Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02987:Mast1'

406758

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 #

IGL02987

Quality Score

Status

Chromosome

Chromosomal Location

85638532-85663988 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85652348 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 268 (V268I)

Ref Sequence

ENSEMBL: ENSMUSP00000105363 (fasta)

Gene Model

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

AlphaFold

Q9R1L5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109741
AA Change: V268I

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105363
Gene: ENSMUSG00000053693
AA Change: V268I

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

possibly damaging
Transcript: ENSMUST00000119820
AA Change: V268I

PolyPhen 2 Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113547
Gene: ENSMUSG00000053693
AA Change: V268I

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: ENSMUST00000130923

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148573

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175085

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1e1	T	C	13: 4,643,591 (GRCm39)	D222G	probably damaging	Het
Apbb1ip	T	A	2: 22,757,649 (GRCm39)	Y422*	probably null	Het
Asf1a	T	C	10: 53,473,367 (GRCm39)	F28L	probably damaging	Het
Atp6v1c1	T	A	15: 38,690,806 (GRCm39)	M319K	possibly damaging	Het
Bsn	A	G	9: 108,003,503 (GRCm39)	S301P	probably benign	Het
Cds1	A	G	5: 101,960,391 (GRCm39)	I281V	possibly damaging	Het
Col4a4	T	C	1: 82,476,646 (GRCm39)		probably benign	Het
Coq2	G	A	5: 100,811,554 (GRCm39)	Q103*	probably null	Het
Dgkh	A	G	14: 78,827,312 (GRCm39)		probably null	Het
Dnah9	A	G	11: 65,746,098 (GRCm39)	I4005T	probably damaging	Het
Dnah9	C	A	11: 65,732,099 (GRCm39)	R4269L	probably benign	Het
F2rl1	T	A	13: 95,650,741 (GRCm39)	Q47L	probably benign	Het
Fhod3	T	C	18: 25,246,610 (GRCm39)	V1272A	possibly damaging	Het
Gdpd4	T	C	7: 97,610,758 (GRCm39)		probably benign	Het
Gfral	A	G	9: 76,104,583 (GRCm39)	V143A	possibly damaging	Het
Gltp	A	C	5: 114,812,243 (GRCm39)	F88V	probably benign	Het
Hectd1	T	G	12: 51,791,550 (GRCm39)	K2565T	probably damaging	Het
Jade2	A	G	11: 51,721,308 (GRCm39)	S207P	probably damaging	Het
Khdc3	A	G	9: 73,009,948 (GRCm39)	I53V	possibly damaging	Het
Lce1a1	T	C	3: 92,554,409 (GRCm39)	T22A	unknown	Het
Lgals9	A	T	11: 78,858,303 (GRCm39)	H196Q	possibly damaging	Het
Lrrc37a	A	T	11: 103,391,239 (GRCm39)	N1395K	probably benign	Het
Myh11	T	G	16: 14,050,396 (GRCm39)	E523A	probably damaging	Het
Napb	T	C	2: 148,539,431 (GRCm39)		probably null	Het
Nlrp4e	G	A	7: 23,000,858 (GRCm39)	R51H	probably damaging	Het
Ola1	T	C	2: 72,987,242 (GRCm39)	D130G	probably benign	Het
Or8c13	A	T	9: 38,091,919 (GRCm39)	S67T	possibly damaging	Het
Pard3	G	A	8: 128,115,972 (GRCm39)	C687Y	probably damaging	Het
Rassf9	A	G	10: 102,381,109 (GRCm39)	T164A	possibly damaging	Het
Sema3a	A	G	5: 13,615,863 (GRCm39)	Y429C	probably damaging	Het
Slc25a54	T	C	3: 109,023,653 (GRCm39)	V416A	probably benign	Het
Slc30a5	T	C	13: 100,940,423 (GRCm39)	T631A	probably damaging	Het
Sorl1	A	T	9: 41,952,349 (GRCm39)	C736S	probably damaging	Het
Tet3	A	T	6: 83,345,074 (GRCm39)	S1788T	probably damaging	Het
Trim42	A	G	9: 97,247,868 (GRCm39)	V276A	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
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

2016-08-02