Mutagenetix > Incidental Mutation

Incidental Mutation 'R3819:Msantd4'

274820

Institutional Source

Beutler Lab

Gene Symbol

Msantd4

Ensembl Gene

ENSMUSG00000041124

Gene Name

Myb/SANT-like DNA-binding domain containing 4 with coiled-coils

Synonyms

8430410K20Rik

MMRRC Submission

040773-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.211) question?

Stock #

R3819 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4376562-4386870 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4385237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 321 (K321E)

Ref Sequence

ENSEMBL: ENSMUSP00000148805 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047173] [ENSMUST00000212075]

AlphaFold

Q91YU3

Predicted Effect

probably damaging
Transcript: ENSMUST00000047173
AA Change: K321E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038267
Gene: ENSMUSG00000041124
AA Change: K321E

Domain	Start	End	E-Value	Type
Pfam:Myb_DNA-bind_5	8	86	7.6e-26	PFAM
low complexity region	154	162	N/A	INTRINSIC
coiled coil region	202	344	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000212075
AA Change: K321E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Meta Mutation Damage Score

0.0710

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,936,024 (GRCm39)		probably benign	Het
Atp1b1	C	T	1: 164,270,874 (GRCm39)	R35H	probably benign	Het
Barx1	T	C	13: 48,818,960 (GRCm39)	I200T	possibly damaging	Het
Coil	T	C	11: 88,872,619 (GRCm39)	F380L	probably benign	Het
Csmd1	C	T	8: 16,052,522 (GRCm39)	A2201T	probably damaging	Het
Dab2ip	T	C	2: 35,603,222 (GRCm39)	C417R	probably damaging	Het
Dhx57	A	G	17: 80,572,503 (GRCm39)		probably null	Het
Gabrg3	G	A	7: 57,031,412 (GRCm39)	Q43*	probably null	Het
Gbp7	C	A	3: 142,249,826 (GRCm39)	H432Q	possibly damaging	Het
Gjb2	A	G	14: 57,337,530 (GRCm39)	V226A	probably benign	Het
Gsdme	A	C	6: 50,196,391 (GRCm39)	S340A	probably benign	Het
Hivep2	T	C	10: 14,019,685 (GRCm39)	V2152A	possibly damaging	Het
Hjurp	G	C	1: 88,204,937 (GRCm39)		probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Krt34	T	C	11: 99,930,844 (GRCm39)	E186G	probably damaging	Het
Ly9	G	T	1: 171,416,653 (GRCm39)	T537N	possibly damaging	Het
Or5ac22	A	G	16: 59,135,434 (GRCm39)	F112S	probably damaging	Het
Or5p59	A	G	7: 107,702,705 (GRCm39)	Y63C	possibly damaging	Het
Or8b12c	C	T	9: 37,715,465 (GRCm39)	S86L	probably benign	Het
Or8b40	A	T	9: 38,027,922 (GRCm39)	T277S	possibly damaging	Het
Or8b55	A	G	9: 38,727,722 (GRCm39)	K308E	possibly damaging	Het
Paxbp1	A	C	16: 90,819,640 (GRCm39)		probably benign	Het
Plcl1	T	A	1: 55,735,758 (GRCm39)	D366E	probably benign	Het
Pramel22	T	A	4: 143,382,365 (GRCm39)	E110D	probably benign	Het
Prdm5	T	C	6: 65,913,041 (GRCm39)	F391L	possibly damaging	Het
Rasef	C	G	4: 73,677,942 (GRCm39)	D95H	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Skint3	A	T	4: 112,113,085 (GRCm39)	I232F	possibly damaging	Het
Slc43a3	T	C	2: 84,774,896 (GRCm39)	I158T	probably damaging	Het
Smad1	G	A	8: 80,070,359 (GRCm39)	A393V	probably benign	Het
Sorl1	A	G	9: 41,975,345 (GRCm39)	L487P	possibly damaging	Het
Sspo	A	T	6: 48,458,037 (GRCm39)	E3269V	possibly damaging	Het
Stat3	C	T	11: 100,789,459 (GRCm39)	S377N	probably damaging	Het
Tbpl2	A	G	2: 23,966,024 (GRCm39)	V321A	probably damaging	Het
Tnfrsf11a	C	T	1: 105,737,085 (GRCm39)	T64I	probably damaging	Het
Ttn	T	C	2: 76,729,047 (GRCm39)		probably benign	Het
Wdr37	A	G	13: 8,903,632 (GRCm39)		probably benign	Het
Xdh	A	T	17: 74,213,720 (GRCm39)	I811K	probably benign	Het

Other mutations in Msantd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02021:Msantd4	APN	9	4,385,163 (GRCm39)	missense	probably damaging	1.00
IGL02347:Msantd4	APN	9	4,384,734 (GRCm39)	splice site	probably benign
IGL02947:Msantd4	APN	9	4,384,787 (GRCm39)	missense	probably damaging	0.97
IGL02949:Msantd4	APN	9	4,385,196 (GRCm39)	missense	probably damaging	1.00
FR4548:Msantd4	UTSW	9	4,384,937 (GRCm39)	missense	possibly damaging	0.50
FR4976:Msantd4	UTSW	9	4,384,937 (GRCm39)	missense	possibly damaging	0.50
R0006:Msantd4	UTSW	9	4,384,099 (GRCm39)	missense	probably damaging	1.00
R0436:Msantd4	UTSW	9	4,385,180 (GRCm39)	missense	probably damaging	0.98
R1403:Msantd4	UTSW	9	4,384,023 (GRCm39)	missense	probably benign	0.19
R1403:Msantd4	UTSW	9	4,384,023 (GRCm39)	missense	probably benign	0.19
R1512:Msantd4	UTSW	9	4,384,138 (GRCm39)	missense	probably benign	0.02
R1639:Msantd4	UTSW	9	4,385,199 (GRCm39)	missense	probably damaging	1.00
R6021:Msantd4	UTSW	9	4,384,063 (GRCm39)	missense	probably benign	0.34
R6982:Msantd4	UTSW	9	4,384,061 (GRCm39)	missense	possibly damaging	0.79
R8166:Msantd4	UTSW	9	4,384,095 (GRCm39)	missense	possibly damaging	0.95
R8753:Msantd4	UTSW	9	4,385,013 (GRCm39)	missense	probably damaging	0.99
R9510:Msantd4	UTSW	9	4,385,007 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCGCTTACAGCTGGAGAAG -3'
(R):5'- ACACTGACATTAAACAGGGGTG -3'

Sequencing Primer
(F):5'- CTTACAGCTGGAGAAGGAGAGGC -3'
(R):5'- GGTGATGGGGTAGCTAATCCAG -3'

Posted On

2015-04-02