Mutagenetix > Incidental Mutation

Incidental Mutation 'R7922:Slc7a4'

648484

Institutional Source

Beutler Lab

Gene Symbol

Slc7a4

Ensembl Gene

ENSMUSG00000022756

Gene Name

solute carrier family 7 (cationic amino acid transporter, y+ system), member 4

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.574) question?

Stock #

R7922 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17572018-17583214 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 17573366 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 607 (V607I)

Ref Sequence

ENSEMBL: ENSMUSP00000067243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023441] [ENSMUST00000063544] [ENSMUST00000171002] [ENSMUST00000172164] [ENSMUST00000231283] [ENSMUST00000231552] [ENSMUST00000231615] [ENSMUST00000231645] [ENSMUST00000231806] [ENSMUST00000232186] [ENSMUST00000232226] [ENSMUST00000232336] [ENSMUST00000232385]

AlphaFold

Q8BLQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000023441

SMART Domains

Protein: ENSMUSP00000023441
Gene: ENSMUSG00000022758

Domain	Start	End	E-Value	Type
low complexity region	12	18	N/A	INTRINSIC
Pfam:P2X_receptor	25	385	7.9e-139	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000063544
AA Change: V607I

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000067243
Gene: ENSMUSG00000022756
AA Change: V607I

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	37	436	1.4e-49	PFAM
Pfam:AA_permease	41	426	9.4e-38	PFAM
transmembrane domain	476	498	N/A	INTRINSIC
transmembrane domain	508	530	N/A	INTRINSIC
Pfam:AA_permease_C	540	590	1.4e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171002

SMART Domains

Protein: ENSMUSP00000132727
Gene: ENSMUSG00000022758

Domain	Start	End	E-Value	Type
low complexity region	12	18	N/A	INTRINSIC
Pfam:P2X_receptor	25	197	1e-65	PFAM
Pfam:P2X_receptor	185	362	7e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172164
AA Change: V607I

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000127280
Gene: ENSMUSG00000022756
AA Change: V607I

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	37	498	2.6e-46	PFAM
Pfam:AA_permease	41	423	4.5e-36	PFAM
transmembrane domain	508	530	N/A	INTRINSIC
Pfam:AA_permease_C	540	590	1.5e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000231283

Predicted Effect

probably benign
Transcript: ENSMUST00000231552

Predicted Effect

probably benign
Transcript: ENSMUST00000231615
AA Change: V402I

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000231645

Predicted Effect

probably benign
Transcript: ENSMUST00000231806

Predicted Effect

probably benign
Transcript: ENSMUST00000232186

Predicted Effect

probably damaging
Transcript: ENSMUST00000232226
AA Change: G448D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000232336

Predicted Effect

probably benign
Transcript: ENSMUST00000232385
AA Change: V402I

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	T	12: 71,164,406	T638M	possibly damaging	Het
4930546C10Rik	A	G	18: 68,949,996		probably null	Het
Abi3	A	T	11: 95,832,793	Y342N	unknown	Het
Adk	G	A	14: 21,318,043	V195I	probably benign	Het
Ago2	C	T	15: 73,126,526	V268M	possibly damaging	Het
Apaf1	T	C	10: 90,999,753	I1077V	probably benign	Het
Arap1	A	T	7: 101,404,414	K1317*	probably null	Het
Auts2	T	A	5: 131,440,373	D493V		Het
Baz1b	A	T	5: 135,231,679	Q1110L	probably damaging	Het
Brsk2	T	A	7: 141,993,220	S467T	possibly damaging	Het
Btbd9	A	T	17: 30,274,884	M511K	probably benign	Het
Cdh23	T	A	10: 60,382,706	Y1385F	probably benign	Het
Cfap100	A	C	6: 90,403,980	L427V	unknown	Het
Cnga1	A	G	5: 72,604,882	F430L	possibly damaging	Het
Dnhd1	A	T	7: 105,668,514	D472V	probably damaging	Het
Dock2	T	A	11: 34,707,327	E339V	probably benign	Het
Eif3a	A	T	19: 60,775,842	V379E	probably damaging	Het
Erich4	T	A	7: 25,615,743	N36Y	probably damaging	Het
Fam60a	T	A	6: 148,926,146	T125S	probably benign	Het
Frem2	T	C	3: 53,653,304	T1261A	probably damaging	Het
Fzd6	A	T	15: 39,031,108	D223V	probably damaging	Het
Gabra2	A	T	5: 71,007,972	Y218*	probably null	Het
Gcn1l1	G	T	5: 115,614,468	M2177I	probably benign	Het
Ghr	G	A	15: 3,341,074	T103I	possibly damaging	Het
Gipc1	T	C	8: 83,661,228	V79A	probably benign	Het
Gm10031	A	T	1: 156,524,992	L254F	probably damaging	Het
Gm13272	T	A	4: 88,780,340	V164D	probably damaging	Het
Gramd4	C	A	15: 86,131,958	H503Q	probably benign	Het
Gstm4	A	T	3: 108,044,671	M1K	probably null	Het
Heatr5b	T	A	17: 78,760,559	Q1800L	probably benign	Het
Hectd1	T	A	12: 51,790,195	K826*	probably null	Het
Hoxa9	T	C	6: 52,224,309	I251V	possibly damaging	Het
Il2ra	A	T	2: 11,674,366	I46F	possibly damaging	Het
Ints2	T	A	11: 86,244,627	R320S	probably benign	Het
Iscu	A	T	5: 113,774,282	N46I	probably damaging	Het
Iscu	G	A	5: 113,774,349	R60Q	unknown	Het
Kcnk3	A	T	5: 30,588,531	H72L	probably damaging	Het
Kmt2a	T	G	9: 44,842,860	S1228R	unknown	Het
Mbl2	T	A	19: 30,239,238	L150Q	probably damaging	Het
Med13	A	T	11: 86,271,005	F2166Y	probably damaging	Het
Mterf4	A	C	1: 93,301,553	L246*	probably null	Het
Muc16	T	C	9: 18,584,825	Q6690R	probably benign	Het
Myh10	T	A	11: 68,808,893	L1722Q	possibly damaging	Het
Neurod2	T	C	11: 98,327,628	M237V	probably benign	Het
Olfml1	A	G	7: 107,571,149	Y81C	probably damaging	Het
Olfr735	A	G	14: 50,346,415	V9A	probably benign	Het
Pcdhga7	A	T	18: 37,716,173	N411I	probably benign	Het
Pcdhgb8	T	C	18: 37,763,949	F691L	probably benign	Het
Pik3c2a	A	G	7: 116,391,282	V481A	probably damaging	Het
Pik3r6	A	T	11: 68,533,875	R435S	probably benign	Het
Pkd1l1	G	A	11: 8,849,013	H2250Y		Het
Pkd1l1	A	G	11: 8,909,857	S1034P		Het
Plcd1	C	A	9: 119,074,652	R400L	possibly damaging	Het
Ppp2r1a	A	G	17: 20,954,617	T58A	probably benign	Het
Ppp5c	T	C	7: 17,027,800	E5G	possibly damaging	Het
Pradc1	A	C	6: 85,447,968	F82L	probably benign	Het
Prkag3	A	T	1: 74,741,257	S416R	probably benign	Het
Rab3gap2	T	C	1: 185,249,920	C390R	probably benign	Het
Rhot1	A	G	11: 80,265,803	T655A	probably benign	Het
Rorc	A	G	3: 94,391,188	I348V	probably damaging	Het
Ryr1	A	T	7: 29,097,224	V1051E	probably benign	Het
Sema5b	GCAC	GC	16: 35,658,256		probably null	Het
Serpinb3c	G	A	1: 107,272,014	T259I	probably damaging	Het
Sh3gl1	A	T	17: 56,019,438	M70K	probably damaging	Het
Spop	A	T	11: 95,471,328	N62Y	probably damaging	Het
Spout1	A	G	2: 30,176,811	F130S	probably benign	Het
Tab1	A	G	15: 80,158,865	H420R	possibly damaging	Het
Tecpr2	CA	C	12: 110,932,642		probably null	Het
Tnxb	G	C	17: 34,714,603	K2332N	probably damaging	Het
Togaram1	T	C	12: 64,967,738	Y588H	probably damaging	Het
Trim71	G	A	9: 114,513,085	R710C	probably damaging	Het
Tsen54	C	T	11: 115,820,782	Q342*	probably null	Het
Ube2r2	T	A	4: 41,190,812	N235K	unknown	Het
Utrn	C	A	10: 12,667,527	K1792N	possibly damaging	Het
Vmn1r122	A	G	7: 21,133,662	I156T	possibly damaging	Het
Vmn1r94	T	C	7: 20,167,711	T223A	possibly damaging	Het
Vmn2r120	G	A	17: 57,524,683	R369W	probably damaging	Het
Vwa7	G	T	17: 35,024,433	A717S	possibly damaging	Het
Zc3h4	T	A	7: 16,425,722	C398S	unknown	Het
Zc3hc1	T	A	6: 30,390,875	E43V	possibly damaging	Het
Zfp101	A	T	17: 33,381,537	V415D	possibly damaging	Het
Zfp553	A	G	7: 127,236,596	H441R	probably damaging	Het

Other mutations in Slc7a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02717:Slc7a4	APN	16	17574575	missense	possibly damaging	0.90
R0066:Slc7a4	UTSW	16	17574011	missense	probably benign	0.02
R0066:Slc7a4	UTSW	16	17574011	missense	probably benign	0.02
R0402:Slc7a4	UTSW	16	17575633	missense	probably damaging	1.00
R1426:Slc7a4	UTSW	16	17573944	critical splice donor site	probably null
R1926:Slc7a4	UTSW	16	17575704	missense	probably damaging	1.00
R2097:Slc7a4	UTSW	16	17573455	splice site	probably null
R2140:Slc7a4	UTSW	16	17574544	missense	possibly damaging	0.91
R4496:Slc7a4	UTSW	16	17575812	missense	probably damaging	1.00
R4548:Slc7a4	UTSW	16	17575345	missense	probably benign	0.01
R4570:Slc7a4	UTSW	16	17574277	missense	probably benign	0.00
R4631:Slc7a4	UTSW	16	17574391	missense	probably damaging	1.00
R4658:Slc7a4	UTSW	16	17575933	missense	probably damaging	1.00
R4825:Slc7a4	UTSW	16	17574521	missense	probably damaging	1.00
R5102:Slc7a4	UTSW	16	17575618	missense	probably damaging	1.00
R5364:Slc7a4	UTSW	16	17573363	missense	probably benign	0.33
R5650:Slc7a4	UTSW	16	17575684	missense	possibly damaging	0.94
R5666:Slc7a4	UTSW	16	17575951	utr 5 prime	probably benign
R5944:Slc7a4	UTSW	16	17574356	missense	possibly damaging	0.95
R6769:Slc7a4	UTSW	16	17575320	missense	possibly damaging	0.72
R7381:Slc7a4	UTSW	16	17575056	missense	probably damaging	0.99
R7470:Slc7a4	UTSW	16	17575113	missense	probably benign	0.07
R7903:Slc7a4	UTSW	16	17575281	missense	probably benign	0.00
R8003:Slc7a4	UTSW	16	17574451	missense	possibly damaging	0.94
R9300:Slc7a4	UTSW	16	17574535	missense	probably benign	0.22
R9452:Slc7a4	UTSW	16	17573407	missense	probably damaging	0.98
R9569:Slc7a4	UTSW	16	17575398	missense
R9674:Slc7a4	UTSW	16	17574344	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAAGCTTCCTTAAGTAGGCAGC -3'
(R):5'- TGACCTGGCTACGCTTTATC -3'

Sequencing Primer
(F):5'- GCAGCTGCCAATTCTTCTGG -3'
(R):5'- GGCTACGCTTTATCTTCTGGCTG -3'

Posted On

2020-09-15