Mutagenetix > Incidental Mutations

Incidental Mutation 'R5434:Ms4a6c'

428236

Institutional Source

Beutler Lab

Gene Symbol

Ms4a6c

Ensembl Gene

ENSMUSG00000079419

Gene Name

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

Synonyms

2210417N07Rik, 2200009H22Rik

MMRRC Submission

042999-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R5434 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11469366-11482192 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11471224 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 40 (H40Q)

Ref Sequence

ENSEMBL: ENSMUSP00000132425 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165310]

Predicted Effect

probably benign
Transcript: ENSMUST00000165310
AA Change: H40Q

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000132425
Gene: ENSMUSG00000079419
AA Change: H40Q

Domain	Start	End	E-Value	Type
Pfam:CD20	47	207	3.2e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186054

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187462

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192201

Meta Mutation Damage Score

0.1912

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	C	3: 36,875,516	D94A	probably damaging	Het
Angptl6	G	T	9: 20,875,525	Q301K	probably damaging	Het
Ankfn1	T	C	11: 89,453,187	Y323C	probably damaging	Het
Arid5b	T	A	10: 68,096,889	H818L	possibly damaging	Het
Armc4	T	C	18: 7,222,550	K573R	probably benign	Het
Atg13	G	T	2: 91,684,765		probably null	Het
Bop1	T	C	15: 76,455,411	M245V	probably benign	Het
Ccdc105	A	T	10: 78,748,650	L346*	probably null	Het
Ces2a	T	A	8: 104,737,409	F224L	probably damaging	Het
Cntnap5b	A	G	1: 100,072,201	H228R	probably benign	Het
Col9a2	A	T	4: 121,040,965	R25*	probably null	Het
Dcaf12	G	T	4: 41,302,744	T137N	probably benign	Het
Dennd4c	A	G	4: 86,811,456	N765S	probably benign	Het
Dnah12	A	G	14: 26,859,299	Y3162C	probably damaging	Het
Dpf1	G	T	7: 29,311,331	C123F	possibly damaging	Het
Flvcr1	C	A	1: 191,026,009	A29S	probably benign	Het
Frmd3	A	T	4: 74,187,796	I560F	probably damaging	Het
Galnt15	G	A	14: 32,049,843	V282I	possibly damaging	Het
Gm14412	A	T	2: 177,314,612	C497S	probably damaging	Het
Gm20830	A	T	Y: 6,916,464	Y218*	probably null	Het
Hmcn2	C	A	2: 31,420,363	T3323N	probably damaging	Het
Idh1	T	A	1: 65,175,336	Q6L	probably benign	Het
Kansl2-ps	A	G	7: 72,673,065		noncoding transcript	Het
Kcnj10	T	A	1: 172,369,480	V187E	probably damaging	Het
Khnyn	A	G	14: 55,887,500	T404A	probably damaging	Het
Lrp1b	T	A	2: 41,770,868	N76I	probably damaging	Het
Lrrc9	G	A	12: 72,454,088	C196Y	probably damaging	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Mgp	T	A	6: 136,872,774	N62I	probably benign	Het
Necab3	A	G	2: 154,547,459	S121P	probably damaging	Het
Nfkb1	T	A	3: 135,626,611	K128*	probably null	Het
Nr4a3	A	T	4: 48,067,861	R486W	probably damaging	Het
Nwd2	A	G	5: 63,807,648	K1525R	probably benign	Het
Pbrm1	G	T	14: 31,085,011	D1085Y	probably damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rbm15	A	G	3: 107,330,467	S872P	possibly damaging	Het
Retsat	A	G	6: 72,601,535	I77V	probably damaging	Het
Rpl32	A	G	6: 115,807,035	F77L	probably benign	Het
Ryr3	A	T	2: 112,794,469	V2202D	probably damaging	Het
Sars2	G	A	7: 28,750,291	R387Q	probably null	Het
Serpinb3d	G	T	1: 107,078,533	T275N	probably benign	Het
Sf3a1	C	A	11: 4,174,041	P296Q	probably damaging	Het
Sh3bgr	A	G	16: 96,224,544		probably benign	Het
St3gal3	A	G	4: 117,940,050	L332P	probably damaging	Het
Ston1	A	G	17: 88,645,311		probably benign	Het
Syne2	T	A	12: 75,971,875	S3383T	probably damaging	Het
Tnfsf14	A	G	17: 57,192,592	S87P	probably benign	Het
Trap1	T	C	16: 4,044,665	D583G	probably benign	Het
Ube2cbp	A	T	9: 86,427,407	I212N	possibly damaging	Het
Usp34	T	A	11: 23,412,271	D1572E	probably damaging	Het
Vmn1r179	A	T	7: 23,928,962	T193S	probably benign	Het
Vmn2r111	C	A	17: 22,548,489	V676L	probably damaging	Het
Wee1	TCCCC	TCCC	7: 110,124,569		probably null	Het
Wls	C	T	3: 159,934,340	R536C	probably damaging	Het
Zfhx3	A	G	8: 108,792,399	D51G	probably damaging	Het

Other mutations in Ms4a6c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Ms4a6c	APN	19	11478312	missense	probably benign	0.08
IGL02053:Ms4a6c	APN	19	11478222	missense	probably benign	0.31
IGL02651:Ms4a6c	APN	19	11478305	missense	possibly damaging	0.46
IGL02941:Ms4a6c	APN	19	11471102	utr 5 prime	probably benign
R0962:Ms4a6c	UTSW	19	11471142	missense	probably benign	0.01
R5592:Ms4a6c	UTSW	19	11480277	intron	probably benign
R5592:Ms4a6c	UTSW	19	11481132	intron	probably benign
R5594:Ms4a6c	UTSW	19	11478173	missense	probably benign	0.38
R5945:Ms4a6c	UTSW	19	11480499	intron	probably benign
R6214:Ms4a6c	UTSW	19	11471136	missense	possibly damaging	0.86
R7349:Ms4a6c	UTSW	19	11478191	missense	probably damaging	1.00
R7484:Ms4a6c	UTSW	19	11472529	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGCACGTTACTTTATAAGAGCTGAG -3'
(R):5'- GAGTGCAGTCCAAGTTCATTG -3'

Sequencing Primer
(F):5'- ATTCCACAGGTAGTGACC -3'
(R):5'- TAAACAGTTTGCCCAGGGTC -3'

Posted On

2016-09-01