Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00492:Msantd5f1'

6650

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Msantd5f1

Ensembl Gene

ENSMUSG00000095341

Gene Name

Myb/SANT DNA binding domain containing 5 family member 1

Synonyms

Gm428, LOC242502

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL00492

Quality Score

Status

Chromosome

Chromosomal Location

73601753-73605795 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 73605570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 327 (T327I)

Ref Sequence

ENSEMBL: ENSMUSP00000081515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084475]

AlphaFold

Q3UTE2

Predicted Effect

probably damaging
Transcript: ENSMUST00000084475
AA Change: T327I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000081515
Gene: ENSMUSG00000095341
AA Change: T327I

Domain	Start	End	E-Value	Type
low complexity region	69	84	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene belongs to a family of related genes tandemly arranged in two clusters on chromosome 4. This family, which appears to be mouse-specific and composed of multiple highly similar members, is supported by limited transcript data. Members of the family maintain an intact open reading frame although the encoded protein has no known function. This gene is supported by alignment of transcripts. [provided by RefSeq, Apr 2013]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap29	G	T	3: 121,796,961 (GRCm39)	E108*	probably null	Het
Braf	A	T	6: 39,637,933 (GRCm39)		probably null	Het
Calr3	G	A	8: 73,185,240 (GRCm39)	Q112*	probably null	Het
Dis3	A	G	14: 99,320,110 (GRCm39)	I649T	probably damaging	Het
Dop1b	T	C	16: 93,577,670 (GRCm39)	V65A	probably benign	Het
Dpp4	A	G	2: 62,209,646 (GRCm39)	Y126H	probably damaging	Het
Dtwd2	A	T	18: 49,856,776 (GRCm39)	Y170*	probably null	Het
Efcab7	A	G	4: 99,719,700 (GRCm39)	T61A	probably benign	Het
Fbxl3	G	T	14: 103,332,730 (GRCm39)	L83M	probably damaging	Het
Fbxo17	A	C	7: 28,434,766 (GRCm39)	S184R	probably damaging	Het
Fcf1	T	C	12: 85,029,106 (GRCm39)		probably null	Het
Hcrtr2	T	C	9: 76,153,723 (GRCm39)	Y223C	probably damaging	Het
Kcnn1	A	G	8: 71,300,706 (GRCm39)	F432S	probably benign	Het
Kmt2a	C	T	9: 44,719,231 (GRCm39)		probably benign	Het
Lce1j	T	C	3: 92,696,713 (GRCm39)	T22A	unknown	Het
Lrfn5	T	A	12: 61,890,912 (GRCm39)	S734T	probably benign	Het
Lyst	T	A	13: 13,852,760 (GRCm39)	S2253R	possibly damaging	Het
Myrfl	G	A	10: 116,632,011 (GRCm39)	L645F	possibly damaging	Het
Nudt9	A	G	5: 104,209,628 (GRCm39)		probably benign	Het
Ostn	T	A	16: 27,140,132 (GRCm39)	M15K	possibly damaging	Het
Psg20	T	C	7: 18,408,536 (GRCm39)	T395A	possibly damaging	Het
Rpf1	G	A	3: 146,218,002 (GRCm39)	H171Y	probably benign	Het
Shprh	A	G	10: 11,063,902 (GRCm39)	E1325G	probably damaging	Het
Slc22a8	G	T	19: 8,571,499 (GRCm39)	V77L	probably benign	Het
Tbck	A	C	3: 132,428,501 (GRCm39)	K285N	probably benign	Het
Vmn1r86	C	T	7: 12,836,468 (GRCm39)	C86Y	possibly damaging	Het
Zdhhc20	A	G	14: 58,111,381 (GRCm39)	I73T	probably damaging	Het
Zfp512b	T	C	2: 181,228,862 (GRCm39)	D701G	probably damaging	Het
Zfp735	T	A	11: 73,602,192 (GRCm39)	Y379N	possibly damaging	Het
Znfx1	G	T	2: 166,878,843 (GRCm39)	H980Q	probably damaging	Het

Other mutations in Msantd5f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00920:Msantd5f1	APN	4	73,605,679 (GRCm39)	utr 3 prime	probably benign
IGL02931:Msantd5f1	APN	4	73,605,602 (GRCm39)	missense	probably damaging	0.99
R1651:Msantd5f1	UTSW	4	73,605,621 (GRCm39)	missense	possibly damaging	0.75
R6862:Msantd5f1	UTSW	4	73,605,621 (GRCm39)	missense	probably benign	0.21
R8205:Msantd5f1	UTSW	4	73,605,542 (GRCm39)	missense	possibly damaging	0.79
R8338:Msantd5f1	UTSW	4	73,605,435 (GRCm39)	missense	possibly damaging	0.86

Posted On

2012-04-20