Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00514:Ms4a4c'

5685

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ms4a4c

Ensembl Gene

ENSMUSG00000024675

Gene Name

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

Synonyms

5830413L19Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL00514

Quality Score

Status

Chromosome

Chromosomal Location

11382134-11404610 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 11396400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 111 (A111V)

Ref Sequence

ENSEMBL: ENSMUSP00000113130 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072729] [ENSMUST00000119366] [ENSMUST00000153546]

AlphaFold

Q9D3F6

Predicted Effect

probably damaging
Transcript: ENSMUST00000072729
AA Change: A119V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072512
Gene: ENSMUSG00000024675
AA Change: A119V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000119366
AA Change: A111V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113130
Gene: ENSMUSG00000024675
AA Change: A111V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153546

SMART Domains

Protein: ENSMUSP00000118694
Gene: ENSMUSG00000024675

Domain	Start	End	E-Value	Type
transmembrane domain	43	65	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,432,141 (GRCm39)	E75G	unknown	Het
Ank3	T	C	10: 69,818,035 (GRCm39)		probably benign	Het
Aplf	A	G	6: 87,645,390 (GRCm39)		probably benign	Het
Baz2b	A	T	2: 59,792,821 (GRCm39)	F436I	probably benign	Het
Blmh	A	G	11: 76,857,839 (GRCm39)	D327G	probably damaging	Het
Bmt2	A	T	6: 13,628,752 (GRCm39)	H310Q	probably damaging	Het
Cfap46	C	T	7: 139,240,605 (GRCm39)	S56N	probably damaging	Het
Col19a1	T	C	1: 24,576,013 (GRCm39)	K110E	unknown	Het
Cyp2c68	T	C	19: 39,700,939 (GRCm39)	D293G	probably damaging	Het
Ears2	T	A	7: 121,638,985 (GRCm39)	K480*	probably null	Het
Efhc1	C	T	1: 21,049,705 (GRCm39)	Q522*	probably null	Het
Ehd4	G	A	2: 119,921,694 (GRCm39)	P521S	probably damaging	Het
Endov	G	T	11: 119,382,291 (GRCm39)		probably benign	Het
Fgfr2	T	G	7: 129,769,441 (GRCm39)	T648P	probably benign	Het
Hsf5	A	G	11: 87,513,922 (GRCm39)	Y329C	probably damaging	Het
Kntc1	T	A	5: 123,929,590 (GRCm39)	S1308T	probably benign	Het
Mill1	A	T	7: 17,998,566 (GRCm39)	T259S	possibly damaging	Het
Myh1	G	T	11: 67,110,610 (GRCm39)	R1507M	probably damaging	Het
Nbeal1	G	A	1: 60,256,384 (GRCm39)	D210N	probably benign	Het
Neo1	G	T	9: 58,829,202 (GRCm39)		probably benign	Het
Nipsnap2	A	G	5: 129,831,915 (GRCm39)	D236G	probably damaging	Het
Plekhh2	G	T	17: 84,903,734 (GRCm39)		probably null	Het
Prox2	A	T	12: 85,141,552 (GRCm39)	M217K	probably benign	Het
Rgl2	G	A	17: 34,152,110 (GRCm39)	G299E	probably benign	Het
Rragb	T	G	X: 151,954,294 (GRCm39)	C370W	possibly damaging	Het
Scn9a	A	T	2: 66,393,945 (GRCm39)	N209K	probably damaging	Het
Sec61g	A	T	11: 16,451,817 (GRCm39)		probably benign	Het
Slc38a7	A	G	8: 96,567,105 (GRCm39)		probably benign	Het
Smcr8	A	T	11: 60,669,193 (GRCm39)	K114*	probably null	Het
Stag3	T	C	5: 138,298,397 (GRCm39)	L730P	probably damaging	Het
Syn3	A	G	10: 86,190,280 (GRCm39)	L183P	probably damaging	Het
Tbk1	A	T	10: 121,388,155 (GRCm39)	C637S	probably benign	Het
Tmem30c	A	T	16: 57,090,437 (GRCm39)	Y257N	probably damaging	Het
Trpm3	C	T	19: 22,965,023 (GRCm39)	T1506M	probably benign	Het
Yes1	A	C	5: 32,812,473 (GRCm39)	K248Q	probably benign	Het
Zfp638	A	T	6: 83,933,680 (GRCm39)	K811N	probably damaging	Het

Other mutations in Ms4a4c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00687:Ms4a4c	APN	19	11,398,682 (GRCm39)	missense	possibly damaging	0.94
IGL01142:Ms4a4c	APN	19	11,403,614 (GRCm39)	missense	probably benign
IGL03128:Ms4a4c	APN	19	11,395,005 (GRCm39)	critical splice acceptor site	probably null
IGL02980:Ms4a4c	UTSW	19	11,393,747 (GRCm39)	missense	probably benign	0.01
R0012:Ms4a4c	UTSW	19	11,396,344 (GRCm39)	unclassified	probably benign
R3852:Ms4a4c	UTSW	19	11,393,759 (GRCm39)	missense	probably benign	0.32
R4421:Ms4a4c	UTSW	19	11,393,739 (GRCm39)	missense	probably damaging	1.00
R5209:Ms4a4c	UTSW	19	11,393,802 (GRCm39)	missense	probably damaging	1.00
R6183:Ms4a4c	UTSW	19	11,403,593 (GRCm39)	missense	possibly damaging	0.59
R6439:Ms4a4c	UTSW	19	11,398,676 (GRCm39)	missense	probably benign	0.00
R6967:Ms4a4c	UTSW	19	11,392,191 (GRCm39)	missense	probably benign
R8552:Ms4a4c	UTSW	19	11,392,196 (GRCm39)	nonsense	probably null
R9006:Ms4a4c	UTSW	19	11,396,360 (GRCm39)	missense	probably benign	0.43
R9448:Ms4a4c	UTSW	19	11,392,317 (GRCm39)	critical splice donor site	probably null
Z1177:Ms4a4c	UTSW	19	11,398,673 (GRCm39)	missense	probably benign	0.22

Posted On

2012-04-20