Mutagenetix > Incidental Mutation

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4695 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73449273-73517611 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73453924 bp (GRCm39)

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: 33,750,713 (GRCm39)	M251K	possibly damaging	Het
Adcy2	A	T	13: 68,875,962 (GRCm39)	H513Q	possibly damaging	Het
Afg2a	T	G	3: 37,512,474 (GRCm39)	F713C	probably damaging	Het
Ahctf1	A	G	1: 179,580,619 (GRCm39)	L1861P	possibly damaging	Het
Apc2	C	A	10: 80,146,877 (GRCm39)	R615S	probably damaging	Het
Arhgap45	A	C	10: 79,861,364 (GRCm39)	D509A	probably damaging	Het
Atp6v1c2	T	C	12: 17,351,208 (GRCm39)	T108A	probably benign	Het
Blm	T	A	7: 80,143,976 (GRCm39)	D821V	probably damaging	Het
C3	T	A	17: 57,528,057 (GRCm39)	I721L	probably benign	Het
Ccdc13	A	T	9: 121,649,826 (GRCm39)	V207E	probably damaging	Het
Ccndbp1	C	T	2: 120,845,208 (GRCm39)		probably benign	Het
Cd180	A	C	13: 102,842,268 (GRCm39)	Q438P	probably benign	Het
Cd248	C	T	19: 5,118,473 (GRCm39)	T107M	probably damaging	Het
Cdan1	G	A	2: 120,558,864 (GRCm39)	R445C	probably damaging	Het
Cic	C	A	7: 24,973,013 (GRCm39)	H915N	possibly damaging	Het
Cox8c	T	C	12: 102,865,742 (GRCm39)	S40P	possibly damaging	Het
Cyp2d34	A	T	15: 82,501,092 (GRCm39)	C347S	probably benign	Het
Dhx30	A	T	9: 109,914,356 (GRCm39)	F974I	probably damaging	Het
Dlec1	A	T	9: 118,972,221 (GRCm39)	T1414S	probably benign	Het
Dlg2	C	A	7: 92,087,170 (GRCm39)		probably null	Het
Dynlt5	T	A	4: 102,861,426 (GRCm39)	I136K	probably damaging	Het
Dzip1l	T	A	9: 99,529,258 (GRCm39)	M329K	probably benign	Het
Dzip3	A	T	16: 48,771,924 (GRCm39)	L582I	probably damaging	Het
Emilin2	T	C	17: 71,559,773 (GRCm39)	Y1068C	probably damaging	Het
Fam221b	T	A	4: 43,659,622 (GRCm39)		probably null	Het
Fbxw22	A	G	9: 109,207,939 (GRCm39)	I444T	probably damaging	Het
Flnc	T	A	6: 29,440,428 (GRCm39)	N245K	probably damaging	Het
Fnip1	T	A	11: 54,390,245 (GRCm39)	I380N	probably damaging	Het
Gbf1	C	T	19: 46,247,606 (GRCm39)	R181*	probably null	Het
Igkv6-17	T	A	6: 70,348,486 (GRCm39)	F12I	probably benign	Het
Itln1	C	A	1: 171,358,645 (GRCm39)	G174V	probably damaging	Het
Lrrc52	A	G	1: 167,293,660 (GRCm39)		probably null	Het
LTO1	T	C	7: 144,482,715 (GRCm39)		probably null	Het
Matn2	A	G	15: 34,403,071 (GRCm39)	Y432C	probably damaging	Het
Metap1d	A	G	2: 71,355,305 (GRCm39)	*336W	probably null	Het
Mgam2-ps	T	A	6: 40,779,489 (GRCm39)		noncoding transcript	Het
Mrps9	T	A	1: 42,901,675 (GRCm39)	V61D	possibly damaging	Het
Myh7b	T	C	2: 155,456,097 (GRCm39)	Y161H	probably damaging	Het
Myh9	T	A	15: 77,653,053 (GRCm39)	D1428V	probably damaging	Het
N4bp3	A	T	11: 51,535,306 (GRCm39)		probably null	Het
Nat9	T	A	11: 115,075,416 (GRCm39)	Q75L	probably benign	Het
Nop2	T	C	6: 125,121,519 (GRCm39)	V767A	probably benign	Het
Ntrk2	A	G	13: 59,274,307 (GRCm39)	K728E	probably damaging	Het
Or51e1	T	G	7: 102,358,764 (GRCm39)	C99W	probably damaging	Het
Or5p72	G	A	7: 108,022,196 (GRCm39)	M139I	probably benign	Het
Or7g21	T	A	9: 19,032,306 (GRCm39)	H15Q	probably null	Het
Pcdhgb2	A	G	18: 37,825,375 (GRCm39)	T789A	probably benign	Het
Pcyt2	T	C	11: 120,502,000 (GRCm39)	D321G	probably benign	Het
Rad9a	G	A	19: 4,250,560 (GRCm39)	R85C	probably damaging	Het
Rbbp8	A	T	18: 11,854,839 (GRCm39)	K355*	probably null	Het
Rhag	T	C	17: 41,147,358 (GRCm39)	Y407H	probably damaging	Het
Robo4	G	A	9: 37,314,495 (GRCm39)	V161M	probably damaging	Het
Rpl27-ps3	C	A	18: 6,332,922 (GRCm39)	N97K	probably benign	Het
Slc9a9	A	T	9: 94,818,502 (GRCm39)		probably benign	Het
Stard13	A	G	5: 150,984,280 (GRCm39)	F619L	probably benign	Het
Stt3b	A	T	9: 115,083,862 (GRCm39)	V438E	probably damaging	Het
Tacr3	C	T	3: 134,535,182 (GRCm39)	T50I	probably benign	Het
Tacr3	G	T	3: 134,635,690 (GRCm39)	C298F	probably damaging	Het
Taok3	C	T	5: 117,366,131 (GRCm39)	T394M	probably benign	Het
Tgfb1i1	A	G	7: 127,848,348 (GRCm39)	D128G	probably damaging	Het
Tgfbr3l	G	T	8: 4,300,574 (GRCm39)	V251L	probably benign	Het
Tom1l2	C	G	11: 60,161,259 (GRCm39)	R84P	probably damaging	Het
Top3a	A	G	11: 60,633,238 (GRCm39)	S953P	probably benign	Het
Trappc10	T	C	10: 78,033,697 (GRCm39)	K957E	probably damaging	Het
Ttn	T	A	2: 76,565,668 (GRCm39)	E28228V	probably damaging	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Vdr	A	T	15: 97,756,801 (GRCm39)		probably null	Het
Zfp42	A	T	8: 43,749,168 (GRCm39)	L111Q	probably damaging	Het

Other mutations in Slc45a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Slc45a4	APN	15	73,459,504 (GRCm39)	missense	probably damaging	1.00
IGL02506:Slc45a4	APN	15	73,453,687 (GRCm39)	missense	probably benign	0.00
IGL02642:Slc45a4	APN	15	73,458,664 (GRCm39)	missense	probably benign
IGL03195:Slc45a4	APN	15	73,456,272 (GRCm39)	missense	possibly damaging	0.89
nosey	UTSW	15	73,457,953 (GRCm39)	missense	probably damaging	1.00
Undefined	UTSW	15	73,456,299 (GRCm39)	missense	probably damaging	1.00
R0048:Slc45a4	UTSW	15	73,477,285 (GRCm39)	splice site	probably benign
R0189:Slc45a4	UTSW	15	73,453,763 (GRCm39)	missense	probably benign	0.00
R0240:Slc45a4	UTSW	15	73,453,755 (GRCm39)	missense	probably benign	0.02
R0240:Slc45a4	UTSW	15	73,453,755 (GRCm39)	missense	probably benign	0.02
R0828:Slc45a4	UTSW	15	73,458,665 (GRCm39)	missense	probably benign	0.01
R1172:Slc45a4	UTSW	15	73,477,278 (GRCm39)	splice site	probably benign
R1331:Slc45a4	UTSW	15	73,458,596 (GRCm39)	missense	probably benign	0.00
R1739:Slc45a4	UTSW	15	73,457,887 (GRCm39)	missense	probably damaging	1.00
R2310:Slc45a4	UTSW	15	73,461,409 (GRCm39)	missense	probably damaging	1.00
R4904:Slc45a4	UTSW	15	73,458,691 (GRCm39)	missense	probably benign	0.18
R4974:Slc45a4	UTSW	15	73,456,299 (GRCm39)	missense	probably damaging	1.00
R6033:Slc45a4	UTSW	15	73,453,825 (GRCm39)	missense	probably damaging	1.00
R6033:Slc45a4	UTSW	15	73,453,825 (GRCm39)	missense	probably damaging	1.00
R6114:Slc45a4	UTSW	15	73,477,453 (GRCm39)	missense	probably damaging	0.96
R7057:Slc45a4	UTSW	15	73,459,487 (GRCm39)	missense	probably damaging	1.00
R7221:Slc45a4	UTSW	15	73,458,259 (GRCm39)	missense	probably benign	0.06
R7288:Slc45a4	UTSW	15	73,458,785 (GRCm39)	nonsense	probably null
R7331:Slc45a4	UTSW	15	73,477,489 (GRCm39)	missense	probably benign	0.02
R7874:Slc45a4	UTSW	15	73,456,184 (GRCm39)	splice site	probably null
R7901:Slc45a4	UTSW	15	73,477,621 (GRCm39)	start gained	probably benign
R8003:Slc45a4	UTSW	15	73,457,162 (GRCm39)	nonsense	probably null
R8188:Slc45a4	UTSW	15	73,456,383 (GRCm39)	missense	probably benign	0.42
R8315:Slc45a4	UTSW	15	73,461,405 (GRCm39)	missense	probably damaging	1.00
R8827:Slc45a4	UTSW	15	73,458,316 (GRCm39)	missense	probably benign
R8856:Slc45a4	UTSW	15	73,457,966 (GRCm39)	missense	probably damaging	1.00
R9089:Slc45a4	UTSW	15	73,457,953 (GRCm39)	missense	probably damaging	1.00
R9278:Slc45a4	UTSW	15	73,458,206 (GRCm39)	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