Mutagenetix > Incidental Mutation

Incidental Mutation 'R9653:Sntg1'

727153

Institutional Source

Beutler Lab

Gene Symbol

Sntg1

Ensembl Gene

ENSMUSG00000025909

Gene Name

syntrophin, gamma 1

Synonyms

G1SYN, SYN4

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R9653 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8431699-9370103 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8433749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 501 (T501S)

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

unknown
Transcript: ENSMUST00000115488
AA Change: T502S

SMART Domains

Protein: ENSMUSP00000111151
Gene: ENSMUSG00000025909
AA Change: T502S

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

unknown
Transcript: ENSMUST00000132064
AA Change: T501S

SMART Domains

Protein: ENSMUSP00000122134
Gene: ENSMUSG00000025909
AA Change: T501S

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

unknown
Transcript: ENSMUST00000140295
AA Change: T502S

SMART Domains

Protein: ENSMUSP00000118101
Gene: ENSMUSG00000025909
AA Change: T502S

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

unknown
Transcript: ENSMUST00000191683
AA Change: T501S

SMART Domains

Protein: ENSMUSP00000141839
Gene: ENSMUSG00000025909
AA Change: T501S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,243,741 (GRCm39)	P1868L	probably benign	Het
Abcc1	T	C	16: 14,214,257 (GRCm39)	Y191H	probably damaging	Het
Adamtsl5	C	T	10: 80,180,763 (GRCm39)	G100R	probably damaging	Het
Adgrg5	C	T	8: 95,663,864 (GRCm39)	P235S		Het
Anks1b	T	G	10: 90,346,524 (GRCm39)	L608R	probably damaging	Het
Ano10	C	G	9: 122,080,221 (GRCm39)	A597P	possibly damaging	Het
Calb2	T	C	8: 110,881,374 (GRCm39)	M58V	probably benign	Het
Ccdc180	T	C	4: 45,923,495 (GRCm39)	I1092T	probably damaging	Het
Ces3b	G	T	8: 105,812,257 (GRCm39)	A169S	probably damaging	Het
Chmp2a	A	T	7: 12,766,456 (GRCm39)	F129I	probably damaging	Het
Clasp2	T	A	9: 113,670,993 (GRCm39)	W365R	probably benign	Het
Col12a1	T	C	9: 79,584,556 (GRCm39)	K1344R	probably benign	Het
Col3a1	A	G	1: 45,360,728 (GRCm39)	I53V	unknown	Het
Coro2b	T	C	9: 62,335,259 (GRCm39)	Y309C	probably damaging	Het
Cramp1	C	A	17: 25,201,783 (GRCm39)	K566N	probably damaging	Het
Crygs	T	A	16: 22,625,304 (GRCm39)	T46S	probably benign	Het
Ctbp2	C	G	7: 132,615,933 (GRCm39)	R334P	probably damaging	Het
Dcstamp	A	T	15: 39,623,792 (GRCm39)	D469V	probably benign	Het
Dhdh	T	C	7: 45,128,551 (GRCm39)	D209G	probably damaging	Het
Dnah7b	T	C	1: 46,252,544 (GRCm39)	V1742A	possibly damaging	Het
Dnaja2	T	C	8: 86,265,982 (GRCm39)	T368A	probably benign	Het
Dscaml1	T	C	9: 45,643,466 (GRCm39)		probably null	Het
Eps8l1	A	T	7: 4,481,886 (GRCm39)	K704M	unknown	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fgd4	T	A	16: 16,254,461 (GRCm39)	H524L	probably benign	Het
Fktn	T	A	4: 53,731,273 (GRCm39)	F103I	probably benign	Het
Gcc2	T	C	10: 58,110,822 (GRCm39)	M1001T	possibly damaging	Het
Gm4847	T	C	1: 166,467,582 (GRCm39)	S205G	possibly damaging	Het
Grid2	A	T	6: 63,907,968 (GRCm39)	N203Y	possibly damaging	Het
Hif3a	G	A	7: 16,782,641 (GRCm39)	A308V	probably damaging	Het
Htr5a	A	G	5: 28,047,838 (GRCm39)	N131S	possibly damaging	Het
Igfn1	G	A	1: 135,883,323 (GRCm39)	Q2728*	probably null	Het
Ighv5-16	C	A	12: 113,802,313 (GRCm39)	K62N	possibly damaging	Het
Ip6k3	A	T	17: 27,367,588 (GRCm39)	Y203N	possibly damaging	Het
Itga2	G	A	13: 115,020,991 (GRCm39)	P120L	probably benign	Het
Itpkb	G	T	1: 180,160,056 (GRCm39)	E61*	probably null	Het
Kcnj3	G	A	2: 55,484,864 (GRCm39)	V321M	probably damaging	Het
Kmt2c	A	G	5: 25,507,819 (GRCm39)	L3206P	probably damaging	Het
Krtap5-4	T	C	7: 141,857,908 (GRCm39)	C193R	unknown	Het
Large1	G	T	8: 73,564,106 (GRCm39)	H553Q	probably benign	Het
Lrfn5	T	A	12: 61,890,418 (GRCm39)	V569D	probably damaging	Het
Luzp2	A	G	7: 54,702,580 (GRCm39)	T48A	probably damaging	Het
Lypd6	A	T	2: 50,080,758 (GRCm39)	T149S	probably benign	Het
Map3k1	T	C	13: 111,890,296 (GRCm39)	N1301S	possibly damaging	Het
Ndufv2	C	T	17: 66,396,251 (GRCm39)	W91*	probably null	Het
Nisch	A	T	14: 30,893,628 (GRCm39)	V1315E	probably damaging	Het
Npas1	T	C	7: 16,190,146 (GRCm39)	I467V	probably benign	Het
Nucb1	A	G	7: 45,144,202 (GRCm39)	M337T	probably benign	Het
Oog3	T	G	4: 143,884,489 (GRCm39)	R482S	probably benign	Het
Or10d4b	T	C	9: 39,535,154 (GRCm39)	L243P	probably damaging	Het
Or4f14c	A	T	2: 111,941,261 (GRCm39)	M112K	probably damaging	Het
Or51ag1	C	T	7: 103,155,727 (GRCm39)	R142H	probably benign	Het
Or56a42-ps1	A	T	7: 104,775,985 (GRCm39)	N164K	probably benign	Het
Padi2	T	C	4: 140,662,036 (GRCm39)		probably null	Het
Pam	C	T	1: 97,768,469 (GRCm39)	V660M	possibly damaging	Het
Phc2	C	T	4: 128,641,012 (GRCm39)	L700F	probably damaging	Het
Plekha1	T	C	7: 130,479,494 (GRCm39)	V4A	possibly damaging	Het
Rai1	A	G	11: 60,080,142 (GRCm39)	E1402G	probably benign	Het
Recql5	G	A	11: 115,788,032 (GRCm39)	A429V	probably benign	Het
Rere	A	G	4: 150,516,010 (GRCm39)	N101S	probably benign	Het
Robo1	T	G	16: 72,821,330 (GRCm39)	S1357A	possibly damaging	Het
Rsl1	T	A	13: 67,330,106 (GRCm39)	Y185N	probably damaging	Het
Rsph3a	T	C	17: 8,165,074 (GRCm39)	S145P	possibly damaging	Het
Sall1	T	C	8: 89,757,506 (GRCm39)	E866G	probably damaging	Het
Sall3	A	T	18: 81,016,228 (GRCm39)	S567T	probably benign	Het
Sap30	G	A	8: 57,938,156 (GRCm39)	Q154*	probably null	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Scn8a	A	G	15: 100,937,947 (GRCm39)	E1772G	probably damaging	Het
Scube3	C	T	17: 28,375,772 (GRCm39)	A169V	probably damaging	Het
Sema6c	T	C	3: 95,080,525 (GRCm39)	S940P	probably benign	Het
Sertad4	C	T	1: 192,528,836 (GRCm39)	D327N	probably damaging	Het
Shisal2b	A	G	13: 105,000,296 (GRCm39)		probably benign	Het
Skp1	A	G	11: 52,134,514 (GRCm39)	T82A	possibly damaging	Het
Slc39a14	G	T	14: 70,547,248 (GRCm39)	T366K	probably damaging	Het
Snrnp200	G	T	2: 127,067,959 (GRCm39)	V819L	probably damaging	Het
Srsf12	T	C	4: 33,231,249 (GRCm39)	S253P	possibly damaging	Het
Sycp2l	A	G	13: 41,295,381 (GRCm39)	S315G	probably benign	Het
Tars2	T	C	3: 95,655,379 (GRCm39)	Y337C	probably damaging	Het
Thbs4	T	C	13: 92,898,022 (GRCm39)	D599G	probably benign	Het
Tmem200c	A	G	17: 69,149,181 (GRCm39)	H588R	probably benign	Het
Tmem255b	T	A	8: 13,506,005 (GRCm39)	V204E	probably damaging	Het
Usp24	T	A	4: 106,204,564 (GRCm39)	M261K	probably benign	Het
Utrn	T	A	10: 12,497,123 (GRCm39)	I2429F	probably benign	Het
Utrn	C	T	10: 12,539,189 (GRCm39)	A1943T	probably benign	Het
Vmn2r85	A	T	10: 130,261,694 (GRCm39)	D214E	probably damaging	Het
Wdr81	G	T	11: 75,340,213 (GRCm39)	P183T		Het
Zfp28	G	A	7: 6,395,623 (GRCm39)	R134H		Het
Zfp532	T	A	18: 65,756,308 (GRCm39)	D80E	possibly damaging	Het
Zfyve26	T	C	12: 79,334,418 (GRCm39)	D200G	probably benign	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
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
X0026:Sntg1	UTSW	1	8,484,471 (GRCm39)	missense	probably benign	0.40

Predicted Primers

Posted On

2022-10-06