Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00325:Slc45a4'

5833

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc45a4

Ensembl Gene

ENSMUSG00000079020

Gene Name

solute carrier family 45, member 4

Synonyms

9330175B01Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00325

Quality Score

Status

Chromosome

Chromosomal Location

73449273-73517611 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73459504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 95 (V95A)

Gene Model

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

AlphaFold

Q0P5V9

Predicted Effect

probably damaging
Transcript: ENSMUST00000054266
AA Change: V168A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000054651
Gene: ENSMUSG00000079020
AA Change: V168A

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

probably damaging
Transcript: ENSMUST00000076224
AA Change: V168A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000075577
Gene: ENSMUSG00000079020
AA Change: V168A

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

probably benign
Transcript: ENSMUST00000132607

SMART Domains

Protein: ENSMUSP00000115827
Gene: ENSMUSG00000079020

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

probably damaging
Transcript: ENSMUST00000144936
AA Change: V95A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122825
Gene: ENSMUSG00000079020
AA Change: V95A

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

probably damaging
Transcript: ENSMUST00000151288
AA Change: V168A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000121775
Gene: ENSMUSG00000079020
AA Change: V168A

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	A	G	11: 69,773,517 (GRCm39)	S431P	possibly damaging	Het
Arid1b	C	A	17: 5,387,385 (GRCm39)	R1613S	possibly damaging	Het
Atxn2l	T	C	7: 126,097,460 (GRCm39)	D196G	possibly damaging	Het
Bag3	C	A	7: 128,148,065 (GRCm39)	T560K	probably benign	Het
BC051076	A	G	5: 88,112,354 (GRCm39)		probably benign	Het
Becn1	A	T	11: 101,186,448 (GRCm39)	M18K	probably benign	Het
C130050O18Rik	G	A	5: 139,400,493 (GRCm39)	C182Y	probably damaging	Het
Cfap43	A	G	19: 47,811,627 (GRCm39)		probably benign	Het
Cfap97	C	T	8: 46,623,222 (GRCm39)	S204L	probably damaging	Het
Gaa	A	G	11: 119,165,786 (GRCm39)	T100A	probably benign	Het
Gab2	C	T	7: 96,948,465 (GRCm39)	P352S	probably damaging	Het
Gckr	T	A	5: 31,465,111 (GRCm39)	I360N	possibly damaging	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Gulo	G	T	14: 66,243,398 (GRCm39)	A40D	probably damaging	Het
Irs1	T	C	1: 82,266,204 (GRCm39)	I671V	probably benign	Het
Itgax	T	C	7: 127,747,481 (GRCm39)	V1028A	possibly damaging	Het
Lamb3	T	C	1: 193,002,755 (GRCm39)	C67R	probably damaging	Het
Mpdz	A	T	4: 81,235,868 (GRCm39)	V1237E	probably damaging	Het
Nat8	C	T	6: 85,807,579 (GRCm39)	V185M	probably benign	Het
Ninj2	A	C	6: 120,175,023 (GRCm39)	T65P	probably benign	Het
Nrg2	T	C	18: 36,154,271 (GRCm39)	M549V	probably benign	Het
Nwd2	A	G	5: 63,962,818 (GRCm39)	M801V	probably benign	Het
Pde8b	T	C	13: 95,170,875 (GRCm39)	D589G	probably damaging	Het
Ppp1r35	T	A	5: 137,777,799 (GRCm39)	V155E	probably damaging	Het
Prss36	T	A	7: 127,544,099 (GRCm39)		probably benign	Het
Raver2	A	G	4: 100,960,065 (GRCm39)	K182E	probably damaging	Het
Ring1	T	G	17: 34,241,983 (GRCm39)	E142A	possibly damaging	Het
Sidt2	T	A	9: 45,853,534 (GRCm39)	M689L	possibly damaging	Het
Ssc5d	T	C	7: 4,947,480 (GRCm39)	V1278A	possibly damaging	Het
Stk36	A	T	1: 74,673,861 (GRCm39)	K1251N	possibly damaging	Het
Utp14b	T	A	1: 78,642,262 (GRCm39)	S53R	probably damaging	Het
Vmn2r17	A	T	5: 109,575,858 (GRCm39)	E243V	probably benign	Het

Other mutations in Slc45a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4695:Slc45a4	UTSW	15	73,453,924 (GRCm39)	missense	possibly damaging	0.94
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

Posted On

2012-04-20