Mutagenetix > Incidental Mutation

Incidental Mutation 'R6093:Msantd5f6'

486033

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

044250-MU

Accession Numbers

Essential gene?

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

Stock #

R6093 (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 73320258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 174 (I174V)

Ref Sequence

ENSEMBL: ENSMUSP00000081520 (fasta)

Gene Model

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

AlphaFold

Q5RIS0

Predicted Effect

probably benign
Transcript: ENSMUST00000084480
AA Change: I174V

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000081520
Gene: ENSMUSG00000066137
AA Change: I174V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000147434

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,490,214 (GRCm39)		probably benign	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Adgrl3	A	C	5: 81,794,369 (GRCm39)	R531S	probably benign	Het
Ahctf1	T	C	1: 179,590,517 (GRCm39)	D1252G	probably benign	Het
Ano1	T	C	7: 144,165,114 (GRCm39)	N648S	possibly damaging	Het
Antxr2	C	A	5: 98,178,319 (GRCm39)	L30F	probably damaging	Het
Apol9a	T	A	15: 77,288,620 (GRCm39)	N249I	probably benign	Het
Atp2a1	A	G	7: 126,046,093 (GRCm39)	V977A	probably damaging	Het
Clmn	T	C	12: 104,738,215 (GRCm39)	T968A	probably benign	Het
Clstn2	A	T	9: 97,340,263 (GRCm39)	I703N	probably damaging	Het
Cnot1	T	C	8: 96,475,522 (GRCm39)	T1051A	probably benign	Het
Csde1	A	G	3: 102,960,218 (GRCm39)	Y615C	probably damaging	Het
Dcaf17	A	G	2: 70,912,356 (GRCm39)	K314E	possibly damaging	Het
Dnah10	A	T	5: 124,830,238 (GRCm39)	I711F	probably benign	Het
Duox1	G	T	2: 122,177,755 (GRCm39)	R1513L	probably benign	Het
Exph5	A	G	9: 53,283,917 (GRCm39)	T333A	possibly damaging	Het
Fmnl2	A	G	2: 53,004,880 (GRCm39)	D658G	probably damaging	Het
Gcgr	T	A	11: 120,428,947 (GRCm39)	L395Q	probably damaging	Het
Gm10801	C	CGTA	2: 98,494,152 (GRCm39)		probably null	Het
Greb1	C	T	12: 16,734,487 (GRCm39)	C1501Y	probably benign	Het
Iqgap2	A	G	13: 95,765,471 (GRCm39)	V1533A	probably damaging	Het
Kcnc3	A	C	7: 44,240,932 (GRCm39)	D208A	probably benign	Het
Kctd14	A	G	7: 97,104,160 (GRCm39)		probably benign	Het
Mcm5	C	A	8: 75,836,374 (GRCm39)	D13E	probably benign	Het
Med23	A	G	10: 24,754,341 (GRCm39)	I221V	probably benign	Het
Myo19	T	C	11: 84,776,535 (GRCm39)	F64L	probably damaging	Het
Ncapd3	T	G	9: 26,967,454 (GRCm39)	S597A	probably damaging	Het
Neb	A	T	2: 52,141,782 (GRCm39)	Y72*	probably null	Het
Nrip1	C	T	16: 76,091,652 (GRCm39)		probably benign	Het
Or5h26	T	A	16: 58,988,330 (GRCm39)	M59L	probably damaging	Het
Otx1	A	T	11: 21,949,406 (GRCm39)	L24H	probably damaging	Het
Phkb	T	A	8: 86,668,958 (GRCm39)	D328E	probably damaging	Het
Phyh	G	T	2: 4,923,896 (GRCm39)	A6S	possibly damaging	Het
Pole	A	T	5: 110,459,956 (GRCm39)	Q1120L	probably benign	Het
Rbmxl1	T	C	8: 79,232,572 (GRCm39)	Y257C	probably damaging	Het
Smurf2	A	T	11: 106,759,449 (GRCm39)	H69Q	possibly damaging	Het
Tmem167b	A	T	3: 108,469,439 (GRCm39)	M1K	probably null	Het
Tmod4	A	T	3: 95,032,929 (GRCm39)	T22S	probably benign	Het
Triml1	T	C	8: 43,593,755 (GRCm39)	I149M	probably benign	Het
Vmn2r108	T	C	17: 20,701,402 (GRCm39)	T33A	probably benign	Het
Vmn2r76	T	A	7: 85,877,469 (GRCm39)	R525*	probably null	Het
Zfp109	A	T	7: 23,928,558 (GRCm39)	W292R	probably benign	Het
Zfp292	C	T	4: 34,811,902 (GRCm39)	A381T	probably damaging	Het
Zfp791	C	T	8: 85,840,135 (GRCm39)		probably null	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
R6786:Msantd5f6	UTSW	4	73,321,843 (GRCm39)	missense	possibly damaging	0.86
R8033:Msantd5f6	UTSW	4	73,321,329 (GRCm39)	missense	probably benign	0.01
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'- AAGGGTACAGTCCTTGATCTCTCC -3'
(R):5'- ATGGTAGACTCTGGATCCTGGG -3'

Sequencing Primer
(F):5'- GATCTCTCCCTACTAAGAGTGGAG -3'
(R):5'- AGACTCTGGATCCTGGGCTCTC -3'

Posted On

2017-08-16