Mutagenetix > Incidental Mutation

Incidental Mutation 'R5387:Shtn1'

425380

Institutional Source

Beutler Lab

Gene Symbol

Shtn1

Ensembl Gene

ENSMUSG00000041362

Gene Name

shootin 1

Synonyms

shootin1, 4930506M07Rik

MMRRC Submission

042959-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5387 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58961788-59064532 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 59026801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 97 (L97M)

Ref Sequence

ENSEMBL: ENSMUSP00000126227 (fasta)

Gene Model

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

AlphaFold

Q8K2Q9

Predicted Effect

probably damaging
Transcript: ENSMUST00000047511
AA Change: L97M

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

SMART Domains

Protein: ENSMUSP00000041378
Gene: ENSMUSG00000041362
AA Change: L97M

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: L97M

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

SMART Domains

Protein: ENSMUSP00000126227
Gene: ENSMUSG00000041362
AA Change: L97M

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,408,092 (GRCm39)	S140T	probably benign	Het
Ahnak	T	C	19: 8,981,055 (GRCm39)	S780P	probably damaging	Het
Ankhd1	C	A	18: 36,767,697 (GRCm39)	H1205N	probably damaging	Het
Ano1	T	C	7: 144,202,356 (GRCm39)	K139R	probably benign	Het
Anp32b	T	G	4: 46,468,573 (GRCm39)	C114W	probably damaging	Het
Ascl1	C	T	10: 87,328,551 (GRCm39)	A134T	probably damaging	Het
Atl2	C	T	17: 80,160,229 (GRCm39)	E453K	probably benign	Het
Aup1	C	T	6: 83,032,005 (GRCm39)	A84V	probably damaging	Het
Btbd7	A	T	12: 102,804,044 (GRCm39)	M332K	probably damaging	Het
Cacna1d	A	G	14: 29,822,708 (GRCm39)	V1107A	probably damaging	Het
Cd33	G	A	7: 43,181,477 (GRCm39)	Q114*	probably null	Het
Cdhr18	C	A	14: 13,914,438 (GRCm38)	M1I	probably null	Het
Col4a4	C	T	1: 82,471,312 (GRCm39)	G681E	unknown	Het
Defb22	C	A	2: 152,327,826 (GRCm39)	A120S	unknown	Het
Dnah7b	A	G	1: 46,227,819 (GRCm39)	I1347M	probably damaging	Het
Efcab5	A	G	11: 77,025,668 (GRCm39)	I549T	possibly damaging	Het
Esp15	T	A	17: 39,955,468 (GRCm39)		probably null	Het
Fbxo7	A	G	10: 85,860,518 (GRCm39)	T42A	probably benign	Het
Filip1	A	G	9: 79,725,556 (GRCm39)	I1021T	probably benign	Het
Gad1	C	A	2: 70,394,195 (GRCm39)	S7*	probably null	Het
H2ac7	T	A	13: 23,758,841 (GRCm39)		probably null	Het
H2-Q7	C	T	17: 35,658,518 (GRCm39)	T52M	probably damaging	Het
H2-T3	C	T	17: 36,497,594 (GRCm39)	G28R	probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ift81	A	G	5: 122,693,598 (GRCm39)	Y604H	probably damaging	Het
Igsf11	A	G	16: 38,842,785 (GRCm39)	Y154C	probably damaging	Het
Kif26b	G	T	1: 178,742,441 (GRCm39)	A846S	probably benign	Het
Lnx2	G	A	5: 146,964,964 (GRCm39)	P420S	probably benign	Het
Lrit2	A	G	14: 36,794,216 (GRCm39)	T427A	probably damaging	Het
Lrrc43	G	T	5: 123,637,734 (GRCm39)		probably null	Het
Mettl25b	A	T	3: 87,837,318 (GRCm39)		probably benign	Het
Mug1	T	C	6: 121,861,353 (GRCm39)	Y1325H	probably damaging	Het
Naglu	A	T	11: 100,967,550 (GRCm39)	Y500F	probably damaging	Het
Npy4r	A	G	14: 33,868,940 (GRCm39)	M116T	probably benign	Het
Nrdc	A	G	4: 108,896,959 (GRCm39)	Y526C	probably damaging	Het
Nrp2	T	C	1: 62,801,972 (GRCm39)	S472P	probably benign	Het
Or12d2	T	A	17: 37,625,183 (GRCm39)	T31S	probably benign	Het
Or12k8	T	C	2: 36,975,731 (GRCm39)	T10A	possibly damaging	Het
Otogl	T	A	10: 107,616,794 (GRCm39)	T1828S	probably benign	Het
Pank2	C	T	2: 131,116,182 (GRCm39)	T200I	probably benign	Het
Pbrm1	A	G	14: 30,804,567 (GRCm39)	Y946C	probably damaging	Het
Pde12	A	T	14: 26,387,608 (GRCm39)	S437T	probably benign	Het
Pikfyve	A	G	1: 65,304,427 (GRCm39)	K1710E	possibly damaging	Het
Plcd3	A	G	11: 102,969,281 (GRCm39)	S229P	probably damaging	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Prkaa2	C	A	4: 104,897,374 (GRCm39)	D280Y	probably damaging	Het
Ptprg	T	A	14: 12,153,873 (GRCm38)	S531R	probably damaging	Het
R3hdm2	T	C	10: 127,321,303 (GRCm39)	S620P	probably damaging	Het
Rab33b	A	G	3: 51,400,876 (GRCm39)	T117A	probably damaging	Het
Rasal2	T	C	1: 156,985,335 (GRCm39)	D804G	possibly damaging	Het
Rbp3	A	G	14: 33,678,370 (GRCm39)	T773A	possibly damaging	Het
Rspry1	A	G	8: 95,364,914 (GRCm39)	T185A	possibly damaging	Het
Sec61a2	G	T	2: 5,887,356 (GRCm39)		probably benign	Het
Setx	C	T	2: 29,037,606 (GRCm39)	R1364C	probably benign	Het
Slc35f1	T	C	10: 52,984,260 (GRCm39)	L340P	probably damaging	Het
Slc45a1	T	A	4: 150,728,366 (GRCm39)		probably benign	Het
Slmap	T	C	14: 26,181,088 (GRCm39)	E386G	probably benign	Het
Smc2	C	T	4: 52,475,096 (GRCm39)	A924V	probably benign	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Tecta	G	A	9: 42,286,359 (GRCm39)	L766F	probably damaging	Het
Tle3	C	T	9: 61,314,771 (GRCm39)		probably null	Het
Top3a	A	G	11: 60,653,316 (GRCm39)	F53L	probably damaging	Het
Trappc2b	A	T	11: 51,576,801 (GRCm39)	D32E	probably benign	Het
Trem1	T	C	17: 48,548,541 (GRCm39)	I26T	possibly damaging	Het
Ttc7b	G	T	12: 100,413,222 (GRCm39)	Q199K	possibly damaging	Het
Ubap2l	T	C	3: 89,913,903 (GRCm39)	Y975C	probably benign	Het
Ubxn11	C	A	4: 133,850,737 (GRCm39)	D196E	probably damaging	Het
Unc80	A	G	1: 66,569,180 (GRCm39)	H945R	possibly damaging	Het
Usp15	A	G	10: 122,967,191 (GRCm39)	I405T	probably damaging	Het
Uty	C	T	Y: 1,189,339 (GRCm39)	E138K	probably damaging	Het
Wapl	A	G	14: 34,399,252 (GRCm39)	E107G	probably benign	Het
Wbp1l	T	C	19: 46,632,896 (GRCm39)		probably null	Het
Zfp184	T	G	13: 22,133,810 (GRCm39)		probably benign	Het
Zfp36	A	C	7: 28,077,293 (GRCm39)	L205R	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- ACTCAGTCGCAACACTGGAG -3'
(R):5'- CTGTAATTCAAGATGAGGCATCAC -3'

Sequencing Primer
(F):5'- AACACTGGAGTCCCACCTTTG -3'
(R):5'- AATTCAAGATGAGGCATCACTTATAG -3'

Posted On

2016-08-04