Mutagenetix > Incidental Mutation

Incidental Mutation 'R6374:Shtn1'

513728

Institutional Source

Beutler Lab

Gene Symbol

Shtn1

Ensembl Gene

ENSMUSG00000041362

Gene Name

shootin 1

Synonyms

shootin1, 4930506M07Rik

MMRRC Submission

044524-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6374 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58961788-59064532 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59026728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 121 (D121V)

Ref Sequence

ENSEMBL: ENSMUSP00000126227 (fasta)

Gene Model

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

AlphaFold

Q8K2Q9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047511
AA Change: D121V

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000041378
Gene: ENSMUSG00000041362
AA Change: D121V

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

possibly damaging
Transcript: ENSMUST00000163821
AA Change: D121V

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126227
Gene: ENSMUSG00000041362
AA Change: D121V

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

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.4%

Validation Efficiency

99% (75/76)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	C	2: 151,314,800 (GRCm39)	S293A	possibly damaging	Het
5430401F13Rik	A	T	6: 131,529,892 (GRCm39)	Q162L	unknown	Het
Abca8a	A	T	11: 109,974,216 (GRCm39)	Y239*	probably null	Het
Aox3	T	C	1: 58,211,320 (GRCm39)	I959T	probably benign	Het
Atad2b	T	C	12: 5,068,002 (GRCm39)	V1000A	probably damaging	Het
Atic	C	T	1: 71,604,100 (GRCm39)	T221M	probably damaging	Het
Atp1a2	C	T	1: 172,116,942 (GRCm39)	R225H	probably damaging	Het
BC024139	A	G	15: 76,004,657 (GRCm39)		probably null	Het
Bpi	A	T	2: 158,113,974 (GRCm39)	T291S	probably damaging	Het
Ccdc170	C	T	10: 4,499,746 (GRCm39)	Q556*	probably null	Het
Cd3e	G	A	9: 44,920,661 (GRCm39)	L12F	probably benign	Het
Cdc42ep1	A	T	15: 78,731,649 (GRCm39)	R31S	probably damaging	Het
Cyp21a1	G	T	17: 35,023,110 (GRCm39)		probably null	Het
Dnase1l3	A	G	14: 7,974,115 (GRCm38)	M192T	probably damaging	Het
Dnmt1	A	T	9: 20,835,341 (GRCm39)	H330Q	possibly damaging	Het
Enah	T	C	1: 181,751,145 (GRCm39)	E232G	unknown	Het
Etnppl	C	T	3: 130,414,342 (GRCm39)	T73I	probably damaging	Het
Fam83b	T	A	9: 76,400,189 (GRCm39)	I305F	probably benign	Het
Galnt15	T	A	14: 31,780,116 (GRCm39)	I471N	probably damaging	Het
Gm19965	T	A	1: 116,750,021 (GRCm39)	N567K	probably benign	Het
Golga1	T	C	2: 38,924,080 (GRCm39)	Q435R	probably benign	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Hao1	T	G	2: 134,365,024 (GRCm39)	D201A	probably benign	Het
Heg1	T	C	16: 33,547,499 (GRCm39)	L786P	possibly damaging	Het
Hnrnpll	A	T	17: 80,357,303 (GRCm39)	C238S	possibly damaging	Het
Hrg	A	G	16: 22,779,742 (GRCm39)	Y340C	probably damaging	Het
Kyat3	A	T	3: 142,443,998 (GRCm39)	I411F	probably damaging	Het
Myo1a	T	C	10: 127,543,549 (GRCm39)	Y202H	probably damaging	Het
Nags	T	C	11: 102,037,337 (GRCm39)	C143R	possibly damaging	Het
Ncoa6	T	C	2: 155,263,076 (GRCm39)	N453D	probably damaging	Het
Nup35	G	T	2: 80,488,730 (GRCm39)	M322I	probably benign	Het
Oprl1	T	C	2: 181,357,721 (GRCm39)	V69A	probably damaging	Het
Or51v14	A	G	7: 103,261,128 (GRCm39)	L144P	probably benign	Het
Pappa2	T	A	1: 158,784,215 (GRCm39)	Y265F	probably damaging	Het
Pcsk6	C	T	7: 65,629,903 (GRCm39)	P343L	possibly damaging	Het
Peak1	C	A	9: 56,164,950 (GRCm39)	D993Y	probably damaging	Het
Polr2a	T	C	11: 69,627,758 (GRCm39)	Y1383C	probably damaging	Het
Ppme1	A	G	7: 99,990,272 (GRCm39)	S226P	probably damaging	Het
Prom1	C	T	5: 44,213,325 (GRCm39)	C127Y	probably damaging	Het
Ptpn6	A	T	6: 124,709,532 (GRCm39)		probably null	Het
Reln	T	C	5: 22,285,712 (GRCm39)	E419G	probably benign	Het
Rnf32	C	T	5: 29,430,266 (GRCm39)	Q362*	probably null	Het
Sbspon	T	C	1: 15,953,887 (GRCm39)	D131G	probably benign	Het
Scyl3	T	C	1: 163,776,783 (GRCm39)	S392P	probably benign	Het
Sin3a	A	G	9: 57,024,765 (GRCm39)	T1042A	probably benign	Het
Sipa1l2	A	T	8: 126,171,369 (GRCm39)	V1371D	probably damaging	Het
Slc20a2	T	C	8: 23,055,668 (GRCm39)	V584A	possibly damaging	Het
Smc6	T	A	12: 11,355,874 (GRCm39)		probably null	Het
Spata31h1	T	A	10: 82,124,731 (GRCm39)		probably benign	Het
Specc1	C	T	11: 62,047,418 (GRCm39)	T849I	possibly damaging	Het
Spta1	T	A	1: 174,041,734 (GRCm39)	L1368H	probably damaging	Het
Sqle	A	G	15: 59,187,959 (GRCm39)	E89G	possibly damaging	Het
Strbp	A	G	2: 37,493,020 (GRCm39)	V422A	probably damaging	Het
Sult6b1	G	T	17: 79,214,360 (GRCm39)	T21K	probably benign	Het
Tex15	A	G	8: 34,065,940 (GRCm39)	E1790G	probably damaging	Het
Tmem88b	T	A	4: 155,870,221 (GRCm39)		probably benign	Het
Traf3ip3	T	C	1: 192,864,318 (GRCm39)	D355G	possibly damaging	Het
Trim24	T	A	6: 37,930,484 (GRCm39)	V576E	probably benign	Het
Trim30c	C	T	7: 104,039,609 (GRCm39)	G62D	probably benign	Het
Trim66	T	G	7: 109,085,269 (GRCm39)	K100N	probably benign	Het
Tsnaxip1	A	T	8: 106,568,172 (GRCm39)	T313S	possibly damaging	Het
Ugt2b37	A	T	5: 87,390,279 (GRCm39)	I389N	probably damaging	Het
Unc13a	C	T	8: 72,094,097 (GRCm39)	V1335M	possibly damaging	Het
Urah	A	G	7: 140,415,124 (GRCm39)	T5A	probably benign	Het
Usp34	T	C	11: 23,388,914 (GRCm39)	Y2185H	probably damaging	Het
Usp44	T	C	10: 93,692,172 (GRCm39)	S643P	probably benign	Het
Vars2	A	G	17: 35,970,937 (GRCm39)	V631A	probably damaging	Het
Vmn2r11	G	A	5: 109,201,679 (GRCm39)	T275I	possibly damaging	Het
Vmn2r54	C	A	7: 12,349,420 (GRCm39)	V721F	probably damaging	Het
Vmn2r79	T	C	7: 86,651,498 (GRCm39)	I299T	probably benign	Het
Vps13d	T	C	4: 144,849,251 (GRCm39)	T2387A	probably damaging	Het
Washc5	A	T	15: 59,209,044 (GRCm39)	L610Q	probably benign	Het
Zbtb21	T	C	16: 97,751,568 (GRCm39)	E905G	probably damaging	Het
Zfhx4	A	G	3: 5,309,095 (GRCm39)	T774A	probably damaging	Het
Zfp534	T	C	4: 147,759,299 (GRCm39)	I457V	probably benign	Het
Zfp964	T	C	8: 70,111,994 (GRCm39)	Y29H	possibly damaging	Het
Znrf4	A	G	17: 56,818,702 (GRCm39)	F202L	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
IGL01880:Shtn1	APN	19	59,063,881 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TGTGCACATGTGTGTATAGGCAC -3'
(R):5'- TCCTACTGTGAATGTTACTGAGTATGC -3'

Sequencing Primer
(F):5'- ACAGGCATGTATATCCGTGC -3'
(R):5'- GTGAATGTTACTGAGTATGCAAGAC -3'

Posted On

2018-04-27