Mutagenetix > Incidental Mutation

Incidental Mutation 'R8708:Ankfn1'

669386

Institutional Source

Beutler Lab

Gene Symbol

Ankfn1

Ensembl Gene

ENSMUSG00000047773

Gene Name

ankyrin-repeat and fibronectin type III domain containing 1

Synonyms

LOC382543

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R8708 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89390223-89777653 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89503930 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 276 (S276R)

Ref Sequence

ENSEMBL: ENSMUSP00000132133 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000128717] [ENSMUST00000169201]

AlphaFold

A0A571BF63

Predicted Effect

SMART Domains

Protein: ENSMUSP00000121290
Gene: ENSMUSG00000047773
AA Change: S296R

Domain	Start	End	E-Value	Type
ANK	136	167	2.47e2	SMART
ANK	173	204	1.46e-2	SMART
coiled coil region	205	236	N/A	INTRINSIC
FN3	271	356	1.66e-7	SMART
low complexity region	586	597	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169201
AA Change: S276R

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000132133
Gene: ENSMUSG00000047773
AA Change: S276R

Domain	Start	End	E-Value	Type
ANK	116	147	2.47e2	SMART
ANK	153	184	1.46e-2	SMART
coiled coil region	185	216	N/A	INTRINSIC
FN3	251	336	1.66e-7	SMART
low complexity region	566	577	N/A	INTRINSIC

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (99/101)

MGI Phenotype

PHENOTYPE: Mutant mice exhibit a variable and subtle head nodding phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	T	C	2: 131,561,480	K230R	probably damaging	Het
Akp3	T	A	1: 87,126,369	Y236*	probably null	Het
Alg11	T	C	8: 22,065,113	F130S	probably damaging	Het
Ankhd1	T	A	18: 36,594,291	H486Q	probably damaging	Het
Ankrd23	T	C	1: 36,534,088	T68A	probably benign	Het
Arhgap23	A	G	11: 97,452,412	T507A	probably benign	Het
Arid1a	A	T	4: 133,681,834	D1787E	unknown	Het
Atad2b	T	A	12: 4,961,253	D504E	probably damaging	Het
Atg2b	T	A	12: 105,669,428		probably benign	Het
Bptf	C	A	11: 107,073,313	S1685I	probably damaging	Het
Bptf	T	A	11: 107,073,314	S1685C	probably damaging	Het
Cacna1c	A	T	6: 118,627,455	I1437N		Het
Capn1	T	C	19: 6,011,298	K197E	probably damaging	Het
Ccdc177	T	C	12: 80,759,117	T128A	probably benign	Het
Ccdc7b	G	T	8: 129,136,614	M9I	probably benign	Het
Celf1	T	A	2: 91,010,580		probably null	Het
Ckap5	T	A	2: 91,595,478	N1285K	probably benign	Het
Col24a1	C	T	3: 145,545,265	T1673I	probably damaging	Het
Dbp	A	G	7: 45,709,801	E300G	probably damaging	Het
Dchs2	C	A	3: 83,128,742	H265Q	probably benign	Het
Dicer1	A	T	12: 104,728,445	S198T	possibly damaging	Het
Dnase1l2	A	T	17: 24,442,292	F86L	probably benign	Het
Dnhd1	T	G	7: 105,694,280	Y1610*	probably null	Het
Dock5	A	G	14: 67,767,371	V1529A	probably benign	Het
Egfr	G	T	11: 16,867,300		probably benign	Het
Exph5	T	A	9: 53,375,796	H1392Q	probably benign	Het
Fam78b	A	G	1: 167,078,763	K164E	possibly damaging	Het
Fignl2	C	A	15: 101,052,853	R516L	unknown	Het
Fndc7	C	T	3: 108,867,212	E577K	probably benign	Het
Fryl	T	C	5: 73,132,562	E107G	probably benign	Het
Gbp10	A	T	5: 105,220,965	M336K	probably damaging	Het
Gm11444	A	T	11: 85,846,897	C156S		Het
Gm6904	A	T	14: 59,244,813	C164S	probably damaging	Het
Gm996	C	A	2: 25,577,802	R699L	possibly damaging	Het
Golga3	C	A	5: 110,202,855	A752E	probably benign	Het
Gper1	G	T	5: 139,425,935	V12L	probably benign	Het
Hmbox1	G	T	14: 64,823,640	A394E	probably damaging	Het
Ighv1-71	T	A	12: 115,742,335	I77L	probably benign	Het
Ing4	A	T	6: 125,047,932	N214Y	probably damaging	Het
Ints8	A	G	4: 11,208,824		probably null	Het
Itpa	T	A	2: 130,675,719	V129E	probably damaging	Het
Itpripl1	T	A	2: 127,141,342	M287L	probably benign	Het
Klc3	T	C	7: 19,395,859	I362V	probably damaging	Het
Ky	T	A	9: 102,525,391		probably benign	Het
Lasp1	A	G	11: 97,806,883	N43S	possibly damaging	Het
Limk2	A	G	11: 3,350,763	M380T	probably benign	Het
Lrp2	T	A	2: 69,459,613	E3627D	probably damaging	Het
Lrrc25	T	C	8: 70,617,809	L80P	probably damaging	Het
Mcoln3	A	T	3: 146,140,521	K529*	probably null	Het
Mdn1	A	C	4: 32,725,854	D2591A	probably damaging	Het
Med12l	A	G	3: 59,252,330	I1267V	probably benign	Het
Mei4	C	A	9: 81,927,542	S226*	probably null	Het
Mios	G	A	6: 8,234,255	V809M	probably benign	Het
Mmp17	G	A	5: 129,595,422	R146Q	possibly damaging	Het
Mob3a	G	A	10: 80,691,384	Q36*	probably null	Het
Myo3a	T	A	2: 22,291,796		probably benign	Het
Naca	A	T	10: 128,048,074	I2125F	probably damaging	Het
Ndst3	A	C	3: 123,528,915	S840A	probably benign	Het
Nlrp4c	T	C	7: 6,065,604	M168T	probably damaging	Het
Nt5c3	A	G	6: 56,897,773		probably null	Het
Olfr1245	C	A	2: 89,575,279	G149V	probably damaging	Het
Olfr1489	T	C	19: 13,634,037	S309P	probably benign	Het
Olfr366	T	A	2: 37,219,944	S152T	probably damaging	Het
Olfr774	T	A	10: 129,238,809	I220N	possibly damaging	Het
Pcgf3	A	G	5: 108,486,197	D107G	probably benign	Het
Pde2a	A	G	7: 101,510,381	D816G	probably damaging	Het
Phf10	T	A	17: 14,955,999	T131S	possibly damaging	Het
Phrf1	A	G	7: 141,232,533	D70G	unknown	Het
Piezo2	A	G	18: 63,093,015	L850S	probably damaging	Het
Plcg1	T	A	2: 160,754,553		probably benign	Het
Plekhh2	A	T	17: 84,574,993	I676L	probably benign	Het
Ppp1r9a	T	G	6: 5,115,196	V804G	probably damaging	Het
Ppt2	T	C	17: 34,625,639	H180R	possibly damaging	Het
Prdm15	T	C	16: 97,816,866	H398R	unknown	Het
Rab26	A	T	17: 24,529,798	M208K	probably damaging	Het
Rab31	A	C	17: 65,667,864		probably benign	Het
Radil	A	G	5: 142,485,449	V1024A	probably damaging	Het
Rorb	A	G	19: 18,983,416	I65T	probably damaging	Het
Sall1	A	T	8: 89,032,855	V207E	probably damaging	Het
Sart3	A	T	5: 113,744,667	M864K	possibly damaging	Het
Sdcbp2	T	A	2: 151,589,537	S277T	probably benign	Het
Sept5	A	G	16: 18,624,872	V100A	probably benign	Het
Sipa1	C	T	19: 5,660,952	R10Q	probably damaging	Het
Ski	A	T	4: 155,160,662	S376T	probably damaging	Het
Slc15a4	A	T	5: 127,596,651	D566E	probably benign	Het
Srgap2	G	A	1: 131,345,806	Q372*	probably null	Het
Stard9	A	G	2: 120,703,578	T3439A	probably damaging	Het
Tln1	T	C	4: 43,534,769		probably benign	Het
Tmco3	A	G	8: 13,295,998	M279V	probably benign	Het
Tmem39b	T	C	4: 129,676,398		probably benign	Het
Trio	T	A	15: 27,732,546	N3083I	probably damaging	Het
Ube3b	G	A	5: 114,393,090	R215Q	probably benign	Het
Ubr1	T	C	2: 120,866,483	N1646S	probably benign	Het
Uqcrc1	T	G	9: 108,947,040	F270C	probably damaging	Het
Vmn2r108	T	A	17: 20,462,425	N839I	probably damaging	Het
Vmn2r75	A	T	7: 86,163,268	S514R	probably damaging	Het
Wdfy4	C	G	14: 32,967,532	V3016L		Het
Wdr11	A	G	7: 129,599,056	N77S	probably benign	Het
Wdr17	C	A	8: 54,640,092		probably benign	Het
Wrn	T	A	8: 33,292,643	N753I	probably damaging	Het
Zan	A	G	5: 137,463,277		probably null	Het
Zfat	T	A	15: 68,084,429	T1203S	possibly damaging	Het
Zfhx2	A	C	14: 55,075,052	S62A	probably benign	Het

Other mutations in Ankfn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01527:Ankfn1	APN	11	89391639	missense	probably benign	0.01
IGL02519:Ankfn1	APN	11	89405678	missense	probably benign
IGL02695:Ankfn1	APN	11	89391819	missense	probably damaging	0.99
IGL02818:Ankfn1	APN	11	89538466	missense	probably benign
IGL02821:Ankfn1	APN	11	89391616	missense	probably benign	0.00
IGL03166:Ankfn1	APN	11	89538438	missense	probably benign	0.19
R0056:Ankfn1	UTSW	11	89391676	missense	possibly damaging	0.71
R0070:Ankfn1	UTSW	11	89392302	missense	probably damaging	0.99
R0070:Ankfn1	UTSW	11	89392302	missense	probably damaging	0.99
R0200:Ankfn1	UTSW	11	89441966	missense	possibly damaging	0.67
R0427:Ankfn1	UTSW	11	89405597	missense	probably damaging	0.99
R0755:Ankfn1	UTSW	11	89392087	missense	probably benign
R1240:Ankfn1	UTSW	11	89392134	missense	probably damaging	0.99
R1534:Ankfn1	UTSW	11	89523151	missense	probably damaging	1.00
R1539:Ankfn1	UTSW	11	89441391	missense	probably damaging	1.00
R1548:Ankfn1	UTSW	11	89526541	missense	probably damaging	0.98
R1595:Ankfn1	UTSW	11	89422767	critical splice donor site	probably null
R1776:Ankfn1	UTSW	11	89526474	missense	possibly damaging	0.74
R1835:Ankfn1	UTSW	11	89447618	missense	probably benign	0.25
R2012:Ankfn1	UTSW	11	89405597	missense	probably damaging	0.99
R2037:Ankfn1	UTSW	11	89456120	missense	probably benign	0.13
R2175:Ankfn1	UTSW	11	89526537	missense	probably damaging	1.00
R2876:Ankfn1	UTSW	11	89391636	missense	possibly damaging	0.90
R3778:Ankfn1	UTSW	11	89441394	missense	probably damaging	1.00
R4720:Ankfn1	UTSW	11	89441426	missense	possibly damaging	0.50
R5001:Ankfn1	UTSW	11	89441442	missense	possibly damaging	0.85
R5318:Ankfn1	UTSW	11	89391928	missense	probably damaging	0.96
R5412:Ankfn1	UTSW	11	89505181	missense	probably benign	0.17
R5434:Ankfn1	UTSW	11	89453187	missense	probably damaging	1.00
R5458:Ankfn1	UTSW	11	89434810	missense	probably benign	0.00
R5710:Ankfn1	UTSW	11	89503925	missense	probably benign	0.02
R6457:Ankfn1	UTSW	11	89391844	missense	probably benign	0.00
R7026:Ankfn1	UTSW	11	89639577	makesense	probably null
R7356:Ankfn1	UTSW	11	89434773	missense	probably damaging	0.97
R7499:Ankfn1	UTSW	11	89391750	missense	probably benign	0.12
R7572:Ankfn1	UTSW	11	89421271	missense	probably benign
R7577:Ankfn1	UTSW	11	89503971	missense	probably benign	0.04
R7582:Ankfn1	UTSW	11	89526619	missense	probably benign	0.04
R7820:Ankfn1	UTSW	11	89421130	missense	probably damaging	0.99
R7908:Ankfn1	UTSW	11	89405534	missense	probably damaging	1.00
R7992:Ankfn1	UTSW	11	89523033	missense	probably benign	0.02
R8137:Ankfn1	UTSW	11	89453177	missense	probably benign	0.00
R8242:Ankfn1	UTSW	11	89526445	critical splice donor site	probably null
R8295:Ankfn1	UTSW	11	89412097	missense	probably benign	0.02
R8556:Ankfn1	UTSW	11	89441442	missense	possibly damaging	0.95
R8815:Ankfn1	UTSW	11	89391776	missense	probably damaging	0.96
R8835:Ankfn1	UTSW	11	89538553	missense	probably benign	0.00
R8928:Ankfn1	UTSW	11	89538453	missense	possibly damaging	0.67
R9011:Ankfn1	UTSW	11	89526618	missense	probably benign	0.00
R9062:Ankfn1	UTSW	11	89434757	missense	probably benign	0.32
R9129:Ankfn1	UTSW	11	89421216	missense
R9153:Ankfn1	UTSW	11	89412019	missense	probably damaging	1.00
R9179:Ankfn1	UTSW	11	89523185	missense	probably benign	0.01
R9272:Ankfn1	UTSW	11	89523049	missense	probably benign	0.10
R9377:Ankfn1	UTSW	11	89441458	missense	possibly damaging	0.90
R9624:Ankfn1	UTSW	11	89523207	missense	probably benign	0.19
R9643:Ankfn1	UTSW	11	89505341	missense	probably benign	0.01
X0012:Ankfn1	UTSW	11	89425544	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCTGAATCTTCACAGTGATGTG -3'
(R):5'- TTCCTCTACCCTTTAAGGAGGC -3'

Sequencing Primer
(F):5'- AATCTTCACAGTGATGTGTGTGG -3'
(R):5'- CTACCCTTTAAGGAGGCAGAAATATG -3'

Posted On

2021-04-30