Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00336:Ms4a6b'

5683

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ms4a6b

Ensembl Gene

ENSMUSG00000024677

Gene Name

membrane-spanning 4-domains, subfamily A, member 6B

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00336

Quality Score

Status

Chromosome

Chromosomal Location

11495923-11507767 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11506854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 214 (N214K)

Ref Sequence

ENSEMBL: ENSMUSP00000124685 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025580] [ENSMUST00000161157] [ENSMUST00000161283] [ENSMUST00000163078]

AlphaFold

Q99N09

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025580
AA Change: N214K

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000025580
Gene: ENSMUSG00000024677
AA Change: N214K

Domain	Start	End	E-Value	Type
Pfam:CD20	47	204	2.8e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161157

SMART Domains

Protein: ENSMUSP00000125519
Gene: ENSMUSG00000024677

Domain	Start	End	E-Value	Type
Pfam:CD20	47	117	8e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161283

SMART Domains

Protein: ENSMUSP00000124277
Gene: ENSMUSG00000024677

Domain	Start	End	E-Value	Type
Pfam:CD20	1	69	9.2e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163078
AA Change: N214K

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000124685
Gene: ENSMUSG00000024677
AA Change: N214K

Domain	Start	End	E-Value	Type
Pfam:CD20	47	204	4.2e-41	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	A	G	5: 138,645,366 (GRCm39)	Y417C	probably damaging	Het
Adam28	T	A	14: 68,859,569 (GRCm39)	H548L	possibly damaging	Het
Agbl3	A	T	6: 34,823,771 (GRCm39)	D812V	probably damaging	Het
Aopep	A	T	13: 63,163,237 (GRCm39)	D86V	possibly damaging	Het
Aox1	T	A	1: 58,098,203 (GRCm39)	L305Q	probably damaging	Het
Arhgef38	A	G	3: 132,837,812 (GRCm39)	V706A	probably benign	Het
Arl15	A	G	13: 114,291,288 (GRCm39)	I171V	probably benign	Het
Cacna1s	C	A	1: 136,012,011 (GRCm39)	Y237*	probably null	Het
Ccnt1	T	C	15: 98,462,990 (GRCm39)	T61A	possibly damaging	Het
Col25a1	T	A	3: 129,975,433 (GRCm39)		probably benign	Het
Col4a1	T	A	8: 11,290,077 (GRCm39)		probably benign	Het
Dcun1d1	T	C	3: 35,970,455 (GRCm39)	E130G	possibly damaging	Het
Dnah7b	G	A	1: 46,181,309 (GRCm39)	M1065I	probably benign	Het
Ephb2	T	G	4: 136,384,795 (GRCm39)	K872T	probably damaging	Het
Fga	G	A	3: 82,938,981 (GRCm39)	G452D	probably damaging	Het
Flrt1	T	A	19: 7,074,277 (GRCm39)	N90I	probably damaging	Het
Fut10	T	A	8: 31,685,319 (GRCm39)		probably null	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Gpr137b	T	C	13: 13,549,000 (GRCm39)		probably benign	Het
Gprc5d	G	A	6: 135,093,488 (GRCm39)	Q140*	probably null	Het
Ifi27l2b	T	C	12: 103,417,476 (GRCm39)	K237R	unknown	Het
Ipo8	A	T	6: 148,684,284 (GRCm39)	M836K	possibly damaging	Het
Kcnq4	G	A	4: 120,555,213 (GRCm39)	Q657*	probably null	Het
Lama1	A	T	17: 68,120,943 (GRCm39)	H2693L	probably benign	Het
Lrrc23	A	G	6: 124,755,889 (GRCm39)	W40R	probably damaging	Het
Minar1	T	C	9: 89,485,196 (GRCm39)	D67G	probably damaging	Het
Morn2	C	A	17: 80,602,933 (GRCm39)		probably benign	Het
Nags	A	T	11: 102,039,892 (GRCm39)	S527C	probably damaging	Het
Ndst1	C	T	18: 60,841,028 (GRCm39)	G218D	probably damaging	Het
Or10j5	G	A	1: 172,785,045 (GRCm39)	V228M	probably benign	Het
Or5b94	T	A	19: 12,651,924 (GRCm39)	Y118*	probably null	Het
Or8h7	C	T	2: 86,720,589 (GRCm39)	C310Y	probably benign	Het
Oxa1l	G	T	14: 54,600,802 (GRCm39)	G92*	probably null	Het
Parp16	A	T	9: 65,137,245 (GRCm39)	E157V	probably damaging	Het
Pcdh17	A	T	14: 84,684,984 (GRCm39)	I484F	probably damaging	Het
Pex16	A	G	2: 92,209,580 (GRCm39)	R263G	probably benign	Het
Pkd1l3	G	A	8: 110,356,869 (GRCm39)	E765K	possibly damaging	Het
Plce1	T	C	19: 38,640,350 (GRCm39)	V532A	probably damaging	Het
Polq	A	G	16: 36,885,609 (GRCm39)		probably benign	Het
Pramel5	T	C	4: 143,998,191 (GRCm39)	T351A	probably damaging	Het
Prokr1	A	T	6: 87,565,593 (GRCm39)	I84N	probably damaging	Het
Prss30	A	T	17: 24,192,695 (GRCm39)	S162T	probably benign	Het
Ranbp2	A	G	10: 58,287,806 (GRCm39)	K25E	probably damaging	Het
Rapsn	A	G	2: 90,866,205 (GRCm39)	T22A	probably damaging	Het
Rhoj	G	T	12: 75,355,680 (GRCm39)	G9V	probably damaging	Het
Rnf213	A	G	11: 119,340,169 (GRCm39)	R3467G	probably benign	Het
Rreb1	C	A	13: 38,113,622 (GRCm39)	S327*	probably null	Het
Scn5a	G	A	9: 119,315,290 (GRCm39)	P1806L	probably damaging	Het
Sema6a	C	A	18: 47,423,042 (GRCm39)		probably null	Het
Stag3	G	A	5: 138,295,921 (GRCm39)	E416K	probably benign	Het
Stpg1	T	A	4: 135,256,856 (GRCm39)	S216T	possibly damaging	Het
Tfeb	C	A	17: 48,102,589 (GRCm39)	N426K	probably benign	Het
Trp53bp1	G	T	2: 121,087,060 (GRCm39)	Q199K	possibly damaging	Het
Ubr4	A	G	4: 139,155,877 (GRCm39)	D2234G	probably damaging	Het
Ush1c	T	G	7: 45,846,194 (GRCm39)	Q866P	probably benign	Het
Vdr	T	A	15: 97,782,735 (GRCm39)	D29V	probably damaging	Het
Vps13c	T	C	9: 67,853,224 (GRCm39)	V2439A	probably benign	Het
Xirp2	T	C	2: 67,342,942 (GRCm39)	S1728P	possibly damaging	Het
Zfp9	A	G	6: 118,441,436 (GRCm39)	S409P	probably damaging	Het

Other mutations in Ms4a6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01373:Ms4a6b	APN	19	11,506,871 (GRCm39)	missense	possibly damaging	0.71
IGL03258:Ms4a6b	APN	19	11,499,072 (GRCm39)	missense	probably damaging	1.00
R0443:Ms4a6b	UTSW	19	11,499,044 (GRCm39)	missense	possibly damaging	0.95
R0616:Ms4a6b	UTSW	19	11,504,262 (GRCm39)	critical splice donor site	probably null
R1649:Ms4a6b	UTSW	19	11,497,806 (GRCm39)	missense	possibly damaging	0.94
R1826:Ms4a6b	UTSW	19	11,501,298 (GRCm39)	missense	probably damaging	1.00
R3964:Ms4a6b	UTSW	19	11,499,098 (GRCm39)	missense	probably benign	0.01
R3966:Ms4a6b	UTSW	19	11,499,098 (GRCm39)	missense	probably benign	0.01
R5380:Ms4a6b	UTSW	19	11,499,044 (GRCm39)	missense	probably damaging	1.00
R5862:Ms4a6b	UTSW	19	11,499,167 (GRCm39)	missense	probably benign	0.13
R5922:Ms4a6b	UTSW	19	11,497,743 (GRCm39)	missense	possibly damaging	0.94
R6048:Ms4a6b	UTSW	19	11,497,734 (GRCm39)	missense	possibly damaging	0.62
R6120:Ms4a6b	UTSW	19	11,499,059 (GRCm39)	missense	probably benign	0.24
R6371:Ms4a6b	UTSW	19	11,497,728 (GRCm39)	missense	probably damaging	1.00
R7057:Ms4a6b	UTSW	19	11,504,253 (GRCm39)	missense	possibly damaging	0.79
R7253:Ms4a6b	UTSW	19	11,497,760 (GRCm39)	missense	probably benign	0.26
R7516:Ms4a6b	UTSW	19	11,506,907 (GRCm39)	missense	probably benign
R7543:Ms4a6b	UTSW	19	11,499,155 (GRCm39)	missense	not run
R7645:Ms4a6b	UTSW	19	11,501,304 (GRCm39)	missense	probably damaging	1.00
R9687:Ms4a6b	UTSW	19	11,497,806 (GRCm39)	missense	possibly damaging	0.94
Z1176:Ms4a6b	UTSW	19	11,506,850 (GRCm39)	critical splice acceptor site	probably null
Z1177:Ms4a6b	UTSW	19	11,497,787 (GRCm39)	missense	probably benign	0.31

Posted On

2012-04-20