Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01916:A430005L14Rik'

179959

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

A430005L14Rik

Ensembl Gene

ENSMUSG00000047613

Gene Name

RIKEN cDNA A430005L14 gene

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01916

Quality Score

Status

Chromosome

Chromosomal Location

154041694-154046382 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 154045997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 214 (F214L)

Ref Sequence

ENSEMBL: ENSMUSP00000054638 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030893] [ENSMUST00000058393] [ENSMUST00000105645] [ENSMUST00000133607] [ENSMUST00000147826] [ENSMUST00000141493]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030893

SMART Domains

Protein: ENSMUSP00000030893
Gene: ENSMUSG00000029027

Domain	Start	End	E-Value	Type
CAD	9	81	2.48e-41	SMART
Pfam:DFF40	103	324	9.4e-97	PFAM
low complexity region	330	344	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058393
AA Change: F214L

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000054638
Gene: ENSMUSG00000047613
AA Change: F214L

Domain	Start	End	E-Value	Type
Pfam:UPF0688	6	228	9.9e-99	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105645
AA Change: F176L

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128457

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133524

Predicted Effect

probably benign
Transcript: ENSMUST00000133607

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139967

Predicted Effect

probably benign
Transcript: ENSMUST00000147826

Predicted Effect

probably benign
Transcript: ENSMUST00000141493

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	C	11: 109,684,937 (GRCm39)	T187A	probably damaging	Het
A830018L16Rik	C	A	1: 11,818,331 (GRCm39)		probably benign	Het
Adgrd1	T	C	5: 129,209,902 (GRCm39)	S342P	probably benign	Het
Aldh4a1	A	G	4: 139,371,457 (GRCm39)	Y457C	probably damaging	Het
Ankrd7	A	T	6: 18,868,250 (GRCm39)	E124V	possibly damaging	Het
Atad5	T	A	11: 80,003,665 (GRCm39)		probably null	Het
Card14	T	C	11: 119,233,971 (GRCm39)	Y854H	probably benign	Het
Ccdc85c	T	C	12: 108,174,103 (GRCm39)	H355R	probably damaging	Het
Ccr3	T	A	9: 123,829,589 (GRCm39)	V308D	probably damaging	Het
Cep170	T	C	1: 176,567,476 (GRCm39)		probably benign	Het
Cmtr2	C	A	8: 110,948,580 (GRCm39)	Q297K	probably benign	Het
Col19a1	A	C	1: 24,573,322 (GRCm39)	L150R	unknown	Het
Cwf19l2	T	C	9: 3,477,869 (GRCm39)	I858T	possibly damaging	Het
Cyp39a1	C	T	17: 44,041,941 (GRCm39)	P383S	probably damaging	Het
Ddi2	C	T	4: 141,422,709 (GRCm39)		probably benign	Het
Dnah17	T	G	11: 118,016,114 (GRCm39)	I342L	probably benign	Het
Efhc1	T	C	1: 21,048,973 (GRCm39)	I462T	probably damaging	Het
Ephx4	A	T	5: 107,553,896 (GRCm39)		probably null	Het
Fam193b	A	G	13: 55,698,031 (GRCm39)		probably benign	Het
Fbn1	T	C	2: 125,157,366 (GRCm39)	N2306D	possibly damaging	Het
Folr1	A	T	7: 101,507,947 (GRCm39)	H164Q	probably benign	Het
Fut10	T	C	8: 31,725,734 (GRCm39)	V163A	probably benign	Het
Gal3st4	G	A	5: 138,269,197 (GRCm39)	R83C	probably damaging	Het
Galnt16	T	C	12: 80,639,264 (GRCm39)		probably null	Het
Gata5	G	A	2: 179,968,734 (GRCm39)	S380F	possibly damaging	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm4787	A	T	12: 81,424,218 (GRCm39)	L647M	probably benign	Het
Gvin3	T	G	7: 106,201,033 (GRCm39)	H737P	probably benign	Het
Hcfc2	A	G	10: 82,570,217 (GRCm39)	K523E	possibly damaging	Het
Ift70a1	C	A	2: 75,811,223 (GRCm39)	V287L	probably damaging	Het
Igkv6-15	A	T	6: 70,383,458 (GRCm39)	Y114*	probably null	Het
Il10ra	A	T	9: 45,167,444 (GRCm39)	L369Q	probably damaging	Het
Il6st	A	G	13: 112,616,606 (GRCm39)	K51R	possibly damaging	Het
Kif26a	C	T	12: 112,143,328 (GRCm39)	P1194L	possibly damaging	Het
Kntc1	T	G	5: 123,939,976 (GRCm39)	L1590R	probably damaging	Het
Lipo3	G	T	19: 33,762,182 (GRCm39)	A105E	probably damaging	Het
Macf1	T	A	4: 123,335,423 (GRCm39)	S4382C	probably damaging	Het
Macf1	C	T	4: 123,369,830 (GRCm39)	E79K	probably damaging	Het
Nmnat2	T	C	1: 152,969,792 (GRCm39)	I195T	probably damaging	Het
Or11g25	A	G	14: 50,722,950 (GRCm39)	T12A	probably benign	Het
Pcdhb13	A	G	18: 37,576,914 (GRCm39)	T431A	possibly damaging	Het
Pcgf3	G	A	5: 108,634,045 (GRCm39)	G101D	probably benign	Het
Phip	T	C	9: 82,772,522 (GRCm39)	D1070G	possibly damaging	Het
Ren1	A	G	1: 133,286,150 (GRCm39)	H231R	probably benign	Het
Sox9	C	A	11: 112,675,500 (GRCm39)	Q230K	probably benign	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Stard9	T	A	2: 120,498,497 (GRCm39)	Y154N	probably damaging	Het
Thnsl1	A	T	2: 21,217,476 (GRCm39)	N410I	possibly damaging	Het
Tnfrsf21	A	T	17: 43,350,694 (GRCm39)	E286V	probably benign	Het
Trbv13-1	A	G	6: 41,093,246 (GRCm39)	R60G	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Wrn	T	A	8: 33,747,252 (GRCm39)	I1110F	possibly damaging	Het
Zfp777	G	T	6: 48,002,276 (GRCm39)	R649S	probably damaging	Het
Zmym6	T	A	4: 127,017,549 (GRCm39)	I1110N	probably damaging	Het

Other mutations in A430005L14Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01628:A430005L14Rik	APN	4	154,045,436 (GRCm39)	missense	probably damaging	1.00
IGL02583:A430005L14Rik	APN	4	154,045,392 (GRCm39)	missense	possibly damaging	0.74
IGL03055:A430005L14Rik	UTSW	4	154,045,092 (GRCm39)	missense	probably benign	0.06
R1677:A430005L14Rik	UTSW	4	154,045,357 (GRCm39)	missense	probably damaging	0.97
R2001:A430005L14Rik	UTSW	4	154,044,314 (GRCm39)	missense	probably damaging	1.00
R5329:A430005L14Rik	UTSW	4	154,044,284 (GRCm39)	missense	probably benign	0.01
R5396:A430005L14Rik	UTSW	4	154,045,410 (GRCm39)	frame shift	probably null
R6422:A430005L14Rik	UTSW	4	154,045,381 (GRCm39)	missense	probably damaging	1.00
R7082:A430005L14Rik	UTSW	4	154,044,221 (GRCm39)	missense	probably damaging	1.00
R7092:A430005L14Rik	UTSW	4	154,045,451 (GRCm39)	critical splice donor site	probably null
R7561:A430005L14Rik	UTSW	4	154,045,097 (GRCm39)	missense	probably benign	0.01
Z1176:A430005L14Rik	UTSW	4	154,045,122 (GRCm39)	frame shift	probably null

Posted On

2014-05-07