Mutagenetix > Incidental Mutation

Incidental Mutation 'R6033:Slc45a4'

480536

Institutional Source

Beutler Lab

Gene Symbol

Slc45a4

Ensembl Gene

ENSMUSG00000079020

Gene Name

solute carrier family 45, member 4

Synonyms

9330175B01Rik

MMRRC Submission

044205-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6033 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73449273-73517611 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 73453825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 716 (A716V)

Ref Sequence

ENSEMBL: ENSMUSP00000121775 (fasta)

Gene Model

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

AlphaFold

Q0P5V9

Predicted Effect

probably damaging
Transcript: ENSMUST00000054266
AA Change: A724V

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

SMART Domains

Protein: ENSMUSP00000054651
Gene: ENSMUSG00000079020
AA Change: A724V

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: A716V

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

SMART Domains

Protein: ENSMUSP00000075577
Gene: ENSMUSG00000079020
AA Change: A716V

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 damaging
Transcript: ENSMUST00000132607
AA Change: A522V

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

SMART Domains

Protein: ENSMUSP00000115827
Gene: ENSMUSG00000079020
AA Change: A522V

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: A651V

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

SMART Domains

Protein: ENSMUSP00000122825
Gene: ENSMUSG00000079020
AA Change: A651V

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: A716V

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

SMART Domains

Protein: ENSMUSP00000121775
Gene: ENSMUSG00000079020
AA Change: A716V

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

0.7693

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 96.9%
20x: 89.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	T	A	8: 84,645,551 (GRCm39)	V58E	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Alas1	A	G	9: 106,118,403 (GRCm39)	S240P	probably damaging	Het
Alox12e	C	T	11: 70,206,839 (GRCm39)	G616D	probably benign	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Ccdc150	G	T	1: 54,324,787 (GRCm39)		probably null	Het
Chct1	A	G	11: 85,069,198 (GRCm39)	E72G	probably damaging	Het
Cmtm8	T	C	9: 114,625,141 (GRCm39)	T97A	probably damaging	Het
Cnmd	T	C	14: 79,898,945 (GRCm39)	S36G	probably benign	Het
Dnah3	A	C	7: 119,670,870 (GRCm39)	N609K	probably benign	Het
Dph1	C	T	11: 75,082,023 (GRCm39)		probably benign	Het
Drosha	G	A	15: 12,926,085 (GRCm39)	A1225T	probably benign	Het
Eid3	T	A	10: 82,703,487 (GRCm39)	I316K	probably damaging	Het
Erich6	A	G	3: 58,530,622 (GRCm39)	L449S	probably benign	Het
Fhod1	T	C	8: 106,063,066 (GRCm39)		probably benign	Het
Glra1	A	G	11: 55,418,245 (GRCm39)	Y250H	probably damaging	Het
Hivep1	A	G	13: 42,310,583 (GRCm39)	E941G	probably benign	Het
Homer2	A	C	7: 81,268,427 (GRCm39)	S78A	possibly damaging	Het
Ica1	T	A	6: 8,630,799 (GRCm39)		probably null	Het
Ifna12	T	C	4: 88,521,154 (GRCm39)	E131G	possibly damaging	Het
Igbp1b	T	C	6: 138,635,207 (GRCm39)	Y79C	probably damaging	Het
Incenp	C	T	19: 9,850,061 (GRCm39)	V871I	probably damaging	Het
Jaml	G	A	9: 45,000,008 (GRCm39)	G60D	probably damaging	Het
Kcp	C	T	6: 29,493,193 (GRCm39)	C110Y	probably damaging	Het
Manba	T	C	3: 135,255,022 (GRCm39)	V460A	probably benign	Het
Myrfl	A	T	10: 116,685,006 (GRCm39)	C125S	probably benign	Het
Ncan	T	C	8: 70,565,240 (GRCm39)	D229G	probably damaging	Het
Ncoa4-ps	A	G	12: 119,225,475 (GRCm39)		noncoding transcript	Het
Nlrp10	A	T	7: 108,523,784 (GRCm39)	D565E	probably benign	Het
Npas2	T	C	1: 39,377,261 (GRCm39)	V541A	probably damaging	Het
Nsg2	G	A	11: 32,005,058 (GRCm39)	V87M	possibly damaging	Het
Or5al6	A	T	2: 85,976,613 (GRCm39)	V155E	probably damaging	Het
Prkd2	C	T	7: 16,599,639 (GRCm39)	R701C	probably damaging	Het
Prr5	A	G	15: 84,626,126 (GRCm39)	E67G	probably damaging	Het
Prss36	T	C	7: 127,533,739 (GRCm39)	R22G	probably benign	Het
Psmd1	T	C	1: 86,064,817 (GRCm39)	Y950H	probably damaging	Het
Slc46a1	T	C	11: 78,356,833 (GRCm39)		probably null	Het
Slc6a5	T	C	7: 49,609,099 (GRCm39)	I768T	probably benign	Het
Slco6c1	C	T	1: 97,009,041 (GRCm39)		probably null	Het
Taar2	A	T	10: 23,816,874 (GRCm39)	H138L	probably benign	Het
Taf2	A	C	15: 54,922,297 (GRCm39)	L330R	probably damaging	Het
Tgm5	T	C	2: 120,901,210 (GRCm39)		probably null	Het
Tmed4	A	T	11: 6,224,491 (GRCm39)	Y56*	probably null	Het
Tmem156	A	T	5: 65,232,964 (GRCm39)	F135L	probably benign	Het
Ttll6	T	C	11: 96,025,713 (GRCm39)	S65P	probably damaging	Het
Ttn	C	T	2: 76,557,171 (GRCm39)	G28199R	probably damaging	Het
Ubn2	T	A	6: 38,447,159 (GRCm39)		probably null	Het
Unc80	A	T	1: 66,512,419 (GRCm39)	T110S	possibly damaging	Het
Vmn2r72	A	T	7: 85,387,137 (GRCm39)	V809E	probably damaging	Het
Zbtb2	A	G	10: 4,318,599 (GRCm39)	F476L	probably damaging	Het
Zbtb24	T	C	10: 41,340,397 (GRCm39)	F498L	probably damaging	Het
Zfp280d	T	A	9: 72,236,419 (GRCm39)	L494Q	probably damaging	Het
Zfp281	T	C	1: 136,554,464 (GRCm39)	S481P	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
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
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

Posted On

2017-06-26