Mutagenetix > Incidental Mutation

Incidental Mutation 'R1692:Ankef1'

191845

Institutional Source

Beutler Lab

Gene Symbol

Ankef1

Ensembl Gene

ENSMUSG00000074771

Gene Name

ankyrin repeat and EF-hand domain containing 1

Synonyms

Ankrd5

MMRRC Submission

039725-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R1692 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

136374241-136397774 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 136392346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 512 (I512F)

Ref Sequence

ENSEMBL: ENSMUSP00000135947 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028726] [ENSMUST00000121717] [ENSMUST00000123214] [ENSMUST00000149712] [ENSMUST00000180246]

AlphaFold

Q9D2J7

Predicted Effect

probably benign
Transcript: ENSMUST00000028726
AA Change: I512F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028726
Gene: ENSMUSG00000074771
AA Change: I512F

Domain	Start	End	E-Value	Type
ANK	47	76	6.92e-4	SMART
ANK	80	109	5.21e1	SMART
ANK	113	144	1.96e3	SMART
ANK	148	179	1.07e2	SMART
ANK	184	213	3.85e-2	SMART
ANK	217	246	3.68e1	SMART
ANK	250	279	2.28e-4	SMART
Blast:ANK	283	312	9e-6	BLAST
low complexity region	412	428	N/A	INTRINSIC
ANK	524	553	1.19e-7	SMART
ANK	557	586	4.63e-5	SMART
ANK	590	619	1.54e-1	SMART
Blast:ANK	623	652	4e-10	BLAST
low complexity region	733	744	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121717
AA Change: I512F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113881
Gene: ENSMUSG00000074771
AA Change: I512F

Domain	Start	End	E-Value	Type
ANK	47	76	6.92e-4	SMART
ANK	80	109	5.21e1	SMART
ANK	113	144	1.96e3	SMART
ANK	148	179	1.07e2	SMART
ANK	184	213	3.85e-2	SMART
ANK	217	246	3.68e1	SMART
ANK	250	279	2.28e-4	SMART
Blast:ANK	283	312	9e-6	BLAST
low complexity region	412	428	N/A	INTRINSIC
ANK	524	553	1.19e-7	SMART
ANK	557	586	4.63e-5	SMART
ANK	590	619	1.54e-1	SMART
Blast:ANK	623	652	4e-10	BLAST
low complexity region	733	744	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123214

SMART Domains

Protein: ENSMUSP00000120000
Gene: ENSMUSG00000074771

Domain	Start	End	E-Value	Type
ANK	47	76	6.92e-4	SMART
ANK	80	109	5.21e1	SMART
ANK	113	144	1.96e3	SMART
ANK	148	179	1.07e2	SMART
ANK	184	213	3.85e-2	SMART
ANK	217	246	3.68e1	SMART
ANK	250	279	2.28e-4	SMART
Blast:ANK	283	312	4e-6	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138967

Predicted Effect

probably benign
Transcript: ENSMUST00000149712

SMART Domains

Protein: ENSMUSP00000114440
Gene: ENSMUSG00000074771

Domain	Start	End	E-Value	Type
ANK	47	76	6.92e-4	SMART
ANK	80	109	5.21e1	SMART
ANK	113	144	1.96e3	SMART
ANK	148	179	1.07e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000180246
AA Change: I512F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135947
Gene: ENSMUSG00000074771
AA Change: I512F

Domain	Start	End	E-Value	Type
ANK	47	76	6.92e-4	SMART
ANK	80	109	5.21e1	SMART
ANK	113	144	1.96e3	SMART
ANK	148	179	1.07e2	SMART
ANK	184	213	3.85e-2	SMART
ANK	217	246	3.68e1	SMART
ANK	250	279	2.28e-4	SMART
Blast:ANK	283	312	9e-6	BLAST
low complexity region	412	428	N/A	INTRINSIC
ANK	524	553	1.19e-7	SMART
ANK	557	586	4.63e-5	SMART
ANK	590	619	1.54e-1	SMART
Blast:ANK	623	652	4e-10	BLAST
low complexity region	733	744	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	A	T	7: 133,489,673 (GRCm39)	*582R	probably null	Het
Agfg2	A	G	5: 137,662,633 (GRCm39)	Y145H	probably damaging	Het
Aldh1a1	C	T	19: 20,608,182 (GRCm39)	P335S	probably damaging	Het
Amotl1	T	C	9: 14,463,018 (GRCm39)	R732G	possibly damaging	Het
Atg9a	A	T	1: 75,166,999 (GRCm39)	D17E	probably benign	Het
Atpsckmt	T	C	15: 31,602,297 (GRCm39)		probably null	Het
Brd8	A	T	18: 34,742,886 (GRCm39)	S253R	probably damaging	Het
Ccnq	T	C	11: 78,642,157 (GRCm39)	E111G	probably benign	Het
Cd79a	T	A	7: 24,600,881 (GRCm39)	M192K	probably damaging	Het
Clcn1	T	G	6: 42,290,032 (GRCm39)	F822L	possibly damaging	Het
Dnajb12	A	G	10: 59,732,199 (GRCm39)	Y346C	probably damaging	Het
Erbb3	A	G	10: 128,407,594 (GRCm39)	I918T	probably benign	Het
Fbxw20	G	T	9: 109,050,777 (GRCm39)	T377K	possibly damaging	Het
Fry	A	G	5: 150,293,692 (GRCm39)	I462V	probably damaging	Het
Gmip	A	G	8: 70,266,553 (GRCm39)	N251S	probably benign	Het
Gpx1	A	G	9: 108,216,674 (GRCm39)	T55A	possibly damaging	Het
Hmcn2	T	C	2: 31,340,856 (GRCm39)	V4443A	possibly damaging	Het
Kdm4d	A	T	9: 14,375,807 (GRCm39)	I17K	probably benign	Het
Lamc3	A	G	2: 31,811,793 (GRCm39)	S927G	probably null	Het
Map7d1	G	A	4: 126,136,101 (GRCm39)	P36S	probably damaging	Het
Mfsd13a	C	A	19: 46,360,515 (GRCm39)	H356N	probably benign	Het
Mtap	C	T	4: 89,095,151 (GRCm39)	R268C	probably benign	Het
Myo1a	C	T	10: 127,555,203 (GRCm39)		probably null	Het
Myom3	T	C	4: 135,502,862 (GRCm39)	L313P	probably benign	Het
Nrxn2	T	A	19: 6,569,298 (GRCm39)	V1391E	probably damaging	Het
Otoa	A	C	7: 120,690,774 (GRCm39)	Q3P	probably damaging	Het
Phldb1	T	C	9: 44,626,717 (GRCm39)	E576G	probably damaging	Het
Pigw	A	C	11: 84,767,892 (GRCm39)	L479R	probably damaging	Het
Pip5k1a	A	G	3: 94,971,041 (GRCm39)	I507T	probably benign	Het
Ppp4r3b	T	A	11: 29,138,123 (GRCm39)	I157N	probably benign	Het
Rrm2b	G	A	15: 37,927,566 (GRCm39)	R115*	probably null	Het
Sall1	C	T	8: 89,755,028 (GRCm39)	S1317N	probably benign	Het
Serpinb6b	T	G	13: 33,158,978 (GRCm39)	F179V	probably damaging	Het
Slc4a8	T	A	15: 100,698,454 (GRCm39)	F648I	probably damaging	Het
Slc5a7	T	C	17: 54,588,754 (GRCm39)	T298A	probably damaging	Het
Slit3	T	C	11: 35,550,171 (GRCm39)	L830P	probably damaging	Het
Smarcc1	T	A	9: 110,003,072 (GRCm39)	N387K	possibly damaging	Het
Tanc2	C	T	11: 105,748,326 (GRCm39)	T486I	probably benign	Het
Tdp1	C	T	12: 99,921,260 (GRCm39)	P599S	probably damaging	Het
Tmem33	A	G	5: 67,425,897 (GRCm39)	D38G	probably null	Het
Uvrag	C	T	7: 98,653,870 (GRCm39)	R247Q	probably benign	Het
Vars1	T	C	17: 35,232,701 (GRCm39)	V875A	probably damaging	Het
Vcl	A	G	14: 21,074,250 (GRCm39)	E879G	probably damaging	Het
Vmn1r231	C	T	17: 21,110,871 (GRCm39)	V15I	probably benign	Het
Zfp609	T	C	9: 65,702,593 (GRCm39)	T20A	probably damaging	Het
Zfp747l1	G	T	7: 126,983,652 (GRCm39)	H483Q	possibly damaging	Het
Zfp959	T	A	17: 56,205,299 (GRCm39)	H445Q	probably damaging	Het
Zmiz2	T	A	11: 6,350,795 (GRCm39)	V515E	probably damaging	Het
Zmym5	G	A	14: 57,041,650 (GRCm39)	T151M	probably damaging	Het
Zxdc	C	T	6: 90,355,933 (GRCm39)	Q481*	probably null	Het

Other mutations in Ankef1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01934:Ankef1	APN	2	136,394,451 (GRCm39)	missense	possibly damaging	0.87
IGL02194:Ankef1	APN	2	136,392,429 (GRCm39)	missense	probably benign	0.01
IGL02318:Ankef1	APN	2	136,386,695 (GRCm39)	missense	possibly damaging	0.48
IGL02398:Ankef1	APN	2	136,397,702 (GRCm39)	missense	probably damaging	0.98
IGL02930:Ankef1	APN	2	136,392,245 (GRCm39)	missense	possibly damaging	0.79
R1482:Ankef1	UTSW	2	136,392,078 (GRCm39)	missense	possibly damaging	0.74
R2045:Ankef1	UTSW	2	136,396,658 (GRCm39)	missense	probably benign	0.00
R2074:Ankef1	UTSW	2	136,387,658 (GRCm39)	missense	possibly damaging	0.62
R4952:Ankef1	UTSW	2	136,392,449 (GRCm39)	missense	probably damaging	1.00
R5057:Ankef1	UTSW	2	136,392,280 (GRCm39)	splice site	probably null
R5113:Ankef1	UTSW	2	136,394,361 (GRCm39)	missense	probably benign	0.20
R5743:Ankef1	UTSW	2	136,391,629 (GRCm39)	splice site	probably null
R6120:Ankef1	UTSW	2	136,392,296 (GRCm39)	missense	probably benign	0.04
R6243:Ankef1	UTSW	2	136,379,077 (GRCm39)	missense	probably damaging	0.96
R7456:Ankef1	UTSW	2	136,387,734 (GRCm39)	missense	probably benign	0.01
R7898:Ankef1	UTSW	2	136,395,618 (GRCm39)	missense	probably benign	0.05
R8421:Ankef1	UTSW	2	136,379,085 (GRCm39)	missense	probably damaging	1.00
R9054:Ankef1	UTSW	2	136,395,594 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGCGTAGTCAGCAAAGATGACTTCG -3'
(R):5'- TGTCCACTGCAAAGGGACCAAC -3'

Sequencing Primer
(F):5'- CCGTTGCTCAAATGCACG -3'
(R):5'- TGCAAAGGGACCAACAAACAC -3'

Posted On

2014-05-14