Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02596:Mast1'

299860

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mast1

Ensembl Gene

ENSMUSG00000053693

Gene Name

microtubule associated serine/threonine kinase 1

Synonyms

9430008B02Rik, SAST, SAST170

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02596

Quality Score

Status

Chromosome

Chromosomal Location

85638532-85663988 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 85644400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 843 (A843E)

Ref Sequence

ENSEMBL: ENSMUSP00000105363 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109741] [ENSMUST00000119820]

AlphaFold

Q9R1L5

Predicted Effect

probably benign
Transcript: ENSMUST00000109741
AA Change: A843E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105363
Gene: ENSMUSG00000053693
AA Change: A843E

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: 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

noncoding transcript
Transcript: ENSMUST00000138221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148573

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153000

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	T	G	4: 73,868,904 (GRCm39)	Q11H	possibly damaging	Het
Armcx5	T	A	X: 134,647,268 (GRCm39)	I448K	probably damaging	Het
Atp4b	T	A	8: 13,443,471 (GRCm39)	Y69F	possibly damaging	Het
Ccdc7b	T	A	8: 129,798,959 (GRCm39)	V12E	probably benign	Het
Cdc5l	C	A	17: 45,735,530 (GRCm39)		probably benign	Het
Clptm1l	C	T	13: 73,761,785 (GRCm39)	R330C	probably benign	Het
Cpq	C	T	15: 33,213,160 (GRCm39)	R60W	probably damaging	Het
Cpvl	T	C	6: 53,908,995 (GRCm39)	Y256C	probably damaging	Het
Cryzl2	A	T	1: 157,292,539 (GRCm39)	D107V	probably damaging	Het
Cyp2e1	G	A	7: 140,350,031 (GRCm39)	V239M	probably damaging	Het
Cyp2j7	T	A	4: 96,103,659 (GRCm39)	D292V	possibly damaging	Het
Dcaf1	A	G	9: 106,740,220 (GRCm39)	Y1202C	probably damaging	Het
Dnah3	T	C	7: 119,538,137 (GRCm39)	N3616S	probably benign	Het
Enam	A	G	5: 88,650,885 (GRCm39)	D723G	probably benign	Het
Eps8l1	G	A	7: 4,473,871 (GRCm39)	R226H	probably damaging	Het
Erich2	A	G	2: 70,343,147 (GRCm39)		probably benign	Het
Esyt3	A	C	9: 99,210,068 (GRCm39)	L271V	probably benign	Het
Fer1l4	T	C	2: 155,881,052 (GRCm39)	N838S	probably benign	Het
Gad1	T	C	2: 70,425,028 (GRCm39)	Y441H	probably damaging	Het
Gja1	G	T	10: 56,264,348 (GRCm39)	V236F	possibly damaging	Het
Gpr156	T	C	16: 37,799,086 (GRCm39)	I100T	probably benign	Het
Hace1	A	G	10: 45,576,736 (GRCm39)	T803A	possibly damaging	Het
Jagn1	G	A	6: 113,424,562 (GRCm39)	V145I	probably benign	Het
Kdm4b	C	A	17: 56,706,706 (GRCm39)	T899K	probably benign	Het
Klk1b8	G	A	7: 43,602,187 (GRCm39)	V40M	probably damaging	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Mbd1	T	A	18: 74,409,868 (GRCm39)		probably benign	Het
Mdga1	A	G	17: 30,051,379 (GRCm39)		probably benign	Het
Mlh3	A	G	12: 85,287,732 (GRCm39)		probably null	Het
Or10ag53	C	A	2: 87,082,473 (GRCm39)	T64K	probably damaging	Het
Or5b109	A	T	19: 13,211,763 (GRCm39)	I50F	probably damaging	Het
Pwp1	A	G	10: 85,707,882 (GRCm39)		probably null	Het
Rbm12	C	T	2: 155,937,480 (GRCm39)		probably benign	Het
Slc12a7	T	A	13: 73,933,242 (GRCm39)	V100E	probably benign	Het
Spata31e2	T	A	1: 26,723,083 (GRCm39)	H699L	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tgfb1i1	T	A	7: 127,848,068 (GRCm39)	M1K	probably null	Het
Tubgcp6	T	A	15: 88,985,117 (GRCm39)	E1657V	probably damaging	Het
Zfp770	A	G	2: 114,026,308 (GRCm39)	V587A	probably benign	Het
Zxdc	A	G	6: 90,350,691 (GRCm39)		probably null	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
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
R1297:Mast1	UTSW	8	85,639,345 (GRCm39)	missense	probably benign	0.05
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

Posted On

2015-04-16