Mutagenetix > Incidental Mutation

Incidental Mutation 'R6736:Sntg1'

528374

Institutional Source

Beutler Lab

Gene Symbol

Sntg1

Ensembl Gene

ENSMUSG00000025909

Gene Name

syntrophin, gamma 1

Synonyms

G1SYN, SYN4

MMRRC Submission

044854-MU

Accession Numbers

Essential gene?

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

Stock #

R6736 (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 8515274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 420 (I420F)

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

noncoding transcript
Transcript: ENSMUST00000115484

SMART Domains

Protein: ENSMUSP00000111147
Gene: ENSMUSG00000025909

Domain	Start	End	E-Value	Type
PH	9	117	7.66e-1	SMART
low complexity region	165	174	N/A	INTRINSIC
low complexity region	224	239	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115488
AA Change: I421F

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000111151
Gene: ENSMUSG00000025909
AA Change: I421F

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: I420F

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000122134
Gene: ENSMUSG00000025909
AA Change: I420F

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

noncoding transcript
Transcript: ENSMUST00000135046

SMART Domains

Protein: ENSMUSP00000119420
Gene: ENSMUSG00000025909

Domain	Start	End	E-Value	Type
Blast:PH	24	86	3e-40	BLAST
low complexity region	98	107	N/A	INTRINSIC
low complexity region	157	172	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140295
AA Change: I421F

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000118101
Gene: ENSMUSG00000025909
AA Change: I421F

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: I420F

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000141839
Gene: ENSMUSG00000025909
AA Change: I420F

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: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,211,100 (GRCm39)	I83T	probably benign	Het
Aadacl4	T	G	4: 144,349,909 (GRCm39)	S389A	possibly damaging	Het
Abca13	A	T	11: 9,415,058 (GRCm39)	S4042C	probably damaging	Het
Acaca	G	A	11: 84,129,664 (GRCm39)	V340I	probably benign	Het
Acox3	T	A	5: 35,746,198 (GRCm39)		probably null	Het
Acsl6	A	C	11: 54,215,992 (GRCm39)	E124A	probably damaging	Het
Adamtsl1	T	A	4: 86,260,484 (GRCm39)	H898Q	probably damaging	Het
Agl	A	G	3: 116,575,329 (GRCm39)	S603P	probably damaging	Het
Apobec1	A	T	6: 122,558,634 (GRCm39)	M31K	probably null	Het
Astn1	T	C	1: 158,338,718 (GRCm39)		probably null	Het
Atp8a1	G	T	5: 67,824,960 (GRCm39)	D790E	probably damaging	Het
Bahd1	T	G	2: 118,746,456 (GRCm39)	M25R	possibly damaging	Het
BC034090	A	T	1: 155,117,676 (GRCm39)	N147K	possibly damaging	Het
Bfsp2	G	T	9: 103,357,403 (GRCm39)	A8E	possibly damaging	Het
Brwd1	A	T	16: 95,869,772 (GRCm39)	I85N	probably damaging	Het
Catspere2	T	A	1: 177,845,278 (GRCm39)	Y99*	probably null	Het
Ccdc24	T	A	4: 117,727,732 (GRCm39)	N145I	possibly damaging	Het
Cdhr5	G	T	7: 140,852,444 (GRCm39)	Q141K	probably damaging	Het
Cfap46	A	G	7: 139,199,887 (GRCm39)	V1998A	possibly damaging	Het
Csmd1	T	A	8: 16,052,626 (GRCm39)	Y2166F	probably damaging	Het
Cul4a	T	G	8: 13,186,219 (GRCm39)	S474A	probably benign	Het
Cutal	A	G	2: 34,778,149 (GRCm39)	T112A	probably benign	Het
Dcaf6	A	C	1: 165,227,354 (GRCm39)	S258A	possibly damaging	Het
Dek	C	T	13: 47,252,866 (GRCm39)	V180M	probably damaging	Het
Dspp	C	A	5: 104,326,041 (GRCm39)	D801E	unknown	Het
Egflam	T	C	15: 7,249,206 (GRCm39)	T871A	probably damaging	Het
Erbin	A	T	13: 103,971,274 (GRCm39)	S781T	possibly damaging	Het
Erich6	A	T	3: 58,532,475 (GRCm39)	H377Q	probably damaging	Het
Exo5	C	A	4: 120,778,953 (GRCm39)	G304V	probably damaging	Het
Eya2	C	A	2: 165,557,957 (GRCm39)	S184R	possibly damaging	Het
Fhod1	G	A	8: 106,064,522 (GRCm39)		probably benign	Het
G6pc3	A	G	11: 102,084,496 (GRCm39)	Y302C	possibly damaging	Het
Gart	T	C	16: 91,432,995 (GRCm39)	D318G	probably benign	Het
Gm10300	T	C	4: 131,802,246 (GRCm39)		probably benign	Het
Gm11937	A	G	11: 99,500,900 (GRCm39)	V39A	probably damaging	Het
Gnas	T	C	2: 174,176,044 (GRCm39)	M60T	probably damaging	Het
Grk5	G	T	19: 60,879,064 (GRCm39)	R16L	probably damaging	Het
Hcn3	A	G	3: 89,059,981 (GRCm39)	L221P	probably damaging	Het
Hddc3	G	A	7: 79,992,944 (GRCm39)	R20Q	possibly damaging	Het
Hectd4	T	C	5: 121,415,788 (GRCm39)	Y530H	possibly damaging	Het
Igf2bp1	A	T	11: 95,863,948 (GRCm39)	H247Q	probably benign	Het
Igkv4-70	T	A	6: 69,244,912 (GRCm39)	D103V	probably damaging	Het
Itpr2	T	A	6: 146,226,668 (GRCm39)	M1359L	probably damaging	Het
Kalrn	A	G	16: 34,038,293 (GRCm39)	L1013S	probably damaging	Het
Kctd21	C	T	7: 96,997,291 (GRCm39)	R255W	probably damaging	Het
Krt18	T	A	15: 101,939,204 (GRCm39)	Y263N	probably benign	Het
Lamp5	C	G	2: 135,901,483 (GRCm39)	N102K	possibly damaging	Het
Larp1	G	A	11: 57,933,473 (GRCm39)		probably null	Het
Lmnb1	A	G	18: 56,861,541 (GRCm39)	N144S	probably damaging	Het
Lrp2	T	A	2: 69,278,555 (GRCm39)	T3933S	probably benign	Het
Lrrc34	T	C	3: 30,679,008 (GRCm39)	N363S	probably benign	Het
Lrriq1	T	C	10: 103,017,750 (GRCm39)		probably null	Het
Mafa	C	A	15: 75,619,629 (GRCm39)	G48V	unknown	Het
Mboat4	T	C	8: 34,591,675 (GRCm39)	S371P	possibly damaging	Het
Mei4	A	T	9: 81,907,677 (GRCm39)	M237L	probably benign	Het
Mfsd2a	T	C	4: 122,845,054 (GRCm39)	D219G	probably benign	Het
Msl2	A	G	9: 100,978,201 (GRCm39)	N192D	probably damaging	Het
Mycbp2	C	A	14: 103,429,003 (GRCm39)	R2358M	probably null	Het
Myh10	A	G	11: 68,636,165 (GRCm39)	T185A	probably damaging	Het
Nipsnap2	T	C	5: 129,822,352 (GRCm39)		probably null	Het
Notch1	T	C	2: 26,350,298 (GRCm39)	T2281A	probably benign	Het
Odad2	C	A	18: 7,223,586 (GRCm39)	V486F	probably damaging	Het
Or12j4	T	C	7: 140,046,800 (GRCm39)	S229P	probably damaging	Het
Or12j4	G	T	7: 140,046,834 (GRCm39)	C240F	probably damaging	Het
Or1e1c	G	T	11: 73,266,402 (GRCm39)	V276F	probably benign	Het
Or4q3	A	T	14: 50,582,905 (GRCm39)	N300K	probably damaging	Het
Or5an10	G	A	19: 12,275,936 (GRCm39)	Q187*	probably null	Het
Or5d20-ps1	C	A	2: 87,931,947 (GRCm39)	C128F	probably benign	Het
Or8c17	T	A	9: 38,179,866 (GRCm39)	I19N	probably damaging	Het
Or8g30	A	G	9: 39,230,089 (GRCm39)	S274P	probably damaging	Het
Oxct1	T	A	15: 4,121,899 (GRCm39)	S283T	probably benign	Het
Pcnx2	G	T	8: 126,479,056 (GRCm39)		probably null	Het
Piwil4	A	G	9: 14,627,119 (GRCm39)	F424L	probably benign	Het
Pkhd1l1	T	C	15: 44,421,336 (GRCm39)	S3035P	probably damaging	Het
Psmc2	T	A	5: 22,005,574 (GRCm39)	D218E	probably damaging	Het
Ptpn7	C	T	1: 135,066,974 (GRCm39)	P277L	probably benign	Het
Rgs12	A	G	5: 35,180,436 (GRCm39)	K27E	probably damaging	Het
Rp1l1	G	T	14: 64,267,173 (GRCm39)	A920S	possibly damaging	Het
Rsbn1l	A	T	5: 21,113,222 (GRCm39)	H433Q	probably benign	Het
Safb	C	A	17: 56,913,023 (GRCm39)	P913Q	possibly damaging	Het
Sema7a	G	A	9: 57,867,854 (GRCm39)	V477M	probably damaging	Het
Serpina16	T	A	12: 103,635,191 (GRCm39)	T408S	possibly damaging	Het
Six5	G	A	7: 18,828,916 (GRCm39)	V119M	possibly damaging	Het
Slc6a16	C	T	7: 44,908,452 (GRCm39)	P11S	possibly damaging	Het
Smg1	A	G	7: 117,756,389 (GRCm39)		probably benign	Het
Sptb	T	C	12: 76,659,954 (GRCm39)	D982G	possibly damaging	Het
Stag3	T	A	5: 138,299,761 (GRCm39)	F891I	probably damaging	Het
Sugp1	A	G	8: 70,511,953 (GRCm39)	E183G	probably benign	Het
Taf1d	T	C	9: 15,219,119 (GRCm39)		probably null	Het
Tapbp	T	C	17: 34,138,931 (GRCm39)	S33P	possibly damaging	Het
Ubap2	CT	CTTGCCCCGGT	4: 41,227,224 (GRCm39)		probably benign	Het
Ubap2	GCCCGCTTGCCCCGCT	GCCCGCTTGCCCCGCTTGCCCCGCT	4: 41,227,210 (GRCm39)		probably benign	Het
Ubash3a	A	G	17: 31,450,389 (GRCm39)	T355A	probably benign	Het
Usp16	T	G	16: 87,267,285 (GRCm39)	V225G	probably damaging	Het
Utrn	A	G	10: 12,497,047 (GRCm39)	V2454A	probably benign	Het
Vmn1r191	G	T	13: 22,363,720 (GRCm39)	F11L	probably benign	Het
Vmn2r117	A	T	17: 23,697,282 (GRCm39)	C137S	probably damaging	Het
Zfp1002	T	A	2: 150,097,198 (GRCm39)	Y77F	possibly damaging	Het
Zfp143	T	C	7: 109,691,021 (GRCm39)	M524T	probably damaging	Het
Zfp599	A	G	9: 22,161,140 (GRCm39)	C342R	probably damaging	Het
Zfp777	T	G	6: 48,001,790 (GRCm39)	K811Q	probably damaging	Het
Zfp870	T	A	17: 33,102,570 (GRCm39)	H254L	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
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

PCR Primer
(F):5'- CAGAGTGGCATGAAATTACTTTGC -3'
(R):5'- CGACCAGATATAACAATGTGTTAGG -3'

Sequencing Primer
(F):5'- GCTATAATTGCTTGCATGAACATTG -3'
(R):5'- GTGGATCAAACCTAGGGTCTTACTC -3'

Posted On

2018-07-24