Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00336

Quality Score

Status

Chromosome

Chromosomal Location

11516512-11531256 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11529490 bp (GRCm38)

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
2010111I01Rik	A	T	13: 63,015,423	D86V	possibly damaging	Het
A430033K04Rik	A	G	5: 138,647,104	Y417C	probably damaging	Het
Adam28	T	A	14: 68,622,120	H548L	possibly damaging	Het
AF529169	T	C	9: 89,603,143	D67G	probably damaging	Het
Agbl3	A	T	6: 34,846,836	D812V	probably damaging	Het
Aox1	T	A	1: 58,059,044	L305Q	probably damaging	Het
Arhgef38	A	G	3: 133,132,051	V706A	probably benign	Het
Arl15	A	G	13: 114,154,752	I171V	probably benign	Het
Cacna1s	C	A	1: 136,084,273	Y237*	probably null	Het
Ccnt1	T	C	15: 98,565,109	T61A	possibly damaging	Het
Col25a1	T	A	3: 130,181,784		probably benign	Het
Col4a1	T	A	8: 11,240,077		probably benign	Het
Dcun1d1	T	C	3: 35,916,306	E130G	possibly damaging	Het
Dnah7b	G	A	1: 46,142,149	M1065I	probably benign	Het
Ephb2	T	G	4: 136,657,484	K872T	probably damaging	Het
Fga	G	A	3: 83,031,674	G452D	probably damaging	Het
Flrt1	T	A	19: 7,096,912	N90I	probably damaging	Het
Fut10	T	A	8: 31,195,291		probably null	Het
Gm4553	T	C	7: 142,165,227	S155G	unknown	Het
Gpr137b	T	C	13: 13,374,415		probably benign	Het
Gprc5d	G	A	6: 135,116,490	Q140*	probably null	Het
Ifi27l2b	T	C	12: 103,451,217	K237R	unknown	Het
Ipo8	A	T	6: 148,782,786	M836K	possibly damaging	Het
Kcnq4	G	A	4: 120,698,016	Q657*	probably null	Het
Lama1	A	T	17: 67,813,948	H2693L	probably benign	Het
Lrrc23	A	G	6: 124,778,926	W40R	probably damaging	Het
Morn2	C	A	17: 80,295,504		probably benign	Het
Nags	A	T	11: 102,149,066	S527C	probably damaging	Het
Ndst1	C	T	18: 60,707,956	G218D	probably damaging	Het
Olfr1097	C	T	2: 86,890,245	C310Y	probably benign	Het
Olfr1442	T	A	19: 12,674,560	Y118*	probably null	Het
Olfr16	G	A	1: 172,957,478	V228M	probably benign	Het
Oxa1l	G	T	14: 54,363,345	G92*	probably null	Het
Parp16	A	T	9: 65,229,963	E157V	probably damaging	Het
Pcdh17	A	T	14: 84,447,544	I484F	probably damaging	Het
Pex16	A	G	2: 92,379,235	R263G	probably benign	Het
Pkd1l3	G	A	8: 109,630,237	E765K	possibly damaging	Het
Plce1	T	C	19: 38,651,906	V532A	probably damaging	Het
Polq	A	G	16: 37,065,247		probably benign	Het
Pramel5	T	C	4: 144,271,621	T351A	probably damaging	Het
Prokr1	A	T	6: 87,588,611	I84N	probably damaging	Het
Prss30	A	T	17: 23,973,721	S162T	probably benign	Het
Ranbp2	A	G	10: 58,451,984	K25E	probably damaging	Het
Rapsn	A	G	2: 91,035,860	T22A	probably damaging	Het
Rhoj	G	T	12: 75,308,906	G9V	probably damaging	Het
Rnf213	A	G	11: 119,449,343	R3467G	probably benign	Het
Rreb1	C	A	13: 37,929,646	S327*	probably null	Het
Scn5a	G	A	9: 119,486,224	P1806L	probably damaging	Het
Sema6a	C	A	18: 47,289,975		probably null	Het
Stag3	G	A	5: 138,297,659	E416K	probably benign	Het
Stpg1	T	A	4: 135,529,545	S216T	possibly damaging	Het
Tfeb	C	A	17: 47,791,664	N426K	probably benign	Het
Trp53bp1	G	T	2: 121,256,579	Q199K	possibly damaging	Het
Ubr4	A	G	4: 139,428,566	D2234G	probably damaging	Het
Ush1c	T	G	7: 46,196,770	Q866P	probably benign	Het
Vdr	T	A	15: 97,884,854	D29V	probably damaging	Het
Vps13c	T	C	9: 67,945,942	V2439A	probably benign	Het
Xirp2	T	C	2: 67,512,598	S1728P	possibly damaging	Het
Zfp9	A	G	6: 118,464,475	S409P	probably damaging	Het

Other mutations in Ms4a6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01373:Ms4a6b	APN	19	11529507	missense	possibly damaging	0.71
IGL03258:Ms4a6b	APN	19	11521708	missense	probably damaging	1.00
R0443:Ms4a6b	UTSW	19	11521680	missense	possibly damaging	0.95
R0616:Ms4a6b	UTSW	19	11526898	critical splice donor site	probably null
R1649:Ms4a6b	UTSW	19	11520442	missense	possibly damaging	0.94
R1826:Ms4a6b	UTSW	19	11523934	missense	probably damaging	1.00
R3964:Ms4a6b	UTSW	19	11521734	missense	probably benign	0.01
R3966:Ms4a6b	UTSW	19	11521734	missense	probably benign	0.01
R5380:Ms4a6b	UTSW	19	11521680	missense	probably damaging	1.00
R5862:Ms4a6b	UTSW	19	11521803	missense	probably benign	0.13
R5922:Ms4a6b	UTSW	19	11520379	missense	possibly damaging	0.94
R6048:Ms4a6b	UTSW	19	11520370	missense	possibly damaging	0.62
R6120:Ms4a6b	UTSW	19	11521695	missense	probably benign	0.24
R6371:Ms4a6b	UTSW	19	11520364	missense	probably damaging	1.00
R7057:Ms4a6b	UTSW	19	11526889	missense	possibly damaging	0.79
R7253:Ms4a6b	UTSW	19	11520396	missense	probably benign	0.26
R7516:Ms4a6b	UTSW	19	11529543	missense	probably benign
R7543:Ms4a6b	UTSW	19	11521791	missense	not run
R7645:Ms4a6b	UTSW	19	11523940	missense	probably damaging	1.00
Z1176:Ms4a6b	UTSW	19	11529486	critical splice acceptor site	probably null
Z1177:Ms4a6b	UTSW	19	11520423	missense	probably benign	0.31

Posted On

2012-04-20