Mutagenetix > Incidental Mutation

Incidental Mutation 'R0173:Slc48a1'

23737

Institutional Source

Beutler Lab

Gene Symbol

Slc48a1

Ensembl Gene

ENSMUSG00000081534

Gene Name

solute carrier family 48 (heme transporter), member 1

Synonyms

4930570C03Rik

MMRRC Submission

038445-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R0173 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

97682246-97690573 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97688555 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 131 (H131L)

Ref Sequence

ENSEMBL: ENSMUSP00000112644 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079838] [ENSMUST00000088402] [ENSMUST00000116408] [ENSMUST00000116409] [ENSMUST00000117892] [ENSMUST00000118294] [ENSMUST00000119670] [ENSMUST00000135073] [ENSMUST00000121514] [ENSMUST00000120683]

AlphaFold

Q9D8M3

Predicted Effect

probably benign
Transcript: ENSMUST00000079838

SMART Domains

Protein: ENSMUSP00000078766
Gene: ENSMUSG00000022475

Domain	Start	End	E-Value	Type
low complexity region	79	93	N/A	INTRINSIC
low complexity region	97	113	N/A	INTRINSIC
low complexity region	196	211	N/A	INTRINSIC
low complexity region	357	375	N/A	INTRINSIC
low complexity region	426	438	N/A	INTRINSIC
low complexity region	442	454	N/A	INTRINSIC
low complexity region	485	498	N/A	INTRINSIC
Pfam:Hist_deacetyl	523	853	2.5e-91	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000088402

SMART Domains

Protein: ENSMUSP00000085744
Gene: ENSMUSG00000022475

Domain	Start	End	E-Value	Type
low complexity region	79	93	N/A	INTRINSIC
low complexity region	97	113	N/A	INTRINSIC
low complexity region	151	169	N/A	INTRINSIC
low complexity region	220	235	N/A	INTRINSIC
low complexity region	344	362	N/A	INTRINSIC
low complexity region	420	432	N/A	INTRINSIC
low complexity region	436	448	N/A	INTRINSIC
low complexity region	479	492	N/A	INTRINSIC
Pfam:Hist_deacetyl	517	847	2.5e-91	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116408

SMART Domains

Protein: ENSMUSP00000112109
Gene: ENSMUSG00000022475

Domain	Start	End	E-Value	Type
low complexity region	57	71	N/A	INTRINSIC
low complexity region	75	91	N/A	INTRINSIC
low complexity region	129	147	N/A	INTRINSIC
low complexity region	198	213	N/A	INTRINSIC
low complexity region	322	340	N/A	INTRINSIC
low complexity region	398	410	N/A	INTRINSIC
low complexity region	414	426	N/A	INTRINSIC
low complexity region	457	470	N/A	INTRINSIC
Pfam:Hist_deacetyl	495	825	2.3e-91	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116409

SMART Domains

Protein: ENSMUSP00000112110
Gene: ENSMUSG00000022475

Domain	Start	End	E-Value	Type
low complexity region	57	71	N/A	INTRINSIC
low complexity region	75	91	N/A	INTRINSIC
low complexity region	129	147	N/A	INTRINSIC
low complexity region	198	213	N/A	INTRINSIC
low complexity region	359	377	N/A	INTRINSIC
low complexity region	435	447	N/A	INTRINSIC
low complexity region	451	463	N/A	INTRINSIC
low complexity region	494	507	N/A	INTRINSIC
Pfam:Hist_deacetyl	532	862	9.1e-83	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117892
AA Change: H131L

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112644
Gene: ENSMUSG00000081534
AA Change: H131L

Domain	Start	End	E-Value	Type
Pfam:HRG	8	67	5.3e-11	PFAM
Pfam:HRG	71	122	3.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118294

SMART Domains

Protein: ENSMUSP00000113380
Gene: ENSMUSG00000022475

Domain	Start	End	E-Value	Type
low complexity region	57	71	N/A	INTRINSIC
low complexity region	75	91	N/A	INTRINSIC
low complexity region	129	147	N/A	INTRINSIC
low complexity region	198	213	N/A	INTRINSIC
low complexity region	359	377	N/A	INTRINSIC
low complexity region	428	440	N/A	INTRINSIC
low complexity region	444	456	N/A	INTRINSIC
low complexity region	487	500	N/A	INTRINSIC
Pfam:Hist_deacetyl	525	855	2.6e-91	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119670

SMART Domains

Protein: ENSMUSP00000112459
Gene: ENSMUSG00000022475

Domain	Start	End	E-Value	Type
low complexity region	57	71	N/A	INTRINSIC
low complexity region	75	91	N/A	INTRINSIC
low complexity region	174	189	N/A	INTRINSIC
low complexity region	298	316	N/A	INTRINSIC
low complexity region	374	386	N/A	INTRINSIC
low complexity region	390	402	N/A	INTRINSIC
low complexity region	433	446	N/A	INTRINSIC
Pfam:Hist_deacetyl	471	801	2.3e-91	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151334

Predicted Effect

unknown
Transcript: ENSMUST00000229084
AA Change: H72L

Predicted Effect

probably benign
Transcript: ENSMUST00000135073

SMART Domains

Protein: ENSMUSP00000122485
Gene: ENSMUSG00000081534

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228466

Predicted Effect

probably benign
Transcript: ENSMUST00000121514

SMART Domains

Protein: ENSMUSP00000112641
Gene: ENSMUSG00000022475

Domain	Start	End	E-Value	Type
low complexity region	57	71	N/A	INTRINSIC
low complexity region	75	91	N/A	INTRINSIC
low complexity region	129	147	N/A	INTRINSIC
low complexity region	198	213	N/A	INTRINSIC
low complexity region	322	340	N/A	INTRINSIC
low complexity region	392	405	N/A	INTRINSIC
Pfam:Hist_deacetyl	430	760	9e-92	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120683

SMART Domains

Protein: ENSMUSP00000112446
Gene: ENSMUSG00000022475

Domain	Start	End	E-Value	Type
low complexity region	57	71	N/A	INTRINSIC
low complexity region	75	91	N/A	INTRINSIC
low complexity region	129	147	N/A	INTRINSIC
low complexity region	198	213	N/A	INTRINSIC
low complexity region	322	340	N/A	INTRINSIC
low complexity region	398	410	N/A	INTRINSIC
low complexity region	414	426	N/A	INTRINSIC
low complexity region	457	470	N/A	INTRINSIC
Pfam:Hist_deacetyl	495	623	7.9e-9	PFAM
Pfam:Hist_deacetyl	623	777	3.5e-50	PFAM

Meta Mutation Damage Score

0.2872

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 95.1%

Validation Efficiency

96% (64/67)

MGI Phenotype

PHENOTYPE: An uncharacterized gene trap insertion does not result in an obvious phenotype during the observation period early in life, although abnormalities may still develop at older age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330008L17Rik	G	A	8: 100,148,286 (GRCm39)		noncoding transcript	Het
Akt1s1	C	T	7: 44,502,284 (GRCm39)	P95S	possibly damaging	Het
Ambra1	T	C	2: 91,640,564 (GRCm39)		probably benign	Het
Aunip	T	A	4: 134,250,861 (GRCm39)	W269R	probably damaging	Het
Bmper	A	G	9: 23,136,125 (GRCm39)	M69V	probably benign	Het
Cdh2	A	T	18: 16,783,314 (GRCm39)		probably benign	Het
Cenpe	T	C	3: 134,965,744 (GRCm39)	M2074T	probably benign	Het
Col14a1	C	T	15: 55,351,928 (GRCm39)	P1592S	probably damaging	Het
Csgalnact1	G	A	8: 68,913,681 (GRCm39)	R175C	probably damaging	Het
Dtx1	A	G	5: 120,820,818 (GRCm39)		probably benign	Het
Elmod3	T	C	6: 72,554,571 (GRCm39)	D154G	probably damaging	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Gab1	T	C	8: 81,526,789 (GRCm39)	D103G	possibly damaging	Het
Gon4l	A	G	3: 88,765,710 (GRCm39)	D377G	probably damaging	Het
Gramd1c	C	T	16: 43,818,196 (GRCm39)	R328K	possibly damaging	Het
Hdac3	A	G	18: 38,074,806 (GRCm39)	S312P	probably damaging	Het
Hmcn2	T	C	2: 31,328,343 (GRCm39)		probably null	Het
Intu	T	C	3: 40,629,776 (GRCm39)		probably null	Het
Lnpk	T	C	2: 74,381,409 (GRCm39)	K118R	probably damaging	Het
Lzts3	A	C	2: 130,476,688 (GRCm39)	*587G	probably null	Het
Mctp2	C	T	7: 71,896,855 (GRCm39)		probably null	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mmp23	G	T	4: 155,735,222 (GRCm39)	R374S	possibly damaging	Het
Morc3	G	A	16: 93,629,094 (GRCm39)		probably null	Het
Mymk	C	T	2: 26,952,262 (GRCm39)	A161T	probably damaging	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Neb	T	C	2: 52,133,859 (GRCm39)	S3375G	probably damaging	Het
Nedd1	T	C	10: 92,534,745 (GRCm39)	D255G	probably benign	Het
Nid2	T	C	14: 19,852,400 (GRCm39)		probably benign	Het
Nr1d2	A	G	14: 18,215,502 (GRCm38)		probably benign	Het
Nus1	A	G	10: 52,294,094 (GRCm39)	H86R	possibly damaging	Het
Or5b118	A	T	19: 13,449,065 (GRCm39)	I244F	probably benign	Het
Or7g17	A	G	9: 18,768,325 (GRCm39)	I135V	probably damaging	Het
Plcxd2	A	T	16: 45,785,542 (GRCm39)		probably null	Het
Prdm9	T	A	17: 15,764,275 (GRCm39)	D835V	probably benign	Het
Prdm9	A	G	17: 15,764,297 (GRCm39)	W828R	probably benign	Het
Prkd2	T	C	7: 16,582,969 (GRCm39)	S244P	probably benign	Het
Psmd4	A	T	3: 94,940,234 (GRCm39)	L159H	probably damaging	Het
Qprt	C	T	7: 126,707,543 (GRCm39)	G215E	probably damaging	Het
Rab3gap2	C	A	1: 184,982,104 (GRCm39)	H385Q	possibly damaging	Het
Rapgef5	A	G	12: 117,652,411 (GRCm39)	D300G	probably benign	Het
Rbl1	A	T	2: 157,001,605 (GRCm39)	N894K	probably benign	Het
Rgma	C	T	7: 73,067,302 (GRCm39)	R280W	probably damaging	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Rundc3a	T	A	11: 102,289,071 (GRCm39)		probably benign	Het
Scaf11	A	T	15: 96,318,075 (GRCm39)	D496E	probably benign	Het
Scn9a	T	C	2: 66,363,437 (GRCm39)	Y936C	probably damaging	Het
Sdk1	A	G	5: 142,159,564 (GRCm39)		probably benign	Het
Serpinb9	G	A	13: 33,194,705 (GRCm39)	D154N	probably benign	Het
Slco1a6	T	C	6: 142,048,848 (GRCm39)	N311D	probably benign	Het
Sorl1	A	G	9: 41,979,229 (GRCm39)	V423A	probably damaging	Het
Srrm2	C	A	17: 24,034,103 (GRCm39)		probably benign	Het
Srsf12	A	T	4: 33,226,117 (GRCm39)	S122C	probably damaging	Het
Suclg2	G	C	6: 95,452,154 (GRCm39)		probably benign	Het
Tbpl1	A	T	10: 22,583,523 (GRCm39)	L149*	probably null	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Tmem63a	T	C	1: 180,782,363 (GRCm39)		probably benign	Het
Tut1	C	T	19: 8,942,847 (GRCm39)	R645*	probably null	Het
Ubqln4	T	A	3: 88,462,686 (GRCm39)	D50E	probably benign	Het
Ubr5	A	G	15: 38,004,919 (GRCm39)	S1227P	probably damaging	Het
Vipas39	A	G	12: 87,297,285 (GRCm39)		probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vps26b	G	A	9: 26,924,101 (GRCm39)	T214I	probably benign	Het
Xpc	A	G	6: 91,481,717 (GRCm39)		probably benign	Het

Other mutations in Slc48a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00772:Slc48a1	APN	15	97,687,835 (GRCm39)	missense	probably damaging	1.00
IGL02751:Slc48a1	APN	15	97,687,961 (GRCm39)	intron	probably benign
R5202:Slc48a1	UTSW	15	97,688,581 (GRCm39)	missense	possibly damaging	0.52
R6057:Slc48a1	UTSW	15	97,687,798 (GRCm39)	missense	probably damaging	1.00
R9047:Slc48a1	UTSW	15	97,687,833 (GRCm39)	missense	probably damaging	1.00
Z1088:Slc48a1	UTSW	15	97,688,562 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGCAGAGGCTGATCCTTGTATCCG -3'
(R):5'- CCCAAAAGGGGACCAGACAGATTTC -3'

Sequencing Primer
(F):5'- GCTTTGTAACCAAACATGCAGTG -3'
(R):5'- CCAGACAGATTTCTGAGAAACTG -3'

Posted On

2013-04-16