Mutagenetix > Incidental Mutations

Incidental Mutation 'R3552:Shtn1'

269027

Institutional Source

Beutler Lab

Gene Symbol

Shtn1

Ensembl Gene

ENSMUSG00000041362

Gene Name

shootin 1

Synonyms

4930506M07Rik, shootin1

MMRRC Submission

040669-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3552 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58973358-59076069 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58975038 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 615 (Y615C)

Ref Sequence

ENSEMBL: ENSMUSP00000041378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047511] [ENSMUST00000054280] [ENSMUST00000163821] [ENSMUST00000200910] [ENSMUST00000202382]

AlphaFold

Q8K2Q9

Predicted Effect

probably benign
Transcript: ENSMUST00000047511
AA Change: Y615C

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000041378
Gene: ENSMUSG00000041362
AA Change: Y615C

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: ENSMUST00000054280

SMART Domains

Protein: ENSMUSP00000062584
Gene: ENSMUSG00000048029

Domain	Start	End	E-Value	Type
Blast:Enolase_C	29	55	6e-8	BLAST
Enolase_N	69	264	1.06e-20	SMART
Enolase_C	276	585	7.85e-42	SMART

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

Predicted Effect

probably benign
Transcript: ENSMUST00000200910

SMART Domains

Protein: ENSMUSP00000144272
Gene: ENSMUSG00000048029

Domain	Start	End	E-Value	Type
Blast:Enolase_C	29	55	6e-8	BLAST
Enolase_N	68	263	1.06e-20	SMART
Enolase_C	275	584	7.85e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000201123

Predicted Effect

probably benign
Transcript: ENSMUST00000202382

SMART Domains

Protein: ENSMUSP00000144656
Gene: ENSMUSG00000048029

Domain	Start	End	E-Value	Type
Blast:Enolase_N	1	88	1e-22	BLAST
Enolase_C	100	409	2.1e-45	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.4%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	A	G	18: 38,258,365		probably benign	Het
Acaca	T	A	11: 84,261,624	Y866N	probably damaging	Het
Agk	A	G	6: 40,394,681	T371A	probably benign	Het
Akna	T	C	4: 63,398,124	M1V	probably null	Het
Aldh7a1	T	C	18: 56,550,292		probably null	Het
Ankrd26	A	T	6: 118,507,776	L1500H	probably damaging	Het
Atp13a5	T	A	16: 29,310,766	D452V	probably damaging	Het
Bahcc1	C	T	11: 120,276,772	T1333M	possibly damaging	Het
Carmil3	G	T	14: 55,507,402	R1276L	possibly damaging	Het
Ccni	T	C	5: 93,187,761	S173G	probably benign	Het
Chrm2	A	T	6: 36,523,810	I201F	probably damaging	Het
Col16a1	A	G	4: 130,077,041	T618A	probably benign	Het
Dock2	T	C	11: 34,720,960	Y192C	probably benign	Het
Ep400	T	A	5: 110,729,287	E821V	unknown	Het
Esrrg	G	A	1: 188,150,190	V215I	probably benign	Het
Evx1	A	T	6: 52,316,923	S359C	probably damaging	Het
Fcrls	A	G	3: 87,259,410	I92T	possibly damaging	Het
Gal3st1	T	A	11: 3,998,110	F106I	possibly damaging	Het
Gm9944	T	C	4: 144,453,043		probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hrc	G	C	7: 45,336,333	E303Q	possibly damaging	Het
Kcnh1	A	G	1: 192,238,766	N118D	probably damaging	Het
Khdrbs1	A	G	4: 129,720,791	I323T	possibly damaging	Het
Klhdc7b	T	C	15: 89,387,521	Y869H	probably benign	Het
Lrrc4c	T	A	2: 97,629,961	W311R	probably damaging	Het
Megf11	A	G	9: 64,695,463	D862G	possibly damaging	Het
Muc5b	A	G	7: 141,861,335	T2673A	possibly damaging	Het
Muc5b	A	G	7: 141,867,705	S4311G	probably benign	Het
Myo15	C	T	11: 60,509,663	A1767V	possibly damaging	Het
Neo1	T	A	9: 58,893,878	K1140M	probably damaging	Het
Oc90	T	C	15: 65,878,801	Q365R	possibly damaging	Het
Olfr1012	T	C	2: 85,759,893	N161S	possibly damaging	Het
Olfr378	T	C	11: 73,425,852	I44V	probably benign	Het
Olfr48	A	C	2: 89,844,343	M210R	possibly damaging	Het
Oplah	C	T	15: 76,302,094	D734N	possibly damaging	Het
Pbx1	G	A	1: 168,158,793	P411L	possibly damaging	Het
Pcdhga6	G	T	18: 37,708,217	R330L	probably benign	Het
Phox2b	C	A	5: 67,097,656	R150L	probably damaging	Het
Plscr2	A	G	9: 92,290,795	E169G	probably damaging	Het
Ptprn2	A	T	12: 116,888,877	Q518L	probably benign	Het
Rbl1	A	T	2: 157,195,585	I214K	probably benign	Het
Ryr1	T	A	7: 29,056,997	Q3464L	probably damaging	Het
Ryr3	T	A	2: 112,751,787	I2854F	probably damaging	Het
Sirt5	A	T	13: 43,383,167	N226Y	probably damaging	Het
Slc30a3	G	A	5: 31,095,078		probably benign	Het
Slc5a4b	A	G	10: 76,081,524	V226A	probably damaging	Het
Slf2	C	A	19: 44,934,951	S68*	probably null	Het
Smyd5	G	A	6: 85,442,211	E292K	probably damaging	Het
Spns1	A	G	7: 126,370,371	V512A	possibly damaging	Het
Sry	T	A	Y: 2,663,141	Q173L	unknown	Het
Ssrp1	C	A	2: 85,044,392	Q519K	probably benign	Het
Tgfbr3	T	C	5: 107,139,839	E498G	probably damaging	Het
Tnrc6b	T	G	15: 80,880,247	L650W	probably damaging	Het
Tnxb	A	T	17: 34,718,721	E3861D	probably damaging	Het
Trbc1	G	T	6: 41,539,645		probably benign	Het
Trpm7	T	A	2: 126,826,710		probably benign	Het
Usp39	G	A	6: 72,337,832	T197I	possibly damaging	Het
Vmn1r38	T	C	6: 66,776,493	H213R	possibly damaging	Het
Washc2	A	G	6: 116,220,568	D168G	probably damaging	Het
Washc4	A	G	10: 83,546,856	I45V	probably benign	Het
Zfp352	A	G	4: 90,225,102	E493G	probably benign	Het
Zfp692	C	T	11: 58,309,428	T170I	possibly damaging	Het
Zfp735	C	A	11: 73,711,241	S337*	probably null	Het

Other mutations in Shtn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00945:Shtn1	APN	19	59018952	missense	possibly damaging	0.56
IGL01619:Shtn1	APN	19	59028169	missense	probably damaging	0.99
IGL01880:Shtn1	APN	19	59075449	splice site	probably benign
IGL02214:Shtn1	APN	19	58999886	splice site	probably benign
IGL03400:Shtn1	APN	19	59032258	splice site	probably benign
R0011:Shtn1	UTSW	19	59032218	missense	possibly damaging	0.72
R0011:Shtn1	UTSW	19	59032218	missense	possibly damaging	0.72
R0299:Shtn1	UTSW	19	59018951	missense	probably benign	0.00
R0606:Shtn1	UTSW	19	58999940	missense	probably damaging	0.99
R1081:Shtn1	UTSW	19	58975015	missense	probably benign	0.04
R1212:Shtn1	UTSW	19	59050890	missense	probably damaging	1.00
R1677:Shtn1	UTSW	19	59009790	missense	probably damaging	1.00
R1791:Shtn1	UTSW	19	59032200	missense	probably damaging	0.99
R1966:Shtn1	UTSW	19	58975038	missense	probably benign
R3076:Shtn1	UTSW	19	58995086	missense	probably damaging	1.00
R3736:Shtn1	UTSW	19	59022268	missense	probably benign
R4615:Shtn1	UTSW	19	59022216	missense	probably benign	0.18
R4789:Shtn1	UTSW	19	59050873	missense	probably damaging	0.99
R4791:Shtn1	UTSW	19	59050873	missense	probably damaging	0.99
R4792:Shtn1	UTSW	19	59050873	missense	probably damaging	0.99
R4939:Shtn1	UTSW	19	59022201	missense	probably benign	0.00
R5245:Shtn1	UTSW	19	59032220	missense	possibly damaging	0.90
R5387:Shtn1	UTSW	19	59038369	missense	probably damaging	1.00
R5813:Shtn1	UTSW	19	59032241	missense	probably damaging	1.00
R6013:Shtn1	UTSW	19	58975101	missense	probably damaging	1.00
R6374:Shtn1	UTSW	19	59038296	missense	possibly damaging	0.94
R7030:Shtn1	UTSW	19	59009834	missense	possibly damaging	0.74
R7143:Shtn1	UTSW	19	59018906	missense	probably damaging	0.99
R7487:Shtn1	UTSW	19	59003860	missense	probably damaging	0.99
R7496:Shtn1	UTSW	19	59028184	missense	probably damaging	1.00
R7889:Shtn1	UTSW	19	59003896	missense	probably damaging	0.99
R8209:Shtn1	UTSW	19	59003896	missense	possibly damaging	0.86
R8226:Shtn1	UTSW	19	59003896	missense	possibly damaging	0.86
R8290:Shtn1	UTSW	19	58999894	missense	probably damaging	1.00
R8857:Shtn1	UTSW	19	58990368	missense	probably damaging	1.00
R9289:Shtn1	UTSW	19	59009825	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACTACCCAGAAGATGCATTTTGC -3'
(R):5'- CCTCCCAGTAAAGGTGGATAC -3'

Sequencing Primer
(F):5'- CCCAGAAGATGCATTTTGCTAAACAG -3'
(R):5'- TACAGGAGAAAATGTGTGGGC -3'

Posted On

2015-02-19