Mutagenetix > Incidental Mutation

Incidental Mutation 'R2091:Sntg1'

500531

Institutional Source

Beutler Lab

Gene Symbol

Sntg1

Ensembl Gene

ENSMUSG00000025909

Gene Name

syntrophin, gamma 1

Synonyms

G1SYN, SYN4

MMRRC Submission

040096-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R2091 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8431699-9370103 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8665763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 184 (T184S)

Ref Sequence

ENSEMBL: ENSMUSP00000141839 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115488] [ENSMUST00000132064] [ENSMUST00000140295] [ENSMUST00000140302] [ENSMUST00000191683]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000115488
AA Change: T185S

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000111151
Gene: ENSMUSG00000025909
AA Change: T185S

Domain	Start	End	E-Value	Type
Blast:Tubulin_C	6	54	3e-20	BLAST
PDZ	66	140	3.41e-17	SMART
PH	180	266	8.91e0	SMART
PH	284	392	7.66e-1	SMART
low complexity region	440	449	N/A	INTRINSIC
low complexity region	499	514	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132064
AA Change: T184S

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000122134
Gene: ENSMUSG00000025909
AA Change: T184S

Domain	Start	End	E-Value	Type
Blast:Tubulin_C	6	54	3e-20	BLAST
PDZ	66	139	1.84e-13	SMART
PH	179	265	8.91e0	SMART
PH	283	391	7.66e-1	SMART
low complexity region	439	448	N/A	INTRINSIC
low complexity region	498	513	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140295
AA Change: T185S

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000118101
Gene: ENSMUSG00000025909
AA Change: T185S

Domain	Start	End	E-Value	Type
Blast:Tubulin_C	17	65	3e-20	BLAST
PDZ	77	150	1.84e-13	SMART
PH	190	276	8.91e0	SMART
PH	294	402	7.66e-1	SMART
low complexity region	450	459	N/A	INTRINSIC
low complexity region	509	524	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140302

SMART Domains

Protein: ENSMUSP00000117397
Gene: ENSMUSG00000025909

Domain	Start	End	E-Value	Type
PDZ	66	140	3.41e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000191683
AA Change: T184S

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000141839
Gene: ENSMUSG00000025909
AA Change: T184S

Domain	Start	End	E-Value	Type
Blast:Tubulin_C	6	54	3e-20	BLAST
PDZ	66	139	1.84e-13	SMART
PH	179	265	8.91e0	SMART
PH	283	391	7.66e-1	SMART
low complexity region	439	448	N/A	INTRINSIC
low complexity region	498	513	N/A	INTRINSIC

Meta Mutation Damage Score

0.0902

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

96% (55/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that typically contain 2 pleckstrin homology (PH) domains, a PDZ domain that bisects the first PH domain, and a C-terminal domain that mediates dystrophin binding. This family member plays a role in mediating gamma-enolase trafficking to the plasma membrane and in enhancing its neurotrophic activity. Mutations in this gene are associated with idiopathic scoliosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	G	C	2: 19,522,357 (GRCm39)	N247K	probably damaging	Het
4930402F06Rik	T	C	2: 35,266,079 (GRCm39)	K197R	probably benign	Het
AA986860	T	C	1: 130,670,906 (GRCm39)	L376P	probably benign	Het
Adamts10	T	C	17: 33,770,166 (GRCm39)		probably null	Het
Adamts7	T	C	9: 90,070,493 (GRCm39)		probably null	Het
Adgrl1	T	C	8: 84,661,093 (GRCm39)	I862T	probably damaging	Het
Agbl1	G	A	7: 76,239,248 (GRCm39)	V583M	probably damaging	Het
Apba2	T	A	7: 64,345,341 (GRCm39)	V177D	probably benign	Het
Arfgap2	A	G	2: 91,100,586 (GRCm39)	K297R	probably benign	Het
Armh3	A	T	19: 45,941,119 (GRCm39)	L300Q	probably damaging	Het
Atg14	A	T	14: 47,780,352 (GRCm39)	I474N	probably damaging	Het
Atp2b4	C	A	1: 133,642,968 (GRCm39)	V1046F	probably benign	Het
Best1	A	G	19: 9,969,443 (GRCm39)	V205A	probably benign	Het
Bicdl1	A	G	5: 115,862,638 (GRCm39)	S206P	probably damaging	Het
Bltp1	T	C	3: 37,008,119 (GRCm39)	V1725A	probably damaging	Het
Bltp1	C	T	3: 37,042,405 (GRCm39)	T2797I	probably damaging	Het
Cacna1h	C	T	17: 25,651,850 (GRCm39)	C98Y	possibly damaging	Het
Calhm3	T	A	19: 47,140,430 (GRCm39)	D221V	probably damaging	Het
Ccdc93	T	A	1: 121,411,071 (GRCm39)		probably null	Het
Cd248	A	T	19: 5,120,074 (GRCm39)	I641F	possibly damaging	Het
Chrnb3	C	T	8: 27,884,262 (GRCm39)	T333M	probably damaging	Het
Cyb5rl	A	G	4: 106,928,203 (GRCm39)	H113R	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Ddx59	T	A	1: 136,344,447 (GRCm39)	D39E	probably benign	Het
Defa5	A	G	8: 21,787,513 (GRCm39)	D20G	probably damaging	Het
Dido1	A	T	2: 180,303,677 (GRCm39)	V1409E	probably benign	Het
Dlc1	A	T	8: 37,404,763 (GRCm39)	V342E	probably benign	Het
Dsc2	G	A	18: 20,166,351 (GRCm39)	T760I	possibly damaging	Het
Dync1h1	A	G	12: 110,616,022 (GRCm39)	I3057V	probably benign	Het
Etnk2	T	G	1: 133,304,791 (GRCm39)		probably null	Het
Fbp2	G	T	13: 63,006,021 (GRCm39)	L31I	probably damaging	Het
Gbp7	A	T	3: 142,240,383 (GRCm39)	I34F	probably damaging	Het
Gcfc2	A	G	6: 81,920,460 (GRCm39)	E415G	probably damaging	Het
Glp1r	T	C	17: 31,144,523 (GRCm39)	L232P	probably damaging	Het
Gm10822	A	G	2: 73,729,619 (GRCm39)		noncoding transcript	Het
Gm42669	G	A	5: 107,655,776 (GRCm39)	V1192M	probably benign	Het
Gpr37	A	G	6: 25,689,062 (GRCm39)	S12P	possibly damaging	Het
Gpt	A	G	15: 76,582,176 (GRCm39)	E211G	possibly damaging	Het
Grxcr1	T	C	5: 68,267,755 (GRCm39)	I168T	probably damaging	Het
Hat1	T	C	2: 71,264,378 (GRCm39)	V272A	probably benign	Het
Igkv8-30	A	C	6: 70,094,070 (GRCm39)	C114G	probably damaging	Het
Kcne4	T	C	1: 78,795,624 (GRCm39)	S91P	probably benign	Het
Kif5b	G	A	18: 6,213,248 (GRCm39)	Q715*	probably null	Het
Lamb1	T	A	12: 31,337,428 (GRCm39)	N386K	probably damaging	Het
Lcmt2	T	C	2: 120,969,097 (GRCm39)	N662S	probably damaging	Het
Lnx1	G	T	5: 74,780,727 (GRCm39)	H324N	probably benign	Het
Lrrc4	T	G	6: 28,830,586 (GRCm39)	D343A	probably benign	Het
Mars1	A	G	10: 127,135,154 (GRCm39)	S646P	probably damaging	Het
Mboat7	T	C	7: 3,687,010 (GRCm39)		probably benign	Het
Mlip	C	T	9: 77,072,145 (GRCm39)	V341I	possibly damaging	Het
Mterf1b	A	T	5: 4,247,057 (GRCm39)	T233S	possibly damaging	Het
Myo3a	A	T	2: 22,338,488 (GRCm39)	H442L	probably damaging	Het
Myrf	A	T	19: 10,201,964 (GRCm39)	V171D	possibly damaging	Het
Nbas	G	A	12: 13,411,046 (GRCm39)	D897N	probably benign	Het
Nfx1	T	C	4: 40,977,004 (GRCm39)	V226A	probably benign	Het
Nlrp4a	T	C	7: 26,149,578 (GRCm39)	L395P	probably damaging	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Nsun6	A	G	2: 15,044,542 (GRCm39)		probably null	Het
Ntrk2	A	G	13: 59,007,115 (GRCm39)	H239R	possibly damaging	Het
Or10g9	T	C	9: 39,912,500 (GRCm39)	T8A	probably benign	Het
Or4k51	A	T	2: 111,584,731 (GRCm39)	M46L	probably benign	Het
Or5aq7	T	C	2: 86,938,606 (GRCm39)	N42D	probably damaging	Het
Or5p70	A	G	7: 107,995,068 (GRCm39)	H247R	probably damaging	Het
Pate4	C	A	9: 35,519,553 (GRCm39)	A46S	possibly damaging	Het
Pcdhb18	T	C	18: 37,623,653 (GRCm39)	S328P	probably damaging	Het
Pdk4	A	G	6: 5,494,857 (GRCm39)		probably benign	Het
Pigm	T	C	1: 172,205,100 (GRCm39)	Y279H	probably damaging	Het
Plaat3	A	G	19: 7,556,474 (GRCm39)	I92V	probably damaging	Het
Plxdc2	A	G	2: 16,718,494 (GRCm39)	I379M	probably damaging	Het
Ppp1r35	A	G	5: 137,778,156 (GRCm39)	N217S	possibly damaging	Het
Prex1	G	A	2: 166,411,285 (GRCm39)	T1438I	possibly damaging	Het
Ptger4	T	A	15: 5,272,326 (GRCm39)	I98F	possibly damaging	Het
Rasl11a	T	A	5: 146,783,927 (GRCm39)	I124N	probably damaging	Het
Rest	A	G	5: 77,429,126 (GRCm39)	K515R	possibly damaging	Het
Ryr1	A	G	7: 28,785,474 (GRCm39)	L1746P	probably damaging	Het
Ryr2	G	T	13: 11,960,863 (GRCm39)	T25K	probably benign	Het
Sacs	A	T	14: 61,429,368 (GRCm39)	I476L	possibly damaging	Het
Serpina3g	A	T	12: 104,205,417 (GRCm39)	D52V	probably damaging	Het
Skint6	T	C	4: 112,703,881 (GRCm39)	N998S	probably benign	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Slc10a4	G	A	5: 73,174,482 (GRCm39)		probably benign	Het
Slc24a2	G	T	4: 86,929,883 (GRCm39)	P538T	probably damaging	Het
Ssbp1	A	G	6: 40,453,433 (GRCm39)	Y73C	probably null	Het
St18	G	A	1: 6,898,195 (GRCm39)	V666M	probably benign	Het
Suclg1	A	G	6: 73,241,259 (GRCm39)	K193R	probably benign	Het
Tcp11l1	T	C	2: 104,514,484 (GRCm39)	I428V	possibly damaging	Het
Th	T	A	7: 142,449,280 (GRCm39)	D275V	probably damaging	Het
Tnrc18	A	C	5: 142,759,396 (GRCm39)	S813R	unknown	Het
Tnrc6a	T	C	7: 122,771,343 (GRCm39)		probably null	Het
Trap1	A	C	16: 3,863,903 (GRCm39)	Y472*	probably null	Het
Trdv1	C	A	14: 54,119,626 (GRCm39)	Q96K	probably benign	Het
Trpm8	T	C	1: 88,271,048 (GRCm39)	I446T	probably damaging	Het
Tti2	T	C	8: 31,644,294 (GRCm39)	L297P	probably damaging	Het
Ttn	C	T	2: 76,565,355 (GRCm39)	G26545R	probably damaging	Het
Ttn	T	C	2: 76,587,488 (GRCm39)	D13208G	probably damaging	Het
Tubb3	A	G	8: 124,148,417 (GRCm39)		probably null	Het
Umodl1	A	G	17: 31,190,893 (GRCm39)	M247V	probably benign	Het
Wrn	T	A	8: 33,757,853 (GRCm39)	H812L	probably benign	Het
Zfp174	A	G	16: 3,672,506 (GRCm39)	R352G	possibly damaging	Het
Zfp955a	T	A	17: 33,461,731 (GRCm39)	K134*	probably null	Het

Other mutations in Sntg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00896:Sntg1	APN	1	8,665,634 (GRCm39)	critical splice donor site	probably null
IGL01536:Sntg1	APN	1	8,653,424 (GRCm39)	splice site	probably null
IGL01558:Sntg1	APN	1	8,533,612 (GRCm39)	splice site	probably benign
IGL01649:Sntg1	APN	1	8,752,193 (GRCm39)	splice site	probably benign
IGL02230:Sntg1	APN	1	8,752,195 (GRCm39)	critical splice donor site	probably null
IGL02252:Sntg1	APN	1	8,484,452 (GRCm39)	missense	probably benign	0.00
IGL02804:Sntg1	APN	1	8,874,182 (GRCm39)	utr 5 prime	probably benign
IGL03165:Sntg1	APN	1	8,515,328 (GRCm39)	missense	probably damaging	1.00
IGL03400:Sntg1	APN	1	8,533,638 (GRCm39)	missense	probably damaging	0.98
R0013:Sntg1	UTSW	1	8,533,686 (GRCm39)	missense	probably damaging	1.00
R0079:Sntg1	UTSW	1	8,749,286 (GRCm39)	splice site	probably benign
R0379:Sntg1	UTSW	1	8,853,048 (GRCm39)	missense	probably damaging	1.00
R0551:Sntg1	UTSW	1	8,624,960 (GRCm39)	missense	possibly damaging	0.73
R1081:Sntg1	UTSW	1	8,515,343 (GRCm39)	missense	possibly damaging	0.92
R1645:Sntg1	UTSW	1	8,874,155 (GRCm39)	missense	probably benign	0.06
R2089:Sntg1	UTSW	1	8,665,763 (GRCm39)	missense	probably benign	0.04
R2091:Sntg1	UTSW	1	8,665,763 (GRCm39)	missense	probably benign	0.04
R3951:Sntg1	UTSW	1	8,853,125 (GRCm39)	splice site	probably benign
R4152:Sntg1	UTSW	1	8,653,569 (GRCm39)	splice site	probably null
R4153:Sntg1	UTSW	1	8,653,569 (GRCm39)	splice site	probably null
R4154:Sntg1	UTSW	1	8,653,569 (GRCm39)	splice site	probably null
R4847:Sntg1	UTSW	1	8,665,706 (GRCm39)	missense	possibly damaging	0.93
R4888:Sntg1	UTSW	1	8,433,818 (GRCm39)	missense	probably damaging	0.98
R4947:Sntg1	UTSW	1	8,853,022 (GRCm39)	missense	probably damaging	1.00
R5065:Sntg1	UTSW	1	8,433,663 (GRCm39)	utr 3 prime	probably benign
R5293:Sntg1	UTSW	1	8,665,757 (GRCm39)	missense	probably damaging	1.00
R5550:Sntg1	UTSW	1	8,695,008 (GRCm39)	missense	probably damaging	1.00
R5558:Sntg1	UTSW	1	8,484,495 (GRCm39)	missense	possibly damaging	0.94
R5687:Sntg1	UTSW	1	8,533,667 (GRCm39)	missense	possibly damaging	0.94
R5759:Sntg1	UTSW	1	8,484,494 (GRCm39)	missense	probably benign	0.00
R6075:Sntg1	UTSW	1	8,749,338 (GRCm39)	makesense	probably null
R6266:Sntg1	UTSW	1	8,624,953 (GRCm39)	missense	possibly damaging	0.56
R6313:Sntg1	UTSW	1	8,515,248 (GRCm39)	splice site	probably null
R6345:Sntg1	UTSW	1	8,653,508 (GRCm39)	missense	possibly damaging	0.85
R6490:Sntg1	UTSW	1	8,653,508 (GRCm39)	missense	possibly damaging	0.85
R6571:Sntg1	UTSW	1	8,433,752 (GRCm39)	utr 3 prime	probably benign
R6736:Sntg1	UTSW	1	8,515,274 (GRCm39)	missense	probably benign	0.16
R7112:Sntg1	UTSW	1	8,518,289 (GRCm39)	missense	possibly damaging	0.93
R7266:Sntg1	UTSW	1	8,752,243 (GRCm39)	missense	possibly damaging	0.81
R7414:Sntg1	UTSW	1	8,518,289 (GRCm39)	missense	probably damaging	1.00
R7583:Sntg1	UTSW	1	8,515,249 (GRCm39)	critical splice donor site	probably null
R7892:Sntg1	UTSW	1	8,853,024 (GRCm39)	missense	probably damaging	1.00
R7961:Sntg1	UTSW	1	8,433,794 (GRCm39)	missense	probably damaging	0.96
R7968:Sntg1	UTSW	1	8,535,760 (GRCm39)	nonsense	probably null
R8009:Sntg1	UTSW	1	8,433,794 (GRCm39)	missense	probably damaging	0.96
R8888:Sntg1	UTSW	1	8,748,074 (GRCm39)	critical splice acceptor site	probably null
R8895:Sntg1	UTSW	1	8,748,074 (GRCm39)	critical splice acceptor site	probably null
R8986:Sntg1	UTSW	1	8,484,491 (GRCm39)	missense	possibly damaging	0.92
R9184:Sntg1	UTSW	1	8,748,056 (GRCm39)	missense	probably damaging	1.00
R9435:Sntg1	UTSW	1	8,433,814 (GRCm39)	missense	probably damaging	0.98
R9463:Sntg1	UTSW	1	8,624,974 (GRCm39)	missense	probably damaging	0.98
R9603:Sntg1	UTSW	1	8,748,198 (GRCm39)	missense	probably damaging	1.00
R9653:Sntg1	UTSW	1	8,433,749 (GRCm39)	missense	unknown
X0026:Sntg1	UTSW	1	8,484,471 (GRCm39)	missense	probably benign	0.40

Predicted Primers

Posted On

2017-12-01