Mutagenetix > Incidental Mutation

Incidental Mutation 'R1297:Mast1'

158177

Institutional Source

Beutler Lab

Gene Symbol

Mast1

Ensembl Gene

ENSMUSG00000053693

Gene Name

microtubule associated serine/threonine kinase 1

Synonyms

9430008B02Rik, SAST, SAST170

MMRRC Submission

039363-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1297 (G1)

Quality Score

199

Status

Validated

Chromosome

Chromosomal Location

85638532-85663988 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85639345 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1328 (V1328A)

Ref Sequence

ENSEMBL: ENSMUSP00000105363 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003910] [ENSMUST00000109741] [ENSMUST00000109744] [ENSMUST00000119820] [ENSMUST00000134569] [ENSMUST00000145292]

AlphaFold

Q9R1L5

Predicted Effect

probably benign
Transcript: ENSMUST00000003910

SMART Domains

Protein: ENSMUSP00000003910
Gene: ENSMUSG00000003812

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:DNase_II	21	349	5.8e-116	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109741
AA Change: V1328A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000105363
Gene: ENSMUSG00000053693
AA Change: V1328A

Domain	Start	End	E-Value	Type
Pfam:DUF1908	61	337	1.4e-136	PFAM
S_TKc	376	649	4.07e-97	SMART
S_TK_X	650	710	6.23e-2	SMART
low complexity region	820	836	N/A	INTRINSIC
low complexity region	863	878	N/A	INTRINSIC
low complexity region	933	961	N/A	INTRINSIC
PDZ	977	1057	3.49e-14	SMART
low complexity region	1104	1132	N/A	INTRINSIC
low complexity region	1149	1174	N/A	INTRINSIC
low complexity region	1212	1224	N/A	INTRINSIC
low complexity region	1243	1252	N/A	INTRINSIC
low complexity region	1479	1492	N/A	INTRINSIC
low complexity region	1519	1535	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109744

SMART Domains

Protein: ENSMUSP00000105366
Gene: ENSMUSG00000003812

Domain	Start	End	E-Value	Type
Pfam:DNase_II	9	328	4.8e-114	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119820

SMART Domains

Protein: ENSMUSP00000113547
Gene: ENSMUSG00000053693

Domain	Start	End	E-Value	Type
Pfam:DUF1908	61	338	5.1e-148	PFAM
S_TKc	376	644	2.79e-86	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128400

Predicted Effect

probably benign
Transcript: ENSMUST00000134569

SMART Domains

Protein: ENSMUSP00000117198
Gene: ENSMUSG00000003812

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:DNase_II	20	119	6.6e-32	PFAM
Pfam:DNase_II	115	182	4.3e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135219

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148573

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155942

Predicted Effect

probably benign
Transcript: ENSMUST00000145292

SMART Domains

Protein: ENSMUSP00000138203
Gene: ENSMUSG00000003812

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:DNase_II	20	97	2.4e-21	PFAM

Meta Mutation Damage Score

0.0582

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.8%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp1	A	G	11: 5,820,834 (GRCm39)	N542D	possibly damaging	Het
Ap2b1	T	A	11: 83,223,935 (GRCm39)	W217R	probably damaging	Het
Cep290	T	A	10: 100,374,962 (GRCm39)		probably benign	Het
Col27a1	G	A	4: 63,183,868 (GRCm39)		probably benign	Het
Cyp2d12	A	T	15: 82,441,887 (GRCm39)	H109L	probably benign	Het
Dnah17	T	C	11: 118,012,192 (GRCm39)		probably benign	Het
Golga3	G	A	5: 110,352,709 (GRCm39)	A867T	probably benign	Het
Gstt4	T	A	10: 75,653,133 (GRCm39)	N143I	possibly damaging	Het
Hdac2	G	A	10: 36,862,370 (GRCm39)	R78Q	possibly damaging	Het
Itsn2	T	C	12: 4,750,378 (GRCm39)	I1241T	probably damaging	Het
Kalrn	T	C	16: 33,836,868 (GRCm39)	K2249R	probably damaging	Het
Klrg1	T	A	6: 122,250,538 (GRCm39)	I138F	probably benign	Het
Mettl25	T	C	10: 105,659,126 (GRCm39)	S386G	probably benign	Het
Nme2	A	T	11: 93,842,782 (GRCm39)	N210K	possibly damaging	Het
Pgap1	T	C	1: 54,567,682 (GRCm39)	S388G	possibly damaging	Het
Pgk2	C	A	17: 40,519,255 (GRCm39)	V58L	probably benign	Het
Phf11	A	T	14: 59,495,996 (GRCm39)	H39Q	probably benign	Het
Pou6f1	T	A	15: 100,476,186 (GRCm39)	T292S	probably damaging	Het
Rbm5	G	A	9: 107,621,441 (GRCm39)	R15C	probably damaging	Het
Rnf215	T	C	11: 4,089,806 (GRCm39)	V273A	possibly damaging	Het
Rras	A	G	7: 44,670,003 (GRCm39)	D145G	probably damaging	Het
Safb2	T	C	17: 56,891,265 (GRCm39)		probably benign	Het
Setdb1	A	T	3: 95,257,187 (GRCm39)		probably benign	Het
Sp5	A	G	2: 70,306,873 (GRCm39)	D186G	probably benign	Het
Thada	A	G	17: 84,559,863 (GRCm39)		probably benign	Het
Tle1	A	G	4: 72,043,075 (GRCm39)	V598A	probably damaging	Het
Tnrc6c	A	G	11: 117,624,529 (GRCm39)	N947S	possibly damaging	Het
Tnxb	T	C	17: 34,929,140 (GRCm39)	S2728P	probably damaging	Het
Vmn1r13	A	G	6: 57,187,392 (GRCm39)	R184G	probably damaging	Het
Wdr24	C	T	17: 26,046,322 (GRCm39)	T522I	possibly damaging	Het
Zfyve16	A	G	13: 92,658,840 (GRCm39)	V357A	probably benign	Het

Other mutations in Mast1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01395:Mast1	APN	8	85,639,444 (GRCm39)	missense	possibly damaging	0.87
IGL01862:Mast1	APN	8	85,639,875 (GRCm39)	splice site	probably null
IGL01918:Mast1	APN	8	85,647,838 (GRCm39)	missense	probably damaging	1.00
IGL02212:Mast1	APN	8	85,648,026 (GRCm39)	missense	probably damaging	1.00
IGL02221:Mast1	APN	8	85,645,384 (GRCm39)	missense	possibly damaging	0.92
IGL02370:Mast1	APN	8	85,638,883 (GRCm39)	missense	probably benign
IGL02470:Mast1	APN	8	85,647,841 (GRCm39)	missense	probably damaging	1.00
IGL02596:Mast1	APN	8	85,644,400 (GRCm39)	missense	probably benign
IGL02716:Mast1	APN	8	85,662,352 (GRCm39)	missense	probably damaging	1.00
IGL02987:Mast1	APN	8	85,652,348 (GRCm39)	missense	possibly damaging	0.75
IGL03287:Mast1	APN	8	85,639,982 (GRCm39)	missense	probably benign	0.01
R0255:Mast1	UTSW	8	85,638,650 (GRCm39)	missense	probably benign
R0388:Mast1	UTSW	8	85,642,166 (GRCm39)	missense	probably benign	0.13
R0480:Mast1	UTSW	8	85,639,718 (GRCm39)	missense	probably damaging	0.99
R0727:Mast1	UTSW	8	85,648,044 (GRCm39)	missense	probably damaging	1.00
R1175:Mast1	UTSW	8	85,651,956 (GRCm39)	missense	probably benign	0.29
R1328:Mast1	UTSW	8	85,644,617 (GRCm39)	intron	probably benign
R1454:Mast1	UTSW	8	85,647,264 (GRCm39)	missense	probably damaging	1.00
R1532:Mast1	UTSW	8	85,655,238 (GRCm39)	nonsense	probably null
R1752:Mast1	UTSW	8	85,651,965 (GRCm39)	missense	probably benign
R1777:Mast1	UTSW	8	85,638,697 (GRCm39)	missense	probably benign
R1905:Mast1	UTSW	8	85,642,895 (GRCm39)	missense	probably damaging	1.00
R1906:Mast1	UTSW	8	85,642,895 (GRCm39)	missense	probably damaging	1.00
R1907:Mast1	UTSW	8	85,642,895 (GRCm39)	missense	probably damaging	1.00
R2056:Mast1	UTSW	8	85,646,995 (GRCm39)	missense	possibly damaging	0.95
R2071:Mast1	UTSW	8	85,647,823 (GRCm39)	missense	probably damaging	1.00
R2145:Mast1	UTSW	8	85,648,107 (GRCm39)	missense	probably damaging	1.00
R2318:Mast1	UTSW	8	85,647,754 (GRCm39)	missense	probably damaging	1.00
R2842:Mast1	UTSW	8	85,650,537 (GRCm39)	missense	probably damaging	1.00
R3870:Mast1	UTSW	8	85,645,360 (GRCm39)	missense	probably damaging	1.00
R3895:Mast1	UTSW	8	85,662,352 (GRCm39)	missense	probably damaging	1.00
R3973:Mast1	UTSW	8	85,645,393 (GRCm39)	missense	probably damaging	1.00
R4405:Mast1	UTSW	8	85,647,520 (GRCm39)	missense	probably damaging	1.00
R4533:Mast1	UTSW	8	85,647,990 (GRCm39)	missense	probably damaging	1.00
R4725:Mast1	UTSW	8	85,655,635 (GRCm39)	missense	possibly damaging	0.93
R4770:Mast1	UTSW	8	85,655,875 (GRCm39)	missense	probably benign	0.02
R4776:Mast1	UTSW	8	85,663,822 (GRCm39)	critical splice donor site	probably null
R4835:Mast1	UTSW	8	85,650,408 (GRCm39)	missense	probably damaging	1.00
R4871:Mast1	UTSW	8	85,647,287 (GRCm39)	missense	probably damaging	1.00
R4953:Mast1	UTSW	8	85,645,357 (GRCm39)	missense	probably damaging	0.99
R4960:Mast1	UTSW	8	85,644,500 (GRCm39)	missense	probably benign
R4978:Mast1	UTSW	8	85,662,416 (GRCm39)	missense	probably damaging	0.98
R5164:Mast1	UTSW	8	85,640,147 (GRCm39)	unclassified	probably benign
R5235:Mast1	UTSW	8	85,640,068 (GRCm39)	missense	probably damaging	1.00
R5297:Mast1	UTSW	8	85,639,947 (GRCm39)	critical splice donor site	probably null
R5463:Mast1	UTSW	8	85,652,136 (GRCm39)	missense	probably damaging	1.00
R5546:Mast1	UTSW	8	85,642,889 (GRCm39)	missense	probably damaging	1.00
R5651:Mast1	UTSW	8	85,655,597 (GRCm39)	nonsense	probably null
R6124:Mast1	UTSW	8	85,651,936 (GRCm39)	missense	probably benign	0.01
R6213:Mast1	UTSW	8	85,642,198 (GRCm39)	missense	probably damaging	1.00
R6717:Mast1	UTSW	8	85,644,383 (GRCm39)	missense	probably benign
R7000:Mast1	UTSW	8	85,655,598 (GRCm39)	missense	probably damaging	1.00
R7011:Mast1	UTSW	8	85,638,574 (GRCm39)	nonsense	probably null
R7164:Mast1	UTSW	8	85,661,933 (GRCm39)	missense	possibly damaging	0.81
R7695:Mast1	UTSW	8	85,647,557 (GRCm39)	missense	probably damaging	1.00
R7845:Mast1	UTSW	8	85,651,954 (GRCm39)	nonsense	probably null
R7882:Mast1	UTSW	8	85,639,947 (GRCm39)	critical splice donor site	probably null
R8167:Mast1	UTSW	8	85,647,987 (GRCm39)	missense	probably damaging	1.00
R8197:Mast1	UTSW	8	85,639,450 (GRCm39)	missense	possibly damaging	0.90
R8773:Mast1	UTSW	8	85,642,953 (GRCm39)	missense	probably damaging	1.00
R9477:Mast1	UTSW	8	85,638,779 (GRCm39)	missense	probably benign	0.18
R9526:Mast1	UTSW	8	85,647,805 (GRCm39)	missense	probably damaging	1.00
R9557:Mast1	UTSW	8	85,657,474 (GRCm39)	missense	probably damaging	1.00
R9655:Mast1	UTSW	8	85,650,660 (GRCm39)	missense	probably damaging	1.00
X0066:Mast1	UTSW	8	85,647,507 (GRCm39)	missense	probably damaging	1.00
Z1176:Mast1	UTSW	8	85,645,310 (GRCm39)	missense	probably damaging	1.00
Z1176:Mast1	UTSW	8	85,639,088 (GRCm39)	missense	probably damaging	0.97
Z1177:Mast1	UTSW	8	85,647,075 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- CTCATGTTCCTGCACTGGACTTAGC -3'
(R):5'- AGCTTCCAGCACGCCTAATTCC -3'

Sequencing Primer
(F):5'- TGTGCAACCCGAGTCAC -3'
(R):5'- GGGCTGTCACCGAAACTAC -3'

Posted On

2014-02-18