Mutagenetix > Incidental Mutations

Incidental Mutation 'R6183:Ms4a4c'

487650

Institutional Source

Beutler Lab

Gene Symbol

Ms4a4c

Ensembl Gene

ENSMUSG00000024675

Gene Name

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

Synonyms

5830413L19Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R6183 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11404770-11427246 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11426229 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 192 (T192A)

Ref Sequence

ENSEMBL: ENSMUSP00000072512 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072729] [ENSMUST00000119366]

AlphaFold

Q9D3F6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072729
AA Change: T192A

PolyPhen 2 Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000072512
Gene: ENSMUSG00000024675
AA Change: T192A

Domain	Start	End	E-Value	Type
Pfam:CD20	43	142	1.7e-20	PFAM
transmembrane domain	147	169	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119366
AA Change: T150A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000113130
Gene: ENSMUSG00000024675
AA Change: T150A

Domain	Start	End	E-Value	Type
Pfam:CD20	35	179	3.9e-30	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548H24Rik	T	C	5: 31,487,976	Y358H	probably damaging	Het
5830411N06Rik	A	G	7: 140,296,034	T404A	possibly damaging	Het
Abcb4	T	A	5: 8,918,718	D352E	probably benign	Het
Adgrb3	T	A	1: 25,094,370	I972L	probably damaging	Het
Alg3	T	C	16: 20,610,641	Y33C	probably benign	Het
Atp1a3	C	T	7: 24,981,752	G816D	probably damaging	Het
Ces1g	C	T	8: 93,331,239	V145M	possibly damaging	Het
Clip1	A	G	5: 123,642,604	S339P	probably damaging	Het
Col2a1	G	T	15: 97,988,790	T378N	unknown	Het
Dennd4b	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAGCAG	3: 90,275,568		probably benign	Het
Dnah12	T	A	14: 26,861,769	L3207Q	probably damaging	Het
Efcab5	T	C	11: 77,137,258	T416A	probably benign	Het
Ephb1	A	T	9: 102,195,325	I85N	probably damaging	Het
Etnppl	T	C	3: 130,620,317	C22R	probably damaging	Het
F830016B08Rik	A	G	18: 60,299,877	T11A	probably benign	Het
Gm5458	C	A	14: 19,599,644	V171L	probably damaging	Het
Helb	G	T	10: 120,112,998		probably null	Het
Hnrnpll	A	G	17: 80,049,876	V237A	possibly damaging	Het
Hps3	T	C	3: 20,008,868	T712A	probably benign	Het
Ibsp	A	G	5: 104,306,030	E78G	possibly damaging	Het
Ighv1-62-2	G	A	12: 115,446,436	A111V	probably damaging	Het
Igkv4-63	G	T	6: 69,378,124	Q58K	probably damaging	Het
Iqcg	T	C	16: 33,030,923	Y226C	probably damaging	Het
Khdc1a	A	T	1: 21,350,108	D30V	possibly damaging	Het
Krtap5-5	C	A	7: 142,229,787	C42F	unknown	Het
Lmod3	T	C	6: 97,252,553	N7D	probably damaging	Het
Lvrn	A	G	18: 46,850,685	N165S	probably benign	Het
Ncald	A	T	15: 37,397,232	V68D	probably damaging	Het
Olfr1507	T	A	14: 52,490,731	T78S	probably benign	Het
Pcdhgb7	A	T	18: 37,752,262	I162F	probably damaging	Het
Prokr1	T	C	6: 87,588,852	T4A	possibly damaging	Het
Qrich2	T	A	11: 116,458,129		probably benign	Het
Rgl1	C	T	1: 152,586,570	E60K	possibly damaging	Het
Rtn1	A	T	12: 72,408,491	W21R	probably benign	Het
Spast	A	G	17: 74,373,358	I438M	probably damaging	Het
Sptbn5	C	T	2: 120,059,417		probably benign	Het
Sry	C	G	Y: 2,662,975	Q228H	unknown	Het
Tas1r1	A	G	4: 152,032,541	I212T	probably damaging	Het
Tbc1d1	A	G	5: 64,275,425	N439D	probably damaging	Het
Tjp2	C	T	19: 24,100,791	A913T	probably damaging	Het
Tnfrsf26	A	G	7: 143,611,757	L47P	probably damaging	Het
Unc13a	A	T	8: 71,644,666	S1195T	probably damaging	Het
Usp54	T	C	14: 20,552,245	R1346G	probably damaging	Het
Vmn1r54	T	A	6: 90,269,290	M62K	possibly damaging	Het
Vmn2r125	A	T	4: 156,350,069	D50V	probably damaging	Het
Vmn2r66	T	C	7: 84,995,558	D548G	possibly damaging	Het
Vmn2r95	T	A	17: 18,443,930	N470K	probably damaging	Het
Zc3h7a	A	T	16: 11,147,370	I633N	possibly damaging	Het

Other mutations in Ms4a4c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Ms4a4c	APN	19	11419036	missense	probably damaging	1.00
IGL00687:Ms4a4c	APN	19	11421318	missense	possibly damaging	0.94
IGL01142:Ms4a4c	APN	19	11426250	missense	probably benign
IGL03128:Ms4a4c	APN	19	11417641	critical splice acceptor site	probably null
IGL02980:Ms4a4c	UTSW	19	11416383	missense	probably benign	0.01
R0012:Ms4a4c	UTSW	19	11418980	unclassified	probably benign
R3852:Ms4a4c	UTSW	19	11416395	missense	probably benign	0.32
R4421:Ms4a4c	UTSW	19	11416375	missense	probably damaging	1.00
R5209:Ms4a4c	UTSW	19	11416438	missense	probably damaging	1.00
R6439:Ms4a4c	UTSW	19	11421312	missense	probably benign	0.00
R6967:Ms4a4c	UTSW	19	11414827	missense	probably benign
R8552:Ms4a4c	UTSW	19	11414832	nonsense	probably null
R9006:Ms4a4c	UTSW	19	11418996	missense	probably benign	0.43
Z1177:Ms4a4c	UTSW	19	11421309	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- ATGATCCTGAAGTGGCCCAG -3'
(R):5'- TGGCATGTCTGATATTCCCC -3'

Sequencing Primer
(F):5'- GACACCACTCAGTGCGATGTTTG -3'
(R):5'- CCAGGGCAATGAAGTGTTAATTTCCC -3'

Posted On

2017-10-10