Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00951:Ms4a4d'

29526

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ms4a4d

Ensembl Gene

ENSMUSG00000024678

Gene Name

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

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL00951

Quality Score

Status

Chromosome

Chromosomal Location

11514165-11535831 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11532285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 144 (I144F)

Ref Sequence

ENSEMBL: ENSMUSP00000025581 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025581]

AlphaFold

Q99N05

Predicted Effect

probably benign
Transcript: ENSMUST00000025581
AA Change: I144F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000025581
Gene: ENSMUSG00000024678
AA Change: I144F

Domain	Start	End	E-Value	Type
Pfam:CD20	43	141	1.5e-18	PFAM
transmembrane domain	146	168	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armc8	C	A	9: 99,387,757 (GRCm39)	R388L	probably benign	Het
Bcan	T	C	3: 87,901,481 (GRCm39)	E407G	probably damaging	Het
Brms1l	A	G	12: 55,912,834 (GRCm39)	I276V	possibly damaging	Het
Brpf1	C	A	6: 113,299,514 (GRCm39)	D1182E	probably damaging	Het
Clpb	A	G	7: 101,400,467 (GRCm39)	M268V	probably benign	Het
Cpne8	A	T	15: 90,486,096 (GRCm39)		probably benign	Het
Ddx25	A	T	9: 35,464,131 (GRCm39)		probably null	Het
Dgki	A	G	6: 36,977,094 (GRCm39)	M672T	probably damaging	Het
Fhdc1	T	C	3: 84,371,620 (GRCm39)	T112A	possibly damaging	Het
Galnt7	A	T	8: 58,036,858 (GRCm39)	M177K	probably damaging	Het
Gucy1a1	T	C	3: 82,018,498 (GRCm39)	D113G	probably benign	Het
Hp	T	C	8: 110,304,129 (GRCm39)	D24G	possibly damaging	Het
Jak2	A	G	19: 29,276,983 (GRCm39)	R847G	probably damaging	Het
Lama2	A	T	10: 26,906,281 (GRCm39)	D2391E	probably benign	Het
Mpzl1	A	G	1: 165,433,391 (GRCm39)	F87L	probably damaging	Het
Or5h18	G	A	16: 58,848,216 (GRCm39)	T18I	probably benign	Het
Or5h23	A	C	16: 58,906,756 (GRCm39)	L30R	possibly damaging	Het
Or5i1	A	T	2: 87,612,883 (GRCm39)	I2F	probably benign	Het
Or6c219	A	G	10: 129,781,581 (GRCm39)	S2P	probably damaging	Het
Or6d14	G	A	6: 116,534,027 (GRCm39)	V214I	probably benign	Het
Prr16	A	G	18: 51,436,411 (GRCm39)	R297G	probably damaging	Het
Ralgps1	A	C	2: 33,163,614 (GRCm39)	L148V	probably damaging	Het
Rara	A	G	11: 98,858,992 (GRCm39)	D150G	probably benign	Het
Rb1	A	T	14: 73,559,512 (GRCm39)	V64D	probably damaging	Het
Ros1	A	G	10: 52,019,348 (GRCm39)	Y742H	probably damaging	Het
Rpl7a	A	G	2: 26,802,441 (GRCm39)	D160G	possibly damaging	Het
Sdccag8	A	G	1: 176,705,568 (GRCm39)	M461V	possibly damaging	Het
Tagln	T	A	9: 45,842,170 (GRCm39)	N141I	probably benign	Het
Tas2r140	A	T	6: 40,468,913 (GRCm39)	R248*	probably null	Het
Ube2j2	C	T	4: 156,030,834 (GRCm39)		probably benign	Het
Ulk1	A	G	5: 110,940,270 (GRCm39)	C384R	possibly damaging	Het
Ush2a	A	T	1: 187,995,662 (GRCm39)	E144D	probably benign	Het
Vkorc1l1	C	T	5: 130,011,108 (GRCm39)	T144I	probably benign	Het
Zfp235	T	C	7: 23,836,505 (GRCm39)	F17S	probably damaging	Het

Other mutations in Ms4a4d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00718:Ms4a4d	APN	19	11,535,335 (GRCm39)	missense	probably damaging	0.99
IGL02627:Ms4a4d	APN	19	11,525,987 (GRCm39)	missense	probably damaging	1.00
IGL02806:Ms4a4d	APN	19	11,533,610 (GRCm39)	missense	possibly damaging	0.65
IGL02868:Ms4a4d	APN	19	11,527,646 (GRCm39)	missense	probably damaging	1.00
R0010:Ms4a4d	UTSW	19	11,532,190 (GRCm39)	missense	probably damaging	1.00
R1134:Ms4a4d	UTSW	19	11,535,298 (GRCm39)	missense	possibly damaging	0.49
R4932:Ms4a4d	UTSW	19	11,535,296 (GRCm39)	missense	probably benign	0.05
R5169:Ms4a4d	UTSW	19	11,535,340 (GRCm39)	missense	possibly damaging	0.80
R5390:Ms4a4d	UTSW	19	11,526,004 (GRCm39)	critical splice donor site	probably null
R6581:Ms4a4d	UTSW	19	11,532,204 (GRCm39)	missense	probably damaging	0.99
R7014:Ms4a4d	UTSW	19	11,525,947 (GRCm39)	missense	probably benign	0.17
R7429:Ms4a4d	UTSW	19	11,535,297 (GRCm39)	missense	probably benign	0.38
R7430:Ms4a4d	UTSW	19	11,535,297 (GRCm39)	missense	probably benign	0.38
R8132:Ms4a4d	UTSW	19	11,535,310 (GRCm39)	missense	probably benign	0.02
R8872:Ms4a4d	UTSW	19	11,530,251 (GRCm39)	missense	possibly damaging	0.63
R8927:Ms4a4d	UTSW	19	11,533,574 (GRCm39)	missense	probably benign	0.11
R8928:Ms4a4d	UTSW	19	11,533,574 (GRCm39)	missense	probably benign	0.11
R9005:Ms4a4d	UTSW	19	11,533,564 (GRCm39)	missense	possibly damaging	0.50

Posted On

2013-04-17