Mutagenetix > Incidental Mutation

Incidental Mutation 'R6371:Ms4a6b'

513548

Institutional Source

Beutler Lab

Gene Symbol

Ms4a6b

Ensembl Gene

ENSMUSG00000024677

Gene Name

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

Synonyms

MMRRC Submission

044521-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6371 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11495923-11507767 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11497728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 9 (E9G)

Ref Sequence

ENSEMBL: ENSMUSP00000124685 (fasta)

Gene Model

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

AlphaFold

Q99N09

Predicted Effect

probably damaging
Transcript: ENSMUST00000025580
AA Change: E9G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025580
Gene: ENSMUSG00000024677
AA Change: E9G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159587

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161157
AA Change: E9G

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125519
Gene: ENSMUSG00000024677
AA Change: E9G

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

probably damaging
Transcript: ENSMUST00000163078
AA Change: E9G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124685
Gene: ENSMUSG00000024677
AA Change: E9G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189628

Meta Mutation Damage Score

0.4235

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.2%
20x: 94.1%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	C	T	12: 113,453,894 (GRCm39)	S237L	probably damaging	Het
Ank3	T	G	10: 69,644,709 (GRCm39)	L58V	probably damaging	Het
Arsb	A	T	13: 93,926,574 (GRCm39)	I115F	possibly damaging	Het
Atad2b	T	C	12: 5,023,970 (GRCm39)	Y32H	probably damaging	Het
Brd1	A	C	15: 88,598,201 (GRCm39)	M515R	probably benign	Het
Cbx7	A	G	15: 79,803,023 (GRCm39)	S30P	possibly damaging	Het
Cdk12	A	G	11: 98,136,114 (GRCm39)	T1123A	unknown	Het
Cep170b	A	G	12: 112,707,379 (GRCm39)	D375G	probably damaging	Het
Clcn3	T	C	8: 61,390,369 (GRCm39)	K164E	probably benign	Het
Clip4	A	C	17: 72,163,459 (GRCm39)	K677T	probably damaging	Het
Clrn2	T	C	5: 45,617,540 (GRCm39)	I137T	possibly damaging	Het
Cntln	T	C	4: 84,802,816 (GRCm39)	S39P	probably damaging	Het
Crocc2	T	A	1: 93,143,353 (GRCm39)	N1318K	probably benign	Het
Emc1	C	T	4: 139,098,976 (GRCm39)	Q820*	probably null	Het
Fbxl2	G	A	9: 113,818,451 (GRCm39)	T170I	probably damaging	Het
Fyb2	A	G	4: 104,852,975 (GRCm39)	T552A	probably damaging	Het
Garin5b	A	G	7: 4,762,358 (GRCm39)	V257A	probably benign	Het
Gm2381	G	A	7: 42,470,010 (GRCm39)	A38V	probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Helz2	C	T	2: 180,875,260 (GRCm39)	E1745K	probably damaging	Het
Hspg2	T	C	4: 137,269,006 (GRCm39)	Y2213H	probably damaging	Het
Ifnar2	T	C	16: 91,184,986 (GRCm39)	Y24H	possibly damaging	Het
Inpp5d	T	A	1: 87,627,397 (GRCm39)	L566Q	probably damaging	Het
Itgb2	C	A	10: 77,384,431 (GRCm39)	P184H	probably damaging	Het
Kcnb2	T	A	1: 15,781,436 (GRCm39)	D769E	probably benign	Het
Lrp1b	A	G	2: 40,741,666 (GRCm39)	M3087T	possibly damaging	Het
Ltbp3	A	G	19: 5,795,800 (GRCm39)		probably null	Het
Nat3	G	A	8: 67,976,831 (GRCm39)		probably null	Het
Ndufaf1	A	T	2: 119,490,534 (GRCm39)	D175E	probably damaging	Het
Nop58	T	G	1: 59,750,471 (GRCm39)		probably benign	Het
Or10al6	A	G	17: 38,083,326 (GRCm39)	T261A	probably benign	Het
Or8s16	A	G	15: 98,211,219 (GRCm39)	Y71H	possibly damaging	Het
P3h4	C	T	11: 100,302,575 (GRCm39)	E354K	probably benign	Het
Plekhm2	T	G	4: 141,356,843 (GRCm39)	T787P	possibly damaging	Het
Ppia	C	T	11: 6,368,230 (GRCm39)	T37I	probably benign	Het
Reln	T	A	5: 22,200,511 (GRCm39)	M1330L	probably benign	Het
Ric1	A	G	19: 29,539,426 (GRCm39)	E53G	probably benign	Het
Sgip1	T	A	4: 102,823,482 (GRCm39)	V721E	probably damaging	Het
Slc33a1	A	T	3: 63,850,709 (GRCm39)	D538E	probably benign	Het
Son	T	C	16: 91,471,629 (GRCm39)			Het
Srebf1	A	T	11: 60,094,341 (GRCm39)	S591R	probably damaging	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Taok2	G	A	7: 126,469,319 (GRCm39)	R1170W	probably damaging	Het
Tsc2	A	T	17: 24,845,688 (GRCm39)	V210E	probably benign	Het
Ttc6	T	A	12: 57,775,249 (GRCm39)	N1648K	possibly damaging	Het
Vgll3	C	T	16: 65,636,131 (GRCm39)	P94L	probably damaging	Het
Vmn2r54	A	T	7: 12,349,362 (GRCm39)	V740E	probably damaging	Het
Yeats2	A	G	16: 20,040,460 (GRCm39)	E1127G	possibly damaging	Het
Zfp709	T	A	8: 72,643,329 (GRCm39)	Y252N	probably damaging	Het

Other mutations in Ms4a6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Ms4a6b	APN	19	11,506,854 (GRCm39)	missense	possibly damaging	0.72
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
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

Predicted Primers

PCR Primer
(F):5'- GTGCTGTGTACTCTGATCATGC -3'
(R):5'- ACATAGAGCCTCACCCTCTG -3'

Sequencing Primer
(F):5'- TATCCAACACTATCCAACTTTGCATC -3'
(R):5'- TGCCCTCTACCCACCCCAG -3'

Posted On

2018-04-27