Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01880:Shtn1'

179026

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Shtn1

Ensembl Gene

ENSMUSG00000041362

Gene Name

shootin 1

Synonyms

shootin1, 4930506M07Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01880

Quality Score

Status

Chromosome

Chromosomal Location

58961788-59064532 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 59063881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126227 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047511] [ENSMUST00000163821]

AlphaFold

Q8K2Q9

Predicted Effect

probably benign
Transcript: ENSMUST00000047511

SMART Domains

Protein: ENSMUSP00000041378
Gene: ENSMUSG00000041362

Domain	Start	End	E-Value	Type
coiled coil region	7	59	N/A	INTRINSIC
low complexity region	120	132	N/A	INTRINSIC
coiled coil region	137	233	N/A	INTRINSIC
coiled coil region	259	353	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163821

SMART Domains

Protein: ENSMUSP00000126227
Gene: ENSMUSG00000041362

Domain	Start	End	E-Value	Type
internal_repeat_1	59	77	1.42e-6	PROSPERO
low complexity region	120	132	N/A	INTRINSIC
internal_repeat_1	207	225	1.42e-6	PROSPERO
coiled coil region	259	353	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	C	11: 110,184,089 (GRCm39)	T1003A	probably benign	Het
Capn8	T	C	1: 182,425,141 (GRCm39)	F143S	probably damaging	Het
Dnaaf2	A	T	12: 69,236,811 (GRCm39)	L766I	probably benign	Het
Gle1	T	A	2: 29,833,762 (GRCm39)	S386R	possibly damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Klrb1	A	T	6: 128,689,282 (GRCm39)	V63E	possibly damaging	Het
Mettl1	A	G	10: 126,880,492 (GRCm39)	H138R	probably damaging	Het
Or7c19	A	G	8: 85,957,712 (GRCm39)	N196S	probably benign	Het
Or8g2	T	A	9: 39,821,237 (GRCm39)	I46N	possibly damaging	Het
Phf8-ps	C	A	17: 33,285,690 (GRCm39)	V371L	probably damaging	Het
Ppp1r12b	A	G	1: 134,814,159 (GRCm39)		probably null	Het
Slc22a15	T	C	3: 101,768,164 (GRCm39)	R503G	probably benign	Het
Smarcd2	G	A	11: 106,157,503 (GRCm39)	R148W	probably damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Ssc5d	T	A	7: 4,936,218 (GRCm39)	V488E	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r57	A	G	7: 41,049,619 (GRCm39)	I710T	possibly damaging	Het
Vps41	T	G	13: 18,994,641 (GRCm39)	S163A	probably benign	Het
Zc3h6	C	T	2: 128,859,298 (GRCm39)	L1110F	probably damaging	Het

Other mutations in Shtn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00945:Shtn1	APN	19	59,007,384 (GRCm39)	missense	possibly damaging	0.56
IGL01619:Shtn1	APN	19	59,016,601 (GRCm39)	missense	probably damaging	0.99
IGL02214:Shtn1	APN	19	58,988,318 (GRCm39)	splice site	probably benign
IGL03400:Shtn1	APN	19	59,020,690 (GRCm39)	splice site	probably benign
R0011:Shtn1	UTSW	19	59,020,650 (GRCm39)	missense	possibly damaging	0.72
R0011:Shtn1	UTSW	19	59,020,650 (GRCm39)	missense	possibly damaging	0.72
R0299:Shtn1	UTSW	19	59,007,383 (GRCm39)	missense	probably benign	0.00
R0606:Shtn1	UTSW	19	58,988,372 (GRCm39)	missense	probably damaging	0.99
R1081:Shtn1	UTSW	19	58,963,447 (GRCm39)	missense	probably benign	0.04
R1212:Shtn1	UTSW	19	59,039,322 (GRCm39)	missense	probably damaging	1.00
R1677:Shtn1	UTSW	19	58,998,222 (GRCm39)	missense	probably damaging	1.00
R1791:Shtn1	UTSW	19	59,020,632 (GRCm39)	missense	probably damaging	0.99
R1966:Shtn1	UTSW	19	58,963,470 (GRCm39)	missense	probably benign
R3076:Shtn1	UTSW	19	58,983,518 (GRCm39)	missense	probably damaging	1.00
R3552:Shtn1	UTSW	19	58,963,470 (GRCm39)	missense	probably benign	0.28
R3736:Shtn1	UTSW	19	59,010,700 (GRCm39)	missense	probably benign
R4615:Shtn1	UTSW	19	59,010,648 (GRCm39)	missense	probably benign	0.18
R4789:Shtn1	UTSW	19	59,039,305 (GRCm39)	missense	probably damaging	0.99
R4791:Shtn1	UTSW	19	59,039,305 (GRCm39)	missense	probably damaging	0.99
R4792:Shtn1	UTSW	19	59,039,305 (GRCm39)	missense	probably damaging	0.99
R4939:Shtn1	UTSW	19	59,010,633 (GRCm39)	missense	probably benign	0.00
R5245:Shtn1	UTSW	19	59,020,652 (GRCm39)	missense	possibly damaging	0.90
R5387:Shtn1	UTSW	19	59,026,801 (GRCm39)	missense	probably damaging	1.00
R5813:Shtn1	UTSW	19	59,020,673 (GRCm39)	missense	probably damaging	1.00
R6013:Shtn1	UTSW	19	58,963,533 (GRCm39)	missense	probably damaging	1.00
R6374:Shtn1	UTSW	19	59,026,728 (GRCm39)	missense	possibly damaging	0.94
R7030:Shtn1	UTSW	19	58,998,266 (GRCm39)	missense	possibly damaging	0.74
R7143:Shtn1	UTSW	19	59,007,338 (GRCm39)	missense	probably damaging	0.99
R7487:Shtn1	UTSW	19	58,992,292 (GRCm39)	missense	probably damaging	0.99
R7496:Shtn1	UTSW	19	59,016,616 (GRCm39)	missense	probably damaging	1.00
R7889:Shtn1	UTSW	19	58,992,328 (GRCm39)	missense	probably damaging	0.99
R8209:Shtn1	UTSW	19	58,992,328 (GRCm39)	missense	possibly damaging	0.86
R8226:Shtn1	UTSW	19	58,992,328 (GRCm39)	missense	possibly damaging	0.86
R8290:Shtn1	UTSW	19	58,988,326 (GRCm39)	missense	probably damaging	1.00
R8857:Shtn1	UTSW	19	58,978,800 (GRCm39)	missense	probably damaging	1.00
R9289:Shtn1	UTSW	19	58,998,257 (GRCm39)	missense	probably damaging	0.99
R9496:Shtn1	UTSW	19	58,963,457 (GRCm39)	missense	probably damaging	1.00
R9598:Shtn1	UTSW	19	59,026,735 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-05-07