Mutagenetix > Incidental Mutation

Incidental Mutation 'R6387:Icam4'

514659

Institutional Source

Beutler Lab

Gene Symbol

Icam4

Ensembl Gene

ENSMUSG00000001014

Gene Name

intercellular adhesion molecule 4, Landsteiner-Wiener blood group

Synonyms

1810015M19Rik, Cd242

MMRRC Submission

044536-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6387 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20940728-20941892 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 20941505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 215 (S215R)

Ref Sequence

ENSEMBL: ENSMUSP00000151013 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001040] [ENSMUST00000019616] [ENSMUST00000086399] [ENSMUST00000215077]

AlphaFold

Q9ERM2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001040
AA Change: S215R

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000001040
Gene: ENSMUSG00000001014
AA Change: S215R

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:ICAM_N	37	128	2.5e-17	PFAM
Blast:IG_like	133	224	1e-9	BLAST
transmembrane domain	232	254	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000019616

SMART Domains

Protein: ENSMUSP00000019616
Gene: ENSMUSG00000032174

Domain	Start	End	E-Value	Type
transmembrane domain	12	31	N/A	INTRINSIC
Pfam:ICAM_N	32	122	1.5e-17	PFAM
Pfam:Ig_3	121	202	5.6e-4	PFAM
low complexity region	284	292	N/A	INTRINSIC
IG_like	329	405	1.45e1	SMART
IG	416	488	1.72e-2	SMART
IG	499	569	5.84e-5	SMART
IG_like	580	662	3.57e1	SMART
IG	673	742	3.49e-3	SMART
IGc2	758	819	1.97e-11	SMART
transmembrane domain	833	855	N/A	INTRINSIC
low complexity region	884	902	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000086399

SMART Domains

Protein: ENSMUSP00000083587
Gene: ENSMUSG00000037405

Domain	Start	End	E-Value	Type
low complexity region	8	20	N/A	INTRINSIC
IG_like	33	109	5.91e1	SMART
IG_like	119	208	1.15e2	SMART
IG	319	396	1.49e-2	SMART
IG	407	479	3.91e-6	SMART
transmembrane domain	486	508	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122714

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180870

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215077
AA Change: S215R

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216917

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

98% (42/43)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the Landsteiner-Wiener (LW) blood group antigen(s) that belongs to the immunoglobulin (Ig) superfamily, and that shares similarity with the intercellular adhesion molecule (ICAM) protein family. This ICAM protein contains 2 Ig-like C2-type domains and binds to the leukocyte adhesion LFA-1 protein. The molecular basis of the LW(A)/LW(B) blood group antigens is a single aa variation at position 100; Gln-100=LW(A) and Arg-100=LW(B). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased erythroblastic island formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	C	5: 109,884,881 (GRCm39)	K326E	possibly damaging	Het
Acot1	A	G	12: 84,056,627 (GRCm39)	D115G	probably benign	Het
Adm	T	C	7: 110,227,502 (GRCm39)	I6T	possibly damaging	Het
Ahi1	A	G	10: 20,844,942 (GRCm39)	Y349C	probably damaging	Het
Aldh1a1	A	G	19: 20,595,323 (GRCm39)	E84G	probably damaging	Het
Ankrd31	A	G	13: 96,967,081 (GRCm39)	D520G	probably damaging	Het
Ano4	A	T	10: 88,807,267 (GRCm39)	Y736*	probably null	Het
Atp6v1a	A	G	16: 43,907,806 (GRCm39)	F612S	possibly damaging	Het
Bltp3b	C	T	10: 89,638,919 (GRCm39)	Q442*	probably null	Het
Calcb	G	A	7: 114,319,025 (GRCm39)	V17I	possibly damaging	Het
Cfap70	C	T	14: 20,498,643 (GRCm39)	V15M	probably damaging	Het
Chad	C	T	11: 94,458,663 (GRCm39)	H271Y	possibly damaging	Het
Csgalnact1	C	T	8: 68,811,365 (GRCm39)	G435D	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Eprs1	T	A	1: 185,119,281 (GRCm39)	M487K	possibly damaging	Het
Fat4	A	G	3: 39,037,934 (GRCm39)	E3862G	probably damaging	Het
Gdf10	T	A	14: 33,645,961 (GRCm39)	S37T	probably benign	Het
Hhatl	T	A	9: 121,619,467 (GRCm39)	H39L	probably benign	Het
Ighv1-18	T	C	12: 114,646,280 (GRCm39)	E108G	probably damaging	Het
Iqcd	T	C	5: 120,744,920 (GRCm39)	I416T	probably benign	Het
Marf1	T	A	16: 13,959,504 (GRCm39)	*577L	probably null	Het
Mark2	A	G	19: 7,263,267 (GRCm39)	F167L	probably damaging	Het
Mpdz	T	C	4: 81,299,946 (GRCm39)	T351A	possibly damaging	Het
Mrps27	A	G	13: 99,536,825 (GRCm39)	I113V	possibly damaging	Het
Numbl	C	T	7: 26,976,115 (GRCm39)	T265I	probably damaging	Het
Obsl1	C	T	1: 75,468,006 (GRCm39)	A1296T	probably benign	Het
Or10g9	A	G	9: 39,912,148 (GRCm39)	I125T	probably damaging	Het
Pcdhb21	A	G	18: 37,648,385 (GRCm39)	I505V	probably benign	Het
Pfas	A	G	11: 68,891,291 (GRCm39)	F269L	probably damaging	Het
Prkdc	G	A	16: 15,516,679 (GRCm39)	V1018I	probably benign	Het
Prl4a1	T	A	13: 28,202,482 (GRCm39)	V19E	possibly damaging	Het
Ptpn22	A	G	3: 103,792,702 (GRCm39)	D327G	probably benign	Het
Smad3	G	T	9: 63,562,047 (GRCm39)	D310E	probably benign	Het
Sparcl1	T	A	5: 104,232,926 (GRCm39)	D625V	probably damaging	Het
Spta1	G	A	1: 174,058,899 (GRCm39)	A1945T	probably benign	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Sympk	T	C	7: 18,786,423 (GRCm39)	Y1009H	possibly damaging	Het
Trio	A	G	15: 27,752,825 (GRCm39)	F1026L	probably damaging	Het
Unc5d	T	A	8: 29,365,554 (GRCm39)	K144*	probably null	Het
Unk	A	G	11: 115,945,766 (GRCm39)	N479S	possibly damaging	Het
Zfp710	T	C	7: 79,735,775 (GRCm39)	I514T	probably damaging	Het
Zfp993	A	G	4: 146,741,975 (GRCm39)	T100A	probably damaging	Het

Other mutations in Icam4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Icam4	APN	9	20,941,382 (GRCm39)	missense	possibly damaging	0.90
IGL01835:Icam4	APN	9	20,941,086 (GRCm39)	missense	probably damaging	1.00
IGL02707:Icam4	APN	9	20,941,770 (GRCm39)	missense	possibly damaging	0.89
R0360:Icam4	UTSW	9	20,941,117 (GRCm39)	missense	probably damaging	1.00
R0507:Icam4	UTSW	9	20,940,799 (GRCm39)	missense	possibly damaging	0.55
R5037:Icam4	UTSW	9	20,940,937 (GRCm39)	nonsense	probably null
R6084:Icam4	UTSW	9	20,940,835 (GRCm39)	missense	probably benign	0.01
R6315:Icam4	UTSW	9	20,941,248 (GRCm39)	missense	probably damaging	1.00
R6379:Icam4	UTSW	9	20,941,078 (GRCm39)	missense	probably damaging	1.00
R6931:Icam4	UTSW	9	20,941,747 (GRCm39)	missense	probably damaging	0.97
R7768:Icam4	UTSW	9	20,941,290 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTATGTGACACACGTGTTC -3'
(R):5'- TAGAGGCTGGGCTTAAAGCTG -3'

Sequencing Primer
(F):5'- TGACACACGTGTTCCCAGTG -3'
(R):5'- GGCTTAAAGCTGTGGGCAG -3'

Posted On

2018-05-04