Mutagenetix > Incidental Mutation

Incidental Mutation 'R3739:Ms4a18'

270317

Institutional Source

Beutler Lab

Gene Symbol

Ms4a18

Ensembl Gene

ENSMUSG00000094584

Gene Name

membrane-spanning 4-domains, subfamily A, member 18

Synonyms

5033428B15Rik

MMRRC Submission

040725-MU

Accession Numbers

Essential gene?

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

Stock #

R3739 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10974388-10995390 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 10988863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 164 (H164Q)

Ref Sequence

ENSEMBL: ENSMUSP00000136529 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000177684]

AlphaFold

J3QN01

Predicted Effect

probably damaging
Transcript: ENSMUST00000177684
AA Change: H164Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000136529
Gene: ENSMUSG00000094584
AA Change: H164Q

Domain	Start	End	E-Value	Type
Pfam:CD20	152	299	1.2e-18	PFAM
low complexity region	300	324	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	A	T	11: 48,910,108 (GRCm39)	L775*	probably null	Het
Abcb8	A	G	5: 24,605,619 (GRCm39)	S168G	probably benign	Het
Ahnak2	T	C	12: 112,740,992 (GRCm39)	I1027V	probably benign	Het
Alox12e	A	G	11: 70,210,668 (GRCm39)	L318P	probably damaging	Het
Ankrd11	A	G	8: 123,623,454 (GRCm39)		probably benign	Het
Anks1b	T	A	10: 89,869,078 (GRCm39)	I46N	probably damaging	Het
Apoa5	G	C	9: 46,180,415 (GRCm39)	W7S	probably damaging	Het
Arnt2	T	C	7: 83,993,009 (GRCm39)	H177R	probably null	Het
Cacna1c	T	C	6: 118,718,913 (GRCm39)	D220G	probably benign	Het
Dst	C	T	1: 34,307,975 (GRCm39)		probably benign	Het
Eml6	C	A	11: 29,753,137 (GRCm39)	V925L	probably benign	Het
Fbll1	G	A	11: 35,688,505 (GRCm39)	H253Y	possibly damaging	Het
Galnt1	A	G	18: 24,404,712 (GRCm39)	T350A	probably benign	Het
Gbp10	T	A	5: 105,372,324 (GRCm39)	E145D	possibly damaging	Het
Gfm1	T	C	3: 67,364,033 (GRCm39)	I503T	probably damaging	Het
Hmcn2	A	T	2: 31,226,624 (GRCm39)	K200*	probably null	Het
Ifi203	T	A	1: 173,757,040 (GRCm39)		probably benign	Het
Itgbl1	T	C	14: 124,204,090 (GRCm39)	F394L	probably damaging	Het
Itpkc	T	A	7: 26,927,029 (GRCm39)	D295V	possibly damaging	Het
Klra17	T	A	6: 129,850,328 (GRCm39)	I41F	probably benign	Het
Lcorl	A	T	5: 45,891,383 (GRCm39)	N323K	possibly damaging	Het
Ltbp2	A	T	12: 84,851,248 (GRCm39)	C836S	probably damaging	Het
Mfsd2b	A	G	12: 4,920,578 (GRCm39)	S80P	probably damaging	Het
Mybbp1a	A	G	11: 72,339,563 (GRCm39)	H882R	possibly damaging	Het
Myh9	G	A	15: 77,651,012 (GRCm39)	R1612C	probably damaging	Het
Myo18a	A	G	11: 77,736,441 (GRCm39)	D1514G	probably damaging	Het
Nsun2	T	C	13: 69,777,757 (GRCm39)	I441T	probably benign	Het
Ntng1	A	T	3: 109,842,007 (GRCm39)	D255E	probably damaging	Het
Or2y1	A	G	11: 49,386,287 (GRCm39)	D309G	possibly damaging	Het
Osbpl2	G	A	2: 179,803,353 (GRCm39)	R475H	probably damaging	Het
Pclo	A	C	5: 14,730,913 (GRCm39)	K3138N	unknown	Het
Pcsk7	A	G	9: 45,838,057 (GRCm39)	T572A	possibly damaging	Het
Pex11a	C	T	7: 79,389,918 (GRCm39)	R56H	possibly damaging	Het
Pnma8b	C	T	7: 16,680,521 (GRCm39)	H502Y	probably benign	Het
Saa4	T	A	7: 46,379,053 (GRCm39)	N96Y	possibly damaging	Het
Serpinb6d	T	A	13: 33,851,663 (GRCm39)	V140E	probably damaging	Het
Srsf4	C	T	4: 131,627,413 (GRCm39)		probably benign	Het
St18	G	A	1: 6,925,697 (GRCm39)		probably null	Het
Taf3	T	C	2: 9,956,469 (GRCm39)	E566G	possibly damaging	Het
Tnr	T	C	1: 159,750,983 (GRCm39)	S1315P	possibly damaging	Het
Trappc11	T	C	8: 47,967,138 (GRCm39)	E412G	probably damaging	Het
Trpc2	G	A	7: 101,733,711 (GRCm39)	S220N	probably damaging	Het
Trpm7	A	G	2: 126,693,441 (GRCm39)	V48A	probably damaging	Het
Tubb6	A	G	18: 67,535,121 (GRCm39)	Y340C	probably damaging	Het
Vmn1r197	C	A	13: 22,512,746 (GRCm39)	Y222*	probably null	Het
Vmn2r97	T	C	17: 19,148,413 (GRCm39)	S103P	probably damaging	Het
Zfp362	C	G	4: 128,680,682 (GRCm39)		probably benign	Het
Zfp423	A	G	8: 88,507,972 (GRCm39)	C666R	probably damaging	Het

Other mutations in Ms4a18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0556:Ms4a18	UTSW	19	10,991,065 (GRCm39)	missense	probably damaging	0.98
R1987:Ms4a18	UTSW	19	10,991,019 (GRCm39)	missense	probably damaging	1.00
R2031:Ms4a18	UTSW	19	10,991,014 (GRCm39)	missense	probably benign	0.06
R2137:Ms4a18	UTSW	19	10,974,695 (GRCm39)	missense	possibly damaging	0.86
R2138:Ms4a18	UTSW	19	10,974,695 (GRCm39)	missense	possibly damaging	0.86
R2139:Ms4a18	UTSW	19	10,974,695 (GRCm39)	missense	possibly damaging	0.86
R2192:Ms4a18	UTSW	19	10,991,029 (GRCm39)	missense	probably benign	0.09
R2211:Ms4a18	UTSW	19	10,974,669 (GRCm39)	missense	probably benign	0.33
R5586:Ms4a18	UTSW	19	10,991,038 (GRCm39)	missense	probably benign	0.00
R6102:Ms4a18	UTSW	19	10,990,887 (GRCm39)	missense	probably benign
R7091:Ms4a18	UTSW	19	10,986,092 (GRCm39)	missense	probably damaging	0.98
R7316:Ms4a18	UTSW	19	10,979,360 (GRCm39)	missense	probably damaging	1.00
R8162:Ms4a18	UTSW	19	10,991,071 (GRCm39)	missense	probably benign	0.00
R8854:Ms4a18	UTSW	19	10,990,887 (GRCm39)	missense	probably benign
R9098:Ms4a18	UTSW	19	10,990,741 (GRCm39)	missense
R9157:Ms4a18	UTSW	19	10,988,804 (GRCm39)	missense	probably damaging	0.98
R9313:Ms4a18	UTSW	19	10,988,804 (GRCm39)	missense	probably damaging	0.98
R9583:Ms4a18	UTSW	19	10,974,714 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGGTCCAAGGGTCTTCTCATTTC -3'
(R):5'- TACAAGCATTTGGAGACCCACG -3'

Sequencing Primer
(F):5'- GTCCAAGGGTCTTCTCATTTCTTTTC -3'
(R):5'- CACTCAGAGATGCTGGTCTAGTC -3'

Posted On

2015-03-18