Mutagenetix > Incidental Mutation

Incidental Mutation 'R9289:Shtn1'

704177

Institutional Source

Beutler Lab

Gene Symbol

Shtn1

Ensembl Gene

ENSMUSG00000041362

Gene Name

shootin 1

Synonyms

shootin1, 4930506M07Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9289 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58961788-59064532 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58998257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 379 (K379E)

Ref Sequence

ENSEMBL: ENSMUSP00000041378 (fasta)

Gene Model

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

AlphaFold

Q8K2Q9

Predicted Effect

probably damaging
Transcript: ENSMUST00000047511
AA Change: K379E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041378
Gene: ENSMUSG00000041362
AA Change: K379E

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 damaging
Transcript: ENSMUST00000163821
AA Change: K379E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126227
Gene: ENSMUSG00000041362
AA Change: K379E

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	C	T	5: 144,982,333 (GRCm39)	T306I	probably benign	Het
Aurkb	T	C	11: 68,941,175 (GRCm39)	I250T	probably damaging	Het
C1qtnf1	A	G	11: 118,334,672 (GRCm39)	T51A	probably benign	Het
C1rb	G	T	6: 124,552,272 (GRCm39)	R330L	possibly damaging	Het
Cd8b1	G	A	6: 71,306,777 (GRCm39)		probably null	Het
Cep57l1	A	T	10: 41,607,082 (GRCm39)	D160E	probably damaging	Het
Ces1f	C	T	8: 93,992,491 (GRCm39)	S320N	probably benign	Het
Cfap54	A	G	10: 92,656,936 (GRCm39)	S3039P	possibly damaging	Het
Chia1	A	T	3: 106,022,502 (GRCm39)		probably benign	Het
Chka	T	G	19: 3,935,953 (GRCm39)	F220V	possibly damaging	Het
Cmtm2b	A	G	8: 105,048,980 (GRCm39)		probably benign	Het
Dgcr8	C	T	16: 18,098,079 (GRCm39)		probably benign	Het
Dhx30	T	C	9: 109,920,603 (GRCm39)	T304A	possibly damaging	Het
Dhx30	A	T	9: 109,922,189 (GRCm39)	D164E	probably benign	Het
Dip2b	A	T	15: 100,071,152 (GRCm39)	K661I	probably damaging	Het
Dlgap4	G	T	2: 156,546,514 (GRCm39)	R394L	possibly damaging	Het
Dop1b	T	A	16: 93,568,681 (GRCm39)	L1581H	probably damaging	Het
Fam219a	C	A	4: 41,521,942 (GRCm39)	G46V	probably damaging	Het
Fer1l6	G	A	15: 58,490,766 (GRCm39)	V1028M	probably damaging	Het
Glb1	C	A	9: 114,249,558 (GRCm39)	A129E	probably damaging	Het
Heatr1	T	C	13: 12,447,608 (GRCm39)	V1767A	probably benign	Het
Ift88	T	A	14: 57,718,199 (GRCm39)	S591T	probably benign	Het
Itgb4	A	G	11: 115,885,187 (GRCm39)	K1023R	probably benign	Het
Mfng	C	A	15: 78,643,457 (GRCm39)	S250I	probably damaging	Het
Mmp9	A	G	2: 164,796,800 (GRCm39)	T723A	probably benign	Het
Mzf1	T	A	7: 12,785,534 (GRCm39)	H299L	probably benign	Het
Naa40	T	C	19: 7,211,485 (GRCm39)	K47E	possibly damaging	Het
Ncdn	A	C	4: 126,643,903 (GRCm39)	F306L	possibly damaging	Het
Notch3	A	G	17: 32,377,254 (GRCm39)	C246R	probably damaging	Het
Npc1l1	A	T	11: 6,168,355 (GRCm39)	Y945*	probably null	Het
Or2av9	T	A	11: 58,380,745 (GRCm39)	I279L	probably benign	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or2y14	C	T	11: 49,404,635 (GRCm39)	P57S	probably damaging	Het
Or52n5	T	C	7: 104,587,816 (GRCm39)	W28R	probably damaging	Het
Pcnx1	C	A	12: 82,028,853 (GRCm39)	D1044E		Het
Pgm2l1	T	A	7: 99,919,629 (GRCm39)	I575K	probably damaging	Het
Plat	T	C	8: 23,272,100 (GRCm39)	I553T	probably damaging	Het
Prrc2c	A	G	1: 162,507,130 (GRCm39)	V2513A	probably benign	Het
Qser1	A	T	2: 104,617,593 (GRCm39)	V983E	possibly damaging	Het
Ring1	A	G	17: 34,241,547 (GRCm39)	S190P	possibly damaging	Het
Rnf150	A	G	8: 83,716,982 (GRCm39)	E163G	probably benign	Het
Scgb2b12	T	C	7: 32,026,060 (GRCm39)	H44R	probably benign	Het
Septin4	T	A	11: 87,459,792 (GRCm39)	C513*	probably null	Het
Slc52a2	G	T	15: 76,424,475 (GRCm39)	V238L	probably benign	Het
Smg1	T	C	7: 117,744,639 (GRCm39)	H3171R	possibly damaging	Het
Tada3	A	G	6: 113,347,264 (GRCm39)	V342A	possibly damaging	Het
Tbc1d20	T	C	2: 152,153,262 (GRCm39)	V264A	probably damaging	Het
Tmco5	G	A	2: 116,710,745 (GRCm39)	A22T	probably benign	Het
Tmem63b	A	G	17: 45,975,697 (GRCm39)	F549S	probably benign	Het
Trav16d-dv11	T	C	14: 53,285,086 (GRCm39)	F54S	probably benign	Het
Trim7	A	T	11: 48,736,281 (GRCm39)	K5*	probably null	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Zfp78	T	C	7: 6,381,367 (GRCm39)	I139T	probably benign	Het
Zfp839	T	A	12: 110,834,878 (GRCm39)	V711D	probably benign	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
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
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'- GTCAATGCCCATCCTTCTGG -3'
(R):5'- TCCTTGCCTGTAAACTGATGAAGAC -3'

Sequencing Primer
(F):5'- ATCCTTCTGGAAGTTCAAAGGTCCG -3'
(R):5'- GCCTGTAAACTGATGAAGACCATAAC -3'

Posted On

2022-03-25