Mutagenetix > Incidental Mutation

Incidental Mutation 'R8033:Msantd5f6'

618074

Institutional Source

Beutler Lab

Gene Symbol

Msantd5f6

Ensembl Gene

ENSMUSG00000066137

Gene Name

Myb/SANT DNA binding domain containing 5 family member 6

Synonyms

Gm11487

MMRRC Submission

067470-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R8033 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73319269-73323309 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73321329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 143 (N143D)

Ref Sequence

ENSEMBL: ENSMUSP00000081520 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084480]

AlphaFold

Q5RIS0

Predicted Effect

probably benign
Transcript: ENSMUST00000084480
AA Change: N143D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000081520
Gene: ENSMUSG00000066137
AA Change: N143D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000147434

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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 inferred from alignment of paralogous transcripts. [provided by RefSeq, Apr 2013]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,927,348 (GRCm39)	I1335K	probably damaging	Het
Adgrb2	A	G	4: 129,912,805 (GRCm39)	E1277G	probably benign	Het
Agbl3	A	G	6: 34,816,429 (GRCm39)	T785A	possibly damaging	Het
Ahnak	T	C	19: 8,981,074 (GRCm39)	V786A	probably benign	Het
Armc2	A	G	10: 41,884,680 (GRCm39)	I87T	possibly damaging	Het
Asap2	T	C	12: 21,274,390 (GRCm39)	S373P	probably damaging	Het
Casd1	A	T	6: 4,619,773 (GRCm39)	I173F	probably benign	Het
Chd2	A	G	7: 73,085,628 (GRCm39)	Y1669H	probably damaging	Het
Clic3	A	G	2: 25,348,617 (GRCm39)	E199G	probably benign	Het
Cpa4	G	A	6: 30,590,799 (GRCm39)	V366I	probably benign	Het
Creg2	T	C	1: 39,689,795 (GRCm39)	Y105C	probably damaging	Het
Cyp20a1	T	C	1: 60,411,750 (GRCm39)	I266T	probably benign	Het
Dido1	T	C	2: 180,316,635 (GRCm39)	D685G	probably damaging	Het
Dop1b	C	G	16: 93,566,371 (GRCm39)	R1051G	probably benign	Het
Fam114a2	A	G	11: 57,398,333 (GRCm39)	S202P	probably damaging	Het
Fance	G	T	17: 28,532,659 (GRCm39)		probably benign	Het
Farsa	T	A	8: 85,594,198 (GRCm39)	L316Q	probably benign	Het
Fcrl6	T	C	1: 172,426,748 (GRCm39)	D66G	probably benign	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gh	A	T	11: 106,191,381 (GRCm39)	D154E	probably benign	Het
Kmt2a	A	T	9: 44,756,767 (GRCm39)	V1160E	probably damaging	Het
Lct	T	C	1: 128,212,996 (GRCm39)	T1886A	probably benign	Het
Lrwd1	G	A	5: 136,152,079 (GRCm39)	L633F	probably damaging	Het
Mmp15	A	T	8: 96,094,590 (GRCm39)	N155Y	probably benign	Het
Mtf2	T	G	5: 108,234,951 (GRCm39)	C125G	probably damaging	Het
Muc16	A	T	9: 18,547,902 (GRCm39)	D6130E	probably benign	Het
Or5m9b	T	A	2: 85,905,219 (GRCm39)	I45N	possibly damaging	Het
Orc1	T	A	4: 108,462,761 (GRCm39)	Y613N	probably damaging	Het
Pak1	A	G	7: 97,535,590 (GRCm39)	N227S	probably benign	Het
Pex3	G	A	10: 13,407,024 (GRCm39)	Q306*	probably null	Het
Pld1	A	T	3: 28,083,359 (GRCm39)	M160L	probably benign	Het
Plekhh1	G	A	12: 79,117,710 (GRCm39)	R902H	probably benign	Het
Prp2	A	G	6: 132,577,391 (GRCm39)	H226R	unknown	Het
Rad21	T	G	15: 51,827,628 (GRCm39)	T578P	probably damaging	Het
Sp140	G	A	1: 85,547,815 (GRCm39)	V181I	probably benign	Het
Spen	A	G	4: 141,199,057 (GRCm39)	V3190A	probably benign	Het
Spg11	A	C	2: 121,917,432 (GRCm39)	C1011W	probably damaging	Het
Syngr3	G	A	17: 24,905,579 (GRCm39)	R132*	probably null	Het
Tbc1d10c	A	G	19: 4,238,013 (GRCm39)	F254L	possibly damaging	Het
Tcea1	T	A	1: 4,962,141 (GRCm39)	I176K	probably damaging	Het
Timm50	G	A	7: 28,006,258 (GRCm39)	A281V	possibly damaging	Het
Tmem144	C	T	3: 79,732,624 (GRCm39)	R218K	probably benign	Het
Upp2	A	G	2: 58,670,071 (GRCm39)	Y259C	probably damaging	Het
Vcan	A	G	13: 89,852,479 (GRCm39)	V827A	probably benign	Het
Vps41	T	A	13: 18,994,635 (GRCm39)	W161R	possibly damaging	Het
Zfp994	A	T	17: 22,419,665 (GRCm39)	I428N	probably damaging	Het

Other mutations in Msantd5f6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02373:Msantd5f6	APN	4	73,321,880 (GRCm39)	missense	probably benign	0.01
IGL03275:Msantd5f6	APN	4	73,321,653 (GRCm39)	missense	possibly damaging	0.80
R1066:Msantd5f6	UTSW	4	73,320,066 (GRCm39)	missense	possibly damaging	0.46
R1274:Msantd5f6	UTSW	4	73,321,313 (GRCm39)	missense	probably damaging	0.97
R1742:Msantd5f6	UTSW	4	73,319,447 (GRCm39)	missense	probably damaging	1.00
R1863:Msantd5f6	UTSW	4	73,320,037 (GRCm39)	nonsense	probably null
R1903:Msantd5f6	UTSW	4	73,321,675 (GRCm39)	missense	probably damaging	0.98
R2027:Msantd5f6	UTSW	4	73,321,295 (GRCm39)	missense	possibly damaging	0.46
R4011:Msantd5f6	UTSW	4	73,320,047 (GRCm39)	missense	probably damaging	0.97
R4801:Msantd5f6	UTSW	4	73,319,504 (GRCm39)	nonsense	probably null
R4802:Msantd5f6	UTSW	4	73,319,504 (GRCm39)	nonsense	probably null
R5213:Msantd5f6	UTSW	4	73,319,571 (GRCm39)	missense	probably damaging	0.96
R5334:Msantd5f6	UTSW	4	73,321,754 (GRCm39)	missense	probably benign	0.31
R5345:Msantd5f6	UTSW	4	73,319,514 (GRCm39)	missense	probably damaging	1.00
R6093:Msantd5f6	UTSW	4	73,320,258 (GRCm39)	missense	probably benign	0.05
R6786:Msantd5f6	UTSW	4	73,321,843 (GRCm39)	missense	possibly damaging	0.86
R8093:Msantd5f6	UTSW	4	73,321,759 (GRCm39)	missense	probably damaging	0.98
R8877:Msantd5f6	UTSW	4	73,322,468 (GRCm39)	nonsense	probably null
R8975:Msantd5f6	UTSW	4	73,320,167 (GRCm39)	missense	probably damaging	0.97
R9191:Msantd5f6	UTSW	4	73,319,670 (GRCm39)	missense	probably damaging	0.96
R9230:Msantd5f6	UTSW	4	73,319,685 (GRCm39)	missense	probably benign	0.05
R9338:Msantd5f6	UTSW	4	73,320,245 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- TGGGAGTTCCAATCCTTCCAAC -3'
(R):5'- GCTGCAAGTCCTTTTCCCATAGG -3'

Sequencing Primer
(F):5'- TCCTTCCAACAGGAAATCAGAATTTC -3'
(R):5'- GCTGCTCTGTGTGTCAAAC -3'

Posted On

2020-01-23