Mutagenetix > Incidental Mutations

Incidental Mutation 'R4695:Slc45a4'

355654

Institutional Source

Beutler Lab

Gene Symbol

Slc45a4

Ensembl Gene

ENSMUSG00000079020

Gene Name

solute carrier family 45, member 4

Synonyms

9330175B01Rik

MMRRC Submission

042016-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4695 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73577424-73645762 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73582075 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 691 (I691T)

Ref Sequence

ENSEMBL: ENSMUSP00000054651 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054266] [ENSMUST00000076224] [ENSMUST00000132607] [ENSMUST00000151288]

AlphaFold

Q0P5V9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054266
AA Change: I691T

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000054651
Gene: ENSMUSG00000079020
AA Change: I691T

Domain	Start	End	E-Value	Type
transmembrane domain	61	83	N/A	INTRINSIC
transmembrane domain	88	110	N/A	INTRINSIC
transmembrane domain	123	145	N/A	INTRINSIC
low complexity region	157	169	N/A	INTRINSIC
low complexity region	213	225	N/A	INTRINSIC
transmembrane domain	240	262	N/A	INTRINSIC
low complexity region	488	499	N/A	INTRINSIC
low complexity region	501	518	N/A	INTRINSIC
transmembrane domain	533	555	N/A	INTRINSIC
transmembrane domain	585	604	N/A	INTRINSIC
transmembrane domain	617	639	N/A	INTRINSIC
transmembrane domain	643	665	N/A	INTRINSIC
transmembrane domain	685	707	N/A	INTRINSIC
transmembrane domain	717	739	N/A	INTRINSIC
low complexity region	754	770	N/A	INTRINSIC
low complexity region	775	786	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076224
AA Change: I683T

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000075577
Gene: ENSMUSG00000079020
AA Change: I683T

Domain	Start	End	E-Value	Type
Pfam:MFS_2	52	266	1.6e-9	PFAM
low complexity region	480	491	N/A	INTRINSIC
low complexity region	493	510	N/A	INTRINSIC
transmembrane domain	525	547	N/A	INTRINSIC
transmembrane domain	577	596	N/A	INTRINSIC
transmembrane domain	609	631	N/A	INTRINSIC
transmembrane domain	635	657	N/A	INTRINSIC
transmembrane domain	677	699	N/A	INTRINSIC
transmembrane domain	709	731	N/A	INTRINSIC
low complexity region	746	762	N/A	INTRINSIC
low complexity region	767	778	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000132607
AA Change: I489T

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115827
Gene: ENSMUSG00000079020
AA Change: I489T

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	39	61	N/A	INTRINSIC
low complexity region	286	297	N/A	INTRINSIC
low complexity region	299	316	N/A	INTRINSIC
transmembrane domain	331	353	N/A	INTRINSIC
transmembrane domain	383	402	N/A	INTRINSIC
transmembrane domain	415	437	N/A	INTRINSIC
transmembrane domain	441	463	N/A	INTRINSIC
transmembrane domain	483	505	N/A	INTRINSIC
transmembrane domain	515	537	N/A	INTRINSIC
low complexity region	552	568	N/A	INTRINSIC
low complexity region	573	584	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000144936
AA Change: I618T

SMART Domains

Protein: ENSMUSP00000122825
Gene: ENSMUSG00000079020
AA Change: I618T

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
transmembrane domain	50	72	N/A	INTRINSIC
low complexity region	85	97	N/A	INTRINSIC
low complexity region	141	153	N/A	INTRINSIC
transmembrane domain	168	190	N/A	INTRINSIC
low complexity region	416	427	N/A	INTRINSIC
low complexity region	429	446	N/A	INTRINSIC
transmembrane domain	461	483	N/A	INTRINSIC
transmembrane domain	513	532	N/A	INTRINSIC
transmembrane domain	545	567	N/A	INTRINSIC
transmembrane domain	571	593	N/A	INTRINSIC
transmembrane domain	613	635	N/A	INTRINSIC
transmembrane domain	645	667	N/A	INTRINSIC
low complexity region	682	698	N/A	INTRINSIC
low complexity region	703	714	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000151288
AA Change: I683T

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000121775
Gene: ENSMUSG00000079020
AA Change: I683T

Domain	Start	End	E-Value	Type
Pfam:MFS_2	52	266	1.6e-9	PFAM
low complexity region	480	491	N/A	INTRINSIC
low complexity region	493	510	N/A	INTRINSIC
transmembrane domain	525	547	N/A	INTRINSIC
transmembrane domain	577	596	N/A	INTRINSIC
transmembrane domain	609	631	N/A	INTRINSIC
transmembrane domain	635	657	N/A	INTRINSIC
transmembrane domain	677	699	N/A	INTRINSIC
transmembrane domain	709	731	N/A	INTRINSIC
low complexity region	746	762	N/A	INTRINSIC
low complexity region	767	778	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152558

SMART Domains

Protein: ENSMUSP00000114790
Gene: ENSMUSG00000079020

Domain	Start	End	E-Value	Type
low complexity region	35	47	N/A	INTRINSIC
transmembrane domain	75	97	N/A	INTRINSIC
transmembrane domain	112	131	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts10	T	A	17: 33,531,739	M251K	possibly damaging	Het
Adcy2	A	T	13: 68,727,843	H513Q	possibly damaging	Het
Ahctf1	A	G	1: 179,753,054	L1861P	possibly damaging	Het
Apc2	C	A	10: 80,311,043	R615S	probably damaging	Het
Arhgap45	A	C	10: 80,025,530	D509A	probably damaging	Het
Atp6v1c2	T	C	12: 17,301,207	T108A	probably benign	Het
Blm	T	A	7: 80,494,228	D821V	probably damaging	Het
C3	T	A	17: 57,221,057	I721L	probably benign	Het
Ccdc13	A	T	9: 121,820,760	V207E	probably damaging	Het
Ccndbp1	C	T	2: 121,014,727		probably benign	Het
Cd180	A	C	13: 102,705,760	Q438P	probably benign	Het
Cd248	C	T	19: 5,068,445	T107M	probably damaging	Het
Cdan1	G	A	2: 120,728,383	R445C	probably damaging	Het
Cic	C	A	7: 25,273,588	H915N	possibly damaging	Het
Cox8c	T	C	12: 102,899,483	S40P	possibly damaging	Het
Cyp2d34	A	T	15: 82,616,891	C347S	probably benign	Het
Dhx30	A	T	9: 110,085,288	F974I	probably damaging	Het
Dlec1	A	T	9: 119,143,153	T1414S	probably benign	Het
Dlg2	C	A	7: 92,437,962		probably null	Het
Dzip1l	T	A	9: 99,647,205	M329K	probably benign	Het
Dzip3	A	T	16: 48,951,561	L582I	probably damaging	Het
Emilin2	T	C	17: 71,252,778	Y1068C	probably damaging	Het
Fam221b	T	A	4: 43,659,622		probably null	Het
Fbxw22	A	G	9: 109,378,871	I444T	probably damaging	Het
Flnc	T	A	6: 29,440,429	N245K	probably damaging	Het
Fnip1	T	A	11: 54,499,419	I380N	probably damaging	Het
Gbf1	C	T	19: 46,259,167	R181*	probably null	Het
Igkv6-17	T	A	6: 70,371,502	F12I	probably benign	Het
Itln1	C	A	1: 171,531,077	G174V	probably damaging	Het
Lrrc52	A	G	1: 167,466,091		probably null	Het
Matn2	A	G	15: 34,402,925	Y432C	probably damaging	Het
Metap1d	A	G	2: 71,524,961	*336W	probably null	Het
Mgam2-ps	T	A	6: 40,802,555		noncoding transcript	Het
Mrps9	T	A	1: 42,862,515	V61D	possibly damaging	Het
Myh7b	T	C	2: 155,614,177	Y161H	probably damaging	Het
Myh9	T	A	15: 77,768,853	D1428V	probably damaging	Het
N4bp3	A	T	11: 51,644,479		probably null	Het
Nat9	T	A	11: 115,184,590	Q75L	probably benign	Het
Nop2	T	C	6: 125,144,556	V767A	probably benign	Het
Ntrk2	A	G	13: 59,126,493	K728E	probably damaging	Het
Olfr497	G	A	7: 108,422,989	M139I	probably benign	Het
Olfr558	T	G	7: 102,709,557	C99W	probably damaging	Het
Olfr836	T	A	9: 19,121,010	H15Q	probably null	Het
Oraov1	T	C	7: 144,928,978		probably null	Het
Pcdhgb2	A	G	18: 37,692,322	T789A	probably benign	Het
Pcyt2	T	C	11: 120,611,174	D321G	probably benign	Het
Rad9a	G	A	19: 4,200,561	R85C	probably damaging	Het
Rbbp8	A	T	18: 11,721,782	K355*	probably null	Het
Rhag	T	C	17: 40,836,467	Y407H	probably damaging	Het
Robo4	G	A	9: 37,403,199	V161M	probably damaging	Het
Rpl27-ps3	C	A	18: 6,332,922	N97K	probably benign	Het
Slc9a9	A	T	9: 94,936,449		probably benign	Het
Spata5	T	G	3: 37,458,325	F713C	probably damaging	Het
Stard13	A	G	5: 151,060,815	F619L	probably benign	Het
Stt3b	A	T	9: 115,254,794	V438E	probably damaging	Het
Tacr3	G	T	3: 134,929,929	C298F	probably damaging	Het
Tacr3	C	T	3: 134,829,421	T50I	probably benign	Het
Taok3	C	T	5: 117,228,066	T394M	probably benign	Het
Tctex1d1	T	A	4: 103,004,229	I136K	probably damaging	Het
Tgfb1i1	A	G	7: 128,249,176	D128G	probably damaging	Het
Tgfbr3l	G	T	8: 4,250,574	V251L	probably benign	Het
Tom1l2	C	G	11: 60,270,433	R84P	probably damaging	Het
Top3a	A	G	11: 60,742,412	S953P	probably benign	Het
Trappc10	T	C	10: 78,197,863	K957E	probably damaging	Het
Ttn	T	A	2: 76,735,324	E28228V	probably damaging	Het
Ttn	T	A	2: 76,754,824	I22042F	probably damaging	Het
Vdr	A	T	15: 97,858,920		probably null	Het
Zfp42	A	T	8: 43,296,131	L111Q	probably damaging	Het

Other mutations in Slc45a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Slc45a4	APN	15	73587655	missense	probably damaging	1.00
IGL02506:Slc45a4	APN	15	73581838	missense	probably benign	0.00
IGL02642:Slc45a4	APN	15	73586815	missense	probably benign
IGL03195:Slc45a4	APN	15	73584423	missense	possibly damaging	0.89
Undefined	UTSW	15	73584450	missense	probably damaging	1.00
R0048:Slc45a4	UTSW	15	73605436	splice site	probably benign
R0189:Slc45a4	UTSW	15	73581914	missense	probably benign	0.00
R0240:Slc45a4	UTSW	15	73581906	missense	probably benign	0.02
R0240:Slc45a4	UTSW	15	73581906	missense	probably benign	0.02
R0828:Slc45a4	UTSW	15	73586816	missense	probably benign	0.01
R1172:Slc45a4	UTSW	15	73605429	splice site	probably benign
R1331:Slc45a4	UTSW	15	73586747	missense	probably benign	0.00
R1739:Slc45a4	UTSW	15	73586038	missense	probably damaging	1.00
R2310:Slc45a4	UTSW	15	73589560	missense	probably damaging	1.00
R4904:Slc45a4	UTSW	15	73586842	missense	probably benign	0.18
R4974:Slc45a4	UTSW	15	73584450	missense	probably damaging	1.00
R6033:Slc45a4	UTSW	15	73581976	missense	probably damaging	1.00
R6033:Slc45a4	UTSW	15	73581976	missense	probably damaging	1.00
R6114:Slc45a4	UTSW	15	73605604	missense	probably damaging	0.96
R7057:Slc45a4	UTSW	15	73587638	missense	probably damaging	1.00
R7221:Slc45a4	UTSW	15	73586410	missense	probably benign	0.06
R7288:Slc45a4	UTSW	15	73586936	nonsense	probably null
R7331:Slc45a4	UTSW	15	73605640	missense	probably benign	0.02
R7874:Slc45a4	UTSW	15	73584335	splice site	probably null
R7901:Slc45a4	UTSW	15	73605772	start gained	probably benign
R8003:Slc45a4	UTSW	15	73585313	nonsense	probably null
R8188:Slc45a4	UTSW	15	73584534	missense	probably benign	0.42
R8315:Slc45a4	UTSW	15	73589556	missense	probably damaging	1.00
R8827:Slc45a4	UTSW	15	73586467	missense	probably benign
R8856:Slc45a4	UTSW	15	73586117	missense	probably damaging	1.00
R9089:Slc45a4	UTSW	15	73586104	missense	probably damaging	1.00
R9278:Slc45a4	UTSW	15	73586357	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- AGGTTCCTCTGACACCTCAG -3'
(R):5'- TCCCGCTATGAGCCATAATGTTC -3'

Sequencing Primer
(F):5'- TCTGACACCTCAGGGTAGATGAC -3'
(R):5'- GAATCCAGTTGCTAGCTGCCTAG -3'

Posted On

2015-10-21