Mutagenetix > Incidental Mutation

Incidental Mutation 'R9265:Msantd1'

702475

Institutional Source

Beutler Lab

Gene Symbol

Msantd1

Ensembl Gene

ENSMUSG00000051246

Gene Name

Myb/SANT-like DNA-binding domain containing 1

Synonyms

A930005I04Rik, LOC231132

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9265 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35071581-35084333 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 35080861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 264 (R264*)

Ref Sequence

ENSEMBL: ENSMUSP00000057362 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050535] [ENSMUST00000202205] [ENSMUST00000212362]

AlphaFold

Q8BIL2

Predicted Effect

probably null
Transcript: ENSMUST00000050535
AA Change: R264*

SMART Domains

Protein: ENSMUSP00000057362
Gene: ENSMUSG00000051246
AA Change: R264*

Domain	Start	End	E-Value	Type
Pfam:Myb_DNA-bind_4	43	131	1.1e-14	PFAM
low complexity region	183	203	N/A	INTRINSIC
coiled coil region	215	246	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000202205
AA Change: R172*

SMART Domains

Protein: ENSMUSP00000144008
Gene: ENSMUSG00000051246
AA Change: R172*

Domain	Start	End	E-Value	Type
Pfam:Myb_DNA-bind_4	43	129	9.4e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000212362
AA Change: R251*

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3a2	T	C	11: 61,153,094 (GRCm39)	K211E	probably damaging	Het
Apba2	G	T	7: 64,393,020 (GRCm39)	A514S	probably damaging	Het
Aspm	C	T	1: 139,389,182 (GRCm39)	T615I	probably benign	Het
Atrnl1	T	A	19: 57,766,359 (GRCm39)	F1232Y	probably benign	Het
B4galt3	A	G	1: 171,101,617 (GRCm39)	D197G	probably damaging	Het
Calcrl	T	G	2: 84,200,400 (GRCm39)	N127H	possibly damaging	Het
Camkv	T	G	9: 107,825,262 (GRCm39)	I421S	possibly damaging	Het
Cdc123	T	C	2: 5,808,765 (GRCm39)	D237G	possibly damaging	Het
Cilp	A	G	9: 65,187,333 (GRCm39)	T1143A	probably benign	Het
Col5a1	G	A	2: 27,854,123 (GRCm39)	R569K	unknown	Het
Cpn1	T	C	19: 43,958,599 (GRCm39)	I201V	probably damaging	Het
Cr1l	T	C	1: 194,806,027 (GRCm39)	D152G	probably benign	Het
Csf2rb	A	T	15: 78,232,746 (GRCm39)	E684D	probably benign	Het
Csmd2	A	T	4: 128,294,163 (GRCm39)	N1164I		Het
Ddx42	A	G	11: 106,132,435 (GRCm39)	N486S	probably benign	Het
Dnah6	A	G	6: 73,060,040 (GRCm39)	I2848T	probably benign	Het
Dnah7a	T	C	1: 53,674,505 (GRCm39)	D424G	probably benign	Het
Dnah9	T	C	11: 65,732,081 (GRCm39)	H4275R	probably benign	Het
Epha6	G	A	16: 59,476,117 (GRCm39)	T1083M	probably damaging	Het
Fzd1	A	G	5: 4,807,216 (GRCm39)	I122T	probably damaging	Het
Gm28042	T	C	2: 119,871,705 (GRCm39)	F914S	probably damaging	Het
Gpatch11	A	G	17: 79,146,547 (GRCm39)	D64G	probably benign	Het
Hinfp	A	G	9: 44,209,083 (GRCm39)	V345A	possibly damaging	Het
Hoxd8	C	T	2: 74,536,115 (GRCm39)	S75L	probably benign	Het
Igsf1	A	G	X: 48,884,191 (GRCm39)	M2T	possibly damaging	Het
Krt42	C	T	11: 100,157,808 (GRCm39)	E219K	probably damaging	Het
Mcm3	C	A	1: 20,879,905 (GRCm39)	D531Y	probably damaging	Het
Nadk2	A	G	15: 9,071,774 (GRCm39)	T65A	probably damaging	Het
Nbea	AC	A	3: 55,998,393 (GRCm39)		probably null	Het
Neb	T	C	2: 52,089,456 (GRCm39)	D5172G	probably null	Het
Nlrp9a	G	T	7: 26,258,038 (GRCm39)	R552I	possibly damaging	Het
Nr3c2	A	G	8: 77,636,236 (GRCm39)	T446A	probably benign	Het
Or4x11	T	C	2: 89,867,842 (GRCm39)	I193T	probably benign	Het
Or51g2	C	T	7: 102,623,112 (GRCm39)	W29*	probably null	Het
Or52s6	C	A	7: 103,092,165 (GRCm39)	R55L	possibly damaging	Het
Or7g21	T	A	9: 19,032,984 (GRCm39)	C241*	probably null	Het
Pcdhb10	A	G	18: 37,546,553 (GRCm39)	Q543R	possibly damaging	Het
Pcdhga6	A	G	18: 37,841,102 (GRCm39)	H274R	possibly damaging	Het
Pknox1	A	G	17: 31,809,672 (GRCm39)	D92G	probably damaging	Het
Pnpla6	C	T	8: 3,573,294 (GRCm39)	P386L	probably benign	Het
Rlf	G	C	4: 121,007,487 (GRCm39)	P608A	possibly damaging	Het
Sardh	A	T	2: 27,105,065 (GRCm39)	I686N	probably damaging	Het
Sstr3	G	T	15: 78,423,792 (GRCm39)	N318K	probably damaging	Het
St6gal1	A	G	16: 23,140,168 (GRCm39)	Y113C	probably damaging	Het
Syndig1	T	C	2: 149,845,160 (GRCm39)	F228L	probably damaging	Het
Ttll5	T	A	12: 85,937,795 (GRCm39)	C375*	probably null	Het
Zscan4c	T	A	7: 10,740,824 (GRCm39)	S114R	probably benign	Het

Other mutations in Msantd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02514:Msantd1	APN	5	35,078,887 (GRCm39)	missense	probably damaging	0.99
IGL02998:Msantd1	APN	5	35,078,768 (GRCm39)	missense	probably damaging	1.00
G1patch:Msantd1	UTSW	5	35,078,765 (GRCm39)	missense	probably damaging	1.00
R0538:Msantd1	UTSW	5	35,075,069 (GRCm39)	missense	probably damaging	1.00
R1658:Msantd1	UTSW	5	35,078,906 (GRCm39)	missense	probably benign	0.43
R1658:Msantd1	UTSW	5	35,078,905 (GRCm39)	missense	probably damaging	0.99
R3745:Msantd1	UTSW	5	35,080,811 (GRCm39)	missense	possibly damaging	0.94
R5241:Msantd1	UTSW	5	35,078,813 (GRCm39)	missense	probably damaging	1.00
R6009:Msantd1	UTSW	5	35,075,049 (GRCm39)	missense	probably benign	0.45
R6406:Msantd1	UTSW	5	35,080,665 (GRCm39)	splice site	probably null
R6725:Msantd1	UTSW	5	35,078,765 (GRCm39)	missense	probably damaging	1.00
R7055:Msantd1	UTSW	5	35,075,005 (GRCm39)	missense	probably benign
R7327:Msantd1	UTSW	5	35,075,039 (GRCm39)	missense	probably damaging	1.00
R9279:Msantd1	UTSW	5	35,080,885 (GRCm39)	missense	probably benign
R9623:Msantd1	UTSW	5	35,075,076 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CATGTTCCAGTCCCTGTGAC -3'
(R):5'- GTCCTAGAAAGCCCTTCAGAGAAG -3'

Sequencing Primer
(F):5'- GTCTCTCCCCAACAGGTCAGAG -3'
(R):5'- CCCTTCAGAGAAGCACAGAGG -3'

Posted On

2022-03-25