Mutagenetix > Incidental Mutation

Incidental Mutation 'R1331:Slc45a4'

156218

Institutional Source

Beutler Lab

Gene Symbol

Slc45a4

Ensembl Gene

ENSMUSG00000079020

Gene Name

solute carrier family 45, member 4

Synonyms

9330175B01Rik

MMRRC Submission

039396-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1331 (G1)

Quality Score

212

Status

Validated

Chromosome

Chromosomal Location

73449273-73517611 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 73458596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 326 (D326N)

Ref Sequence

ENSEMBL: ENSMUSP00000054651 (fasta)

Gene Model

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

AlphaFold

Q0P5V9

Predicted Effect

probably benign
Transcript: ENSMUST00000054266
AA Change: D326N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000054651
Gene: ENSMUSG00000079020
AA Change: D326N

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 benign
Transcript: ENSMUST00000076224
AA Change: D318N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000075577
Gene: ENSMUSG00000079020
AA Change: D318N

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
AA Change: D124N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000115827
Gene: ENSMUSG00000079020
AA Change: D124N

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: D253N

SMART Domains

Protein: ENSMUSP00000122825
Gene: ENSMUSG00000079020
AA Change: D253N

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 benign
Transcript: ENSMUST00000151288
AA Change: D318N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121775
Gene: ENSMUSG00000079020
AA Change: D318N

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

Meta Mutation Damage Score

0.0679

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.2%
20x: 93.0%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	A	T	11: 69,773,202 (GRCm39)		probably null	Het
Acat1	T	C	9: 53,496,183 (GRCm39)	D318G	probably benign	Het
Ahdc1	T	C	4: 132,791,002 (GRCm39)	F748L	probably benign	Het
Alkbh8	T	A	9: 3,347,916 (GRCm39)		probably null	Het
Arhgef26	A	G	3: 62,247,449 (GRCm39)	T178A	probably benign	Het
Bid	C	T	6: 120,874,216 (GRCm39)	A110T	possibly damaging	Het
Ccdc180	T	C	4: 45,909,359 (GRCm39)	V509A	possibly damaging	Het
Ccdc39	T	C	3: 33,869,634 (GRCm39)	E731G	probably benign	Het
Cenpf	A	G	1: 189,374,998 (GRCm39)	V2931A	probably damaging	Het
Cobl	A	T	11: 12,325,853 (GRCm39)	N207K	probably damaging	Het
Col14a1	T	A	15: 55,273,584 (GRCm39)	W718R	unknown	Het
Dnah7a	A	G	1: 53,507,828 (GRCm39)	I3081T	probably damaging	Het
Dync1h1	T	C	12: 110,615,698 (GRCm39)	V2977A	probably damaging	Het
Ephb4	A	G	5: 137,364,796 (GRCm39)		probably benign	Het
Eri3	T	C	4: 117,422,104 (GRCm39)		probably benign	Het
Fbxo24	A	G	5: 137,617,891 (GRCm39)	V291A	probably damaging	Het
Glra1	A	C	11: 55,405,896 (GRCm39)	S282A	probably benign	Het
Gm7589	C	A	9: 59,053,325 (GRCm39)		noncoding transcript	Het
H6pd	T	C	4: 150,066,872 (GRCm39)	N505D	probably benign	Het
Hdlbp	T	A	1: 93,348,853 (GRCm39)	N566Y	probably damaging	Het
Hsp90aa1	C	A	12: 110,659,254 (GRCm39)	K514N	probably damaging	Het
Impdh1	A	T	6: 29,206,477 (GRCm39)	V120D	probably damaging	Het
Katnip	A	G	7: 125,465,627 (GRCm39)	T1360A	probably benign	Het
Loxhd1	C	T	18: 77,490,632 (GRCm39)	P1411S	possibly damaging	Het
Lpl	A	G	8: 69,349,281 (GRCm39)	E269G	probably damaging	Het
Map1a	G	T	2: 121,136,701 (GRCm39)	E2268*	probably null	Het
Mark1	T	C	1: 184,660,245 (GRCm39)	E137G	probably damaging	Het
Mki67	A	T	7: 135,300,005 (GRCm39)	S1676R	possibly damaging	Het
Mogat2	T	C	7: 98,872,722 (GRCm39)	Y154C	possibly damaging	Het
Myo18a	C	G	11: 77,732,405 (GRCm39)	I859M	probably benign	Het
Myo7a	A	G	7: 97,756,215 (GRCm39)	V39A	probably benign	Het
Nedd4	T	A	9: 72,584,668 (GRCm39)	I123N	probably damaging	Het
Obscn	A	G	11: 58,977,754 (GRCm39)	V1966A	probably benign	Het
Or7g33	T	C	9: 19,448,842 (GRCm39)	N128S	probably benign	Het
Orc3	T	G	4: 34,599,748 (GRCm39)	N77T	probably benign	Het
Penk	A	G	4: 4,134,287 (GRCm39)	M120T	probably benign	Het
Phf7	G	A	14: 30,962,362 (GRCm39)	Q148*	probably null	Het
Pkhd1l1	G	A	15: 44,368,943 (GRCm39)	V863I	probably damaging	Het
Pkhd1l1	C	T	15: 44,452,993 (GRCm39)	R3973C	probably damaging	Het
Polq	C	T	16: 36,862,109 (GRCm39)	T264M	probably damaging	Het
Ptprb	A	T	10: 116,203,437 (GRCm39)	T2070S	probably damaging	Het
Ralgapb	T	C	2: 158,272,453 (GRCm39)	F169S	probably damaging	Het
Rapgef5	G	T	12: 117,685,084 (GRCm39)	A278S	probably benign	Het
Ripor2	G	T	13: 24,861,824 (GRCm39)	E203*	probably null	Het
Setx	T	C	2: 29,069,698 (GRCm39)	L2501P	probably benign	Het
Sh3bgrl2	C	T	9: 83,459,684 (GRCm39)		probably benign	Het
Slc35b1	T	A	11: 95,276,689 (GRCm39)	V56D	probably damaging	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Stat4	T	A	1: 52,053,086 (GRCm39)	V89D	probably benign	Het
Tek	T	A	4: 94,627,943 (GRCm39)		probably benign	Het
Tert	T	A	13: 73,796,473 (GRCm39)	F1068Y	probably damaging	Het
Trim33	T	A	3: 103,217,670 (GRCm39)	I205K	probably damaging	Het
Vmn1r212	A	T	13: 23,067,562 (GRCm39)	I257K	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TGCTAGAAGCCTGCCTGTGAAAC -3'
(R):5'- GCTCTGCATCTCTTCAGCATCGAG -3'

Sequencing Primer
(F):5'- TATCAAGCAAGGTGTCGTCC -3'
(R):5'- CTTCAGCATCGAGGAGGAGC -3'

Posted On

2014-02-11