compartment. [provided by RefSeq, Jan 2017]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	G	A	4: 137,454,686 (GRCm38)	E51K	possibly damaging	Het
Abca1	A	C	4: 53,083,733 (GRCm38)	L700R	probably damaging	Het
Arpc1a	C	A	5: 145,101,222 (GRCm38)		probably null	Het
Baz2b	G	T	2: 59,924,890 (GRCm38)	P241Q	probably damaging	Het
Cd6	T	A	19: 10,794,609 (GRCm38)	T414S	probably benign	Het
Ces2b	A	T	8: 104,836,869 (GRCm38)	E409D	probably benign	Het
Cfap54	A	G	10: 92,821,119 (GRCm38)	Y3024H	probably benign	Het
Chrm1	A	G	19: 8,678,548 (GRCm38)	T206A	probably benign	Het
Clptm1l	T	C	13: 73,618,516 (GRCm38)	W512R	probably damaging	Het
Col15a1	T	A	4: 47,247,552 (GRCm38)		probably null	Het
Cox15	A	G	19: 43,736,789 (GRCm38)	S392P	probably damaging	Het
Cr2	T	C	1: 195,155,200 (GRCm38)	M1197V	probably damaging	Het
Ddx60	A	G	8: 62,000,689 (GRCm38)	K1281E	probably benign	Het
Dnah11	A	G	12: 118,045,646 (GRCm38)	F2094L	probably damaging	Het
Ear2	T	A	14: 44,102,959 (GRCm38)	C25S	probably damaging	Het
Ect2l	T	C	10: 18,140,264 (GRCm38)	D802G	probably damaging	Het
Eftud2	G	A	11: 102,838,623 (GRCm38)	Q84*	probably null	Het
Eif4g3	T	A	4: 138,175,832 (GRCm38)		probably null	Het
Ephb2	T	C	4: 136,657,502 (GRCm38)	D866G	probably damaging	Het
Fam129b	T	A	2: 32,905,826 (GRCm38)	V22D	probably damaging	Het
Farsb	A	G	1: 78,472,497 (GRCm38)	M99T	probably damaging	Het
Foxs1	T	A	2: 152,932,720 (GRCm38)	S138C	probably damaging	Het
Frem1	T	G	4: 83,013,832 (GRCm38)	S211R	probably damaging	Het
Gm19410	G	A	8: 35,807,576 (GRCm38)	R1517Q	probably benign	Het
Gria2	T	C	3: 80,802,304 (GRCm38)	I27M	probably benign	Het
H2-Q7	A	G	17: 35,442,678 (GRCm38)	E299G	probably benign	Het
Hao2	T	G	3: 98,877,135 (GRCm38)	I305L	probably benign	Het
Hectd4	C	T	5: 121,307,381 (GRCm38)	Q122*	probably null	Het
Hivep1	T	A	13: 42,164,284 (GRCm38)	C2079S	probably damaging	Het
Hoxb1	C	A	11: 96,366,987 (GRCm38)	Q248K	probably damaging	Het
Hspb6	A	G	7: 30,554,347 (GRCm38)	D95G	probably benign	Het
Ighv5-2	T	A	12: 113,578,506 (GRCm38)	R117S	probably damaging	Het
Ino80d	A	C	1: 63,058,610 (GRCm38)	S708R	probably damaging	Het
Mmp15	A	G	8: 95,365,314 (GRCm38)	N51D	probably benign	Het
Naip1	T	C	13: 100,423,077 (GRCm38)	M1140V	probably benign	Het
Olfr1053	A	G	2: 86,315,065 (GRCm38)	S74P	probably damaging	Het
Olfr1373	A	G	11: 52,144,693 (GRCm38)	V279A	probably benign	Het
Olfr397	A	G	11: 73,965,465 (GRCm38)	N286D	probably damaging	Het
Olfr890	T	A	9: 38,143,153 (GRCm38)	M1K	probably null	Het
Pard3b	A	T	1: 62,159,470 (GRCm38)	N239I	probably damaging	Het
Parvb	C	T	15: 84,297,979 (GRCm38)	R237W	probably damaging	Het
Pcdha9	T	C	18: 36,998,069 (GRCm38)	S64P	probably damaging	Het
Pdcd1	T	C	1: 94,041,389 (GRCm38)	N68S	probably benign	Het
Pi4ka	G	T	16: 17,326,052 (GRCm38)		probably null	Het
Plekha4	A	T	7: 45,540,886 (GRCm38)	D359V	possibly damaging	Het
Serpinb13	A	G	1: 106,994,062 (GRCm38)	I78V	probably benign	Het
Slc39a7	T	A	17: 34,030,108 (GRCm38)	T269S	probably benign	Het
Sltm	T	G	9: 70,573,710 (GRCm38)	D281E	probably damaging	Het
Zfp708	T	C	13: 67,071,432 (GRCm38)	Y76C	probably damaging	Het
Zfp990	T	A	4: 145,536,927 (GRCm38)	V165D	possibly damaging	Het

Other mutations in Lman1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01784:Lman1l	APN	9	57,620,564 (GRCm38)	missense	probably damaging	1.00
IGL03164:Lman1l	APN	9	57,609,995 (GRCm38)	missense	probably damaging	0.99
IGL03226:Lman1l	APN	9	57,610,007 (GRCm38)	missense	probably benign	0.43
PIT4283001:Lman1l	UTSW	9	57,616,076 (GRCm38)	missense	probably damaging	1.00
R0555:Lman1l	UTSW	9	57,614,101 (GRCm38)	missense	probably benign	0.15
R1168:Lman1l	UTSW	9	57,608,312 (GRCm38)	missense	probably benign	0.00
R1169:Lman1l	UTSW	9	57,609,995 (GRCm38)	missense	probably damaging	0.99
R1591:Lman1l	UTSW	9	57,615,802 (GRCm38)	missense	probably benign	0.30
R2289:Lman1l	UTSW	9	57,613,658 (GRCm38)	missense	possibly damaging	0.76
R3848:Lman1l	UTSW	9	57,608,317 (GRCm38)	missense	possibly damaging	0.48
R4685:Lman1l	UTSW	9	57,609,200 (GRCm38)	missense	probably damaging	0.98
R5170:Lman1l	UTSW	9	57,615,619 (GRCm38)	nonsense	probably null
R5309:Lman1l	UTSW	9	57,611,077 (GRCm38)	missense	probably damaging	0.98
R5312:Lman1l	UTSW	9	57,611,077 (GRCm38)	missense	probably damaging	0.98
R5639:Lman1l	UTSW	9	57,611,866 (GRCm38)	missense	probably benign	0.24
R5655:Lman1l	UTSW	9	57,615,975 (GRCm38)	missense	probably damaging	1.00
R5905:Lman1l	UTSW	9	57,608,263 (GRCm38)	missense	probably damaging	1.00
R6011:Lman1l	UTSW	9	57,615,755 (GRCm38)	missense	probably damaging	1.00
R6028:Lman1l	UTSW	9	57,608,263 (GRCm38)	missense	probably damaging	1.00
R6035:Lman1l	UTSW	9	57,611,747 (GRCm38)	critical splice donor site	probably null
R6035:Lman1l	UTSW	9	57,611,747 (GRCm38)	critical splice donor site	probably null
R6250:Lman1l	UTSW	9	57,615,624 (GRCm38)	missense	probably benign	0.00
R6488:Lman1l	UTSW	9	57,620,643 (GRCm38)	missense	possibly damaging	0.73
R6489:Lman1l	UTSW	9	57,613,726 (GRCm38)	splice site	probably null
R7000:Lman1l	UTSW	9	57,615,948 (GRCm38)	missense	probably benign	0.27
R7139:Lman1l	UTSW	9	57,615,596 (GRCm38)	missense	probably benign	0.37
R8822:Lman1l	UTSW	9	57,607,188 (GRCm38)	missense	probably benign	0.00
R9800:Lman1l	UTSW	9	57,615,777 (GRCm38)	missense	probably damaging	0.99
X0057:Lman1l	UTSW	9	57,615,957 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGCTAGGGATCACAATGGCATG -3'
(R):5'- TGAGACTGTCTCCCATGGAC -3'

Sequencing Primer
(F):5'- CACGGGAGCCTTGTGGTTC -3'
(R):5'- GAGACTGTCTCCCATGGACTAGTC -3'

Posted On

2018-08-01