Mutagenetix > Incidental Mutation

Incidental Mutation 'R5202:Slc48a1'

400937

Institutional Source

Beutler Lab

Gene Symbol

Slc48a1

Ensembl Gene

ENSMUSG00000081534

Gene Name

solute carrier family 48 (heme transporter), member 1

Synonyms

4930570C03Rik

MMRRC Submission

042777-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R5202 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97682246-97690573 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97688581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 140 (I140F)

Ref Sequence

ENSEMBL: ENSMUSP00000112644 (fasta)

Gene Model

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

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: I140F

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112644
Gene: ENSMUSG00000081534
AA Change: I140F

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: I81F

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: 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

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	T	2: 68,562,308 (GRCm39)	M312L	probably benign	Het
Adam7	C	A	14: 68,745,305 (GRCm39)	D640Y	possibly damaging	Het
Alcam	T	C	16: 52,094,599 (GRCm39)	Y384C	probably damaging	Het
Apob	A	G	12: 8,063,737 (GRCm39)	E289G	probably damaging	Het
Arhgap15	A	T	2: 43,953,869 (GRCm39)	R198S	probably benign	Het
Bbs2	G	T	8: 94,819,042 (GRCm39)	S109*	probably null	Het
Bfsp1	T	C	2: 143,668,891 (GRCm39)	S569G	probably benign	Het
Chst9	A	T	18: 15,586,296 (GRCm39)	I89N	probably benign	Het
Cntln	A	C	4: 84,889,466 (GRCm39)	E316D	probably benign	Het
Csde1	T	G	3: 102,947,250 (GRCm39)	D67E	probably damaging	Het
Csf2rb	T	G	15: 78,233,257 (GRCm39)	S855A	possibly damaging	Het
Cyp4a10	T	A	4: 115,389,812 (GRCm39)	D472E	probably damaging	Het
Cyp4f18	C	A	8: 72,762,940 (GRCm39)	R49L	probably benign	Het
Daam1	G	T	12: 71,991,048 (GRCm39)	V221L	unknown	Het
Dbr1	T	G	9: 99,465,944 (GRCm39)	D507E	probably benign	Het
Dhrs7c	A	G	11: 67,706,627 (GRCm39)	M188V	probably benign	Het
Dicer1	A	T	12: 104,660,990 (GRCm39)	L1688*	probably null	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
E2f3	G	A	13: 30,102,619 (GRCm39)	T91I	probably damaging	Het
Etaa1	A	T	11: 17,897,853 (GRCm39)	V157E	probably damaging	Het
Foxp2	A	T	6: 15,394,770 (GRCm39)	T157S	probably benign	Het
Frem2	A	G	3: 53,458,767 (GRCm39)	V2034A	probably benign	Het
Fzd10	T	C	5: 128,679,180 (GRCm39)	V300A	possibly damaging	Het
Gbf1	A	T	19: 46,256,893 (GRCm39)	M778L	probably benign	Het
Gm17472	T	A	6: 42,958,068 (GRCm39)	N112K	probably benign	Het
Gria4	T	C	9: 4,424,330 (GRCm39)	K845R	probably benign	Het
Hspa4l	T	A	3: 40,736,001 (GRCm39)	S541T	probably benign	Het
Igkv4-68	G	A	6: 69,281,926 (GRCm39)	R82C	probably damaging	Het
Itgb1	A	T	8: 129,446,491 (GRCm39)	I383F	probably damaging	Het
Kcnk12	T	A	17: 88,054,033 (GRCm39)	K210*	probably null	Het
Limch1	C	G	5: 67,150,516 (GRCm39)	D163E	probably damaging	Het
Mbd4	A	T	6: 115,826,363 (GRCm39)	D188E	probably damaging	Het
Myh9	C	T	15: 77,665,310 (GRCm39)		probably null	Het
Nbeal2	T	C	9: 110,473,734 (GRCm39)	E28G	probably damaging	Het
Nfatc4	A	G	14: 56,064,116 (GRCm39)	E201G	probably damaging	Het
Nrap	G	A	19: 56,323,583 (GRCm39)	H1330Y	probably damaging	Het
Nudt14	A	G	12: 112,898,648 (GRCm39)	S151P	probably damaging	Het
Or14c45	C	A	7: 86,176,324 (GRCm39)	R120S	probably damaging	Het
Or2ag2	T	A	7: 106,485,803 (GRCm39)	T74S	possibly damaging	Het
Or7e165	T	A	9: 19,694,514 (GRCm39)	F28L	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Paqr9	A	G	9: 95,442,163 (GRCm39)	D51G	probably damaging	Het
Pcgf5	T	A	19: 36,414,583 (GRCm39)	F80I	probably damaging	Het
Pkhd1	T	G	1: 20,617,565 (GRCm39)	S1007R	probably benign	Het
Rab30	T	C	7: 92,485,121 (GRCm39)	Y196H	probably benign	Het
Setd2	A	T	9: 110,380,298 (GRCm39)	D1371V	probably damaging	Het
Sorl1	A	G	9: 41,944,879 (GRCm39)	V882A	probably benign	Het
Sptbn2	G	T	19: 4,774,212 (GRCm39)	G88W	probably damaging	Het
Tdrd12	A	G	7: 35,189,455 (GRCm39)	V427A	possibly damaging	Het
Tekt2	T	C	4: 126,218,463 (GRCm39)	D69G	probably benign	Het
Tie1	C	T	4: 118,337,707 (GRCm39)	V463I	probably benign	Het
Tmem150c	G	T	5: 100,227,813 (GRCm39)	H217N	probably damaging	Het
Tnks2	G	A	19: 36,866,252 (GRCm39)	G1080R	probably damaging	Het
Ttll4	G	A	1: 74,727,011 (GRCm39)		probably null	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
R0173:Slc48a1	UTSW	15	97,688,555 (GRCm39)	missense	possibly damaging	0.61
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'- CTCCTAGCTGTGATGCTGTG -3'
(R):5'- ATTGGGCAGATTGGCAGTATCC -3'

Sequencing Primer
(F):5'- GTGGGCAGATCTCTCAAGTTACC -3'
(R):5'- GGCAGATTGGCAGTATCCCTTTAAC -3'

Posted On

2016-07-06