Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01124:Fthl17d'

53347

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fthl17d

Ensembl Gene

ENSMUSG00000078206

Gene Name

ferritin, heavy polypeptide-like 17, member D

Synonyms

Gm14458

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01124

Quality Score

Status

Chromosome

Chromosomal Location

8852179-8852911 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8852827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 3 (E3G)

Ref Sequence

ENSEMBL: ENSMUSP00000100621 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105004]

AlphaFold

Q3SXD1

Predicted Effect

probably benign
Transcript: ENSMUST00000105004
AA Change: E3G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000100621
Gene: ENSMUSG00000078206
AA Change: E3G

Domain	Start	End	E-Value	Type
Pfam:Ferritin	17	158	2.4e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148069

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ascc3	T	C	10: 50,608,569 (GRCm39)	I1477T	probably damaging	Het
Baat	A	G	4: 49,490,391 (GRCm39)	I231T	possibly damaging	Het
Cactin	T	C	10: 81,160,184 (GRCm39)	S426P	possibly damaging	Het
Cfh	A	T	1: 140,110,999 (GRCm39)	F6I	probably benign	Het
Clec4a2	C	T	6: 123,116,037 (GRCm39)		probably benign	Het
Col12a1	A	G	9: 79,611,129 (GRCm39)	S148P	probably damaging	Het
Cubn	G	T	2: 13,482,904 (GRCm39)	Q281K	possibly damaging	Het
Cyp2c65	T	A	19: 39,081,954 (GRCm39)		probably benign	Het
Dennd4b	A	T	3: 90,176,381 (GRCm39)	T243S	possibly damaging	Het
Epha8	C	T	4: 136,663,394 (GRCm39)	G518D	probably damaging	Het
Fmo3	G	A	1: 162,785,830 (GRCm39)	R387C	probably damaging	Het
Foxo6	T	C	4: 120,126,349 (GRCm39)	T149A	probably benign	Het
Gm10521	A	G	1: 171,724,010 (GRCm39)	Y107C	unknown	Het
Ipo8	T	A	6: 148,678,874 (GRCm39)	E908V	probably benign	Het
Kcnd2	T	C	6: 21,217,216 (GRCm39)	S307P	probably damaging	Het
Klf3	A	G	5: 64,974,123 (GRCm39)	M3V	possibly damaging	Het
Ldb3	T	A	14: 34,266,157 (GRCm39)	E417D	probably damaging	Het
Lrch1	A	T	14: 74,994,503 (GRCm39)	D673E	probably benign	Het
Map3k4	T	C	17: 12,474,087 (GRCm39)	K865E	probably benign	Het
Muc4	G	A	16: 32,589,104 (GRCm39)	V754I	possibly damaging	Het
Nek4	A	G	14: 30,692,219 (GRCm39)	N223D	probably benign	Het
Nell2	G	A	15: 95,194,060 (GRCm39)	T551M	probably damaging	Het
Nup155	T	A	15: 8,183,163 (GRCm39)	M1241K	probably damaging	Het
Or2t49	A	T	11: 58,393,020 (GRCm39)	S121T	possibly damaging	Het
Or5i1	T	C	2: 87,613,720 (GRCm39)	F279L	probably benign	Het
Orc1	T	C	4: 108,445,984 (GRCm39)		probably benign	Het
Pclo	T	C	5: 14,764,343 (GRCm39)	I4272T	unknown	Het
Ppp1r12c	A	G	7: 4,500,344 (GRCm39)		probably benign	Het
Prcp	A	G	7: 92,559,416 (GRCm39)	E160G	probably benign	Het
Prl3d3	G	A	13: 27,343,090 (GRCm39)	R92Q	possibly damaging	Het
Prl6a1	T	A	13: 27,500,347 (GRCm39)	M106K	possibly damaging	Het
Slc22a1	T	A	17: 12,869,749 (GRCm39)		probably benign	Het
Slco3a1	A	G	7: 73,934,295 (GRCm39)	Y626H	probably damaging	Het
Smtn	A	G	11: 3,476,326 (GRCm39)		probably null	Het
Snx30	T	C	4: 59,886,404 (GRCm39)		probably benign	Het
Spock2	A	G	10: 59,967,209 (GRCm39)	D393G	unknown	Het
Trem3	T	G	17: 48,556,829 (GRCm39)	L100R	probably damaging	Het
Trpm2	A	T	10: 77,781,659 (GRCm39)		probably benign	Het
Ubr1	T	C	2: 120,745,386 (GRCm39)	M901V	probably benign	Het
Usp28	T	A	9: 48,948,513 (GRCm39)	S873T	probably damaging	Het
Vmn1r86	T	C	7: 12,836,856 (GRCm39)	I7V	probably benign	Het
Xirp2	T	C	2: 67,338,959 (GRCm39)	L400P	probably damaging	Het

Posted On

2013-06-21