Mutagenetix > Incidental Mutations

Incidental Mutation 'R8447:Kank4'

654534

Institutional Source

Beutler Lab

Gene Symbol

Kank4

Ensembl Gene

ENSMUSG00000035407

Gene Name

KN motif and ankyrin repeat domains 4

Synonyms

Ankrd38

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R8447 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98754898-98817537 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98778492 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 573 (I573F)

Ref Sequence

ENSEMBL: ENSMUSP00000099851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102790]

Predicted Effect

probably damaging
Transcript: ENSMUST00000102790
AA Change: I573F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099851
Gene: ENSMUSG00000035407
AA Change: I573F

Domain	Start	End	E-Value	Type
Pfam:KN_motif	24	62	5.6e-26	PFAM
low complexity region	280	295	N/A	INTRINSIC
low complexity region	300	320	N/A	INTRINSIC
coiled coil region	345	409	N/A	INTRINSIC
low complexity region	505	521	N/A	INTRINSIC
low complexity region	600	624	N/A	INTRINSIC
low complexity region	625	655	N/A	INTRINSIC
low complexity region	685	709	N/A	INTRINSIC
ANK	838	868	7.42e-4	SMART
ANK	877	905	2.08e3	SMART
ANK	910	939	1.11e-2	SMART
ANK	943	973	8.99e-3	SMART
ANK	977	1006	2.43e3	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	C	5: 8,907,278	T136P	probably damaging	Het
Abcc3	A	T	11: 94,364,060	L639Q	possibly damaging	Het
Adam10	T	A	9: 70,748,118	N289K	probably damaging	Het
Akap12	A	G	10: 4,356,289	E1138G	probably benign	Het
Akr1e1	C	A	13: 4,598,794	L167F	probably damaging	Het
Cars	T	C	7: 143,570,029	K506E	possibly damaging	Het
Cfap46	C	A	7: 139,680,986	R65S	possibly damaging	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Clec16a	C	A	16: 10,741,623	T920K	probably benign	Het
Coro2b	C	T	9: 62,426,560	E351K	probably damaging	Het
Diablo	T	C	5: 123,517,766	E163G	probably damaging	Het
Dnah6	A	G	6: 73,138,774	L1547P	probably damaging	Het
Dynll2	G	T	11: 87,983,893	D37E	probably benign	Het
Eml4	A	T	17: 83,448,227	Q408L	probably damaging	Het
F2rl3	T	C	8: 72,763,335	*397R	probably null	Het
Fance	T	A	17: 28,326,181	L127Q	unknown	Het
Fat4	T	C	3: 38,979,675	V2492A	possibly damaging	Het
Gatsl3	T	C	11: 4,220,165	V81A	probably damaging	Het
Ggta1	C	T	2: 35,402,561	D245N	probably damaging	Het
Gli1	T	C	10: 127,330,237	N1049S	probably benign	Het
Grin2c	A	G	11: 115,257,389	V354A	probably benign	Het
Kdm3a	A	G	6: 71,611,897	V376A	probably benign	Het
Kndc1	T	C	7: 139,901,205	V69A	probably damaging	Het
Lcmt1	T	A	7: 123,421,602	L250Q	probably damaging	Het
Ldhb	A	T	6: 142,498,630	V99D	probably damaging	Het
Lepr	T	C	4: 101,814,491	V904A	probably benign	Het
Lipe	G	T	7: 25,380,592	N710K	probably damaging	Het
Med1	C	A	11: 98,169,414	D230Y	probably damaging	Het
Mpv17l	T	A	16: 13,941,000	I96K	probably benign	Het
Obox1	A	T	7: 15,555,616	Q110L	probably damaging	Het
Olfr1101	T	A	2: 86,988,541	I212F	probably benign	Het
Olfr1281	T	A	2: 111,328,962	I181N	possibly damaging	Het
Olfr1289	T	A	2: 111,483,756	Y137N	probably damaging	Het
Olfr1410	C	A	1: 92,607,772		probably benign	Het
Olfr745	T	C	14: 50,642,551	V84A	probably benign	Het
Olfr809	T	G	10: 129,776,502	M211R	possibly damaging	Het
Pah	T	C	10: 87,581,965		probably null	Het
Pate1	A	T	9: 35,686,335	N40K	probably benign	Het
Pclo	C	A	5: 14,681,409	D182E		Het
Prl7a2	A	T	13: 27,665,958	S44T	possibly damaging	Het
Pwp2	T	A	10: 78,172,039	D894V	probably benign	Het
Ripor2	T	A	13: 24,723,788	L1014Q	probably damaging	Het
Rpe	G	A	1: 66,701,029		probably null	Het
Sh2d3c	A	G	2: 32,752,659	T706A	probably damaging	Het
Slc17a2	T	C	13: 23,822,326	F445S	possibly damaging	Het
Spata20	C	A	11: 94,482,254	L515F	probably damaging	Het
Tcf20	G	A	15: 82,853,236	S1338F	possibly damaging	Het
Tm9sf2	C	A	14: 122,139,768	P236Q	probably damaging	Het
Tmem135	T	C	7: 89,154,032	Y311C	probably damaging	Het
Tmem245	T	C	4: 56,906,261	Q548R	probably benign	Het
Tmem94	G	T	11: 115,797,197	C1190F	possibly damaging	Het
Tmem94	G	A	11: 115,797,870	R1301H	probably benign	Het
Zp3	G	A	5: 135,984,390	G192E	probably damaging	Het

Other mutations in Kank4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:Kank4	APN	4	98778395	missense	probably damaging	0.99
IGL02634:Kank4	APN	4	98778827	missense	probably benign	0.06
IGL02883:Kank4	APN	4	98773453	missense	possibly damaging	0.87
R0040:Kank4	UTSW	4	98779220	missense	probably benign	0.03
R0040:Kank4	UTSW	4	98779220	missense	probably benign	0.03
R0081:Kank4	UTSW	4	98778330	missense	probably benign	0.02
R0219:Kank4	UTSW	4	98778465	missense	probably benign	0.06
R0498:Kank4	UTSW	4	98779636	missense	probably benign
R0609:Kank4	UTSW	4	98777105	missense	probably damaging	0.99
R0855:Kank4	UTSW	4	98771444	missense	probably damaging	1.00
R0865:Kank4	UTSW	4	98774663	splice site	probably benign
R0961:Kank4	UTSW	4	98756519	missense	probably benign	0.02
R1172:Kank4	UTSW	4	98765569	missense	probably damaging	1.00
R1173:Kank4	UTSW	4	98765569	missense	probably damaging	1.00
R1175:Kank4	UTSW	4	98765569	missense	probably damaging	1.00
R1381:Kank4	UTSW	4	98779938	missense	probably damaging	0.98
R1517:Kank4	UTSW	4	98779029	missense	possibly damaging	0.83
R1573:Kank4	UTSW	4	98774836	nonsense	probably null
R1668:Kank4	UTSW	4	98778896	missense	probably damaging	0.98
R2051:Kank4	UTSW	4	98780102	missense	probably damaging	0.99
R2253:Kank4	UTSW	4	98779226	missense	probably damaging	0.99
R2656:Kank4	UTSW	4	98778957	missense	probably damaging	0.99
R3801:Kank4	UTSW	4	98780133	missense	probably damaging	0.97
R3802:Kank4	UTSW	4	98780133	missense	probably damaging	0.97
R3804:Kank4	UTSW	4	98780133	missense	probably damaging	0.97
R3945:Kank4	UTSW	4	98771280	missense	probably damaging	1.00
R4172:Kank4	UTSW	4	98779121	missense	probably damaging	1.00
R4502:Kank4	UTSW	4	98777098	missense	possibly damaging	0.89
R4503:Kank4	UTSW	4	98777098	missense	possibly damaging	0.89
R5024:Kank4	UTSW	4	98785661	missense	probably damaging	0.99
R5105:Kank4	UTSW	4	98779159	missense	probably benign	0.01
R5122:Kank4	UTSW	4	98756567	missense	probably damaging	1.00
R5255:Kank4	UTSW	4	98778972	missense	probably benign
R5484:Kank4	UTSW	4	98774785	missense	probably benign
R5517:Kank4	UTSW	4	98774881	missense	probably damaging	1.00
R5550:Kank4	UTSW	4	98771441	missense	probably benign	0.27
R5667:Kank4	UTSW	4	98765461	critical splice donor site	probably null
R5671:Kank4	UTSW	4	98765461	critical splice donor site	probably null
R5865:Kank4	UTSW	4	98771393	missense	possibly damaging	0.50
R6176:Kank4	UTSW	4	98765554	missense	probably damaging	1.00
R6778:Kank4	UTSW	4	98761505	missense	probably benign	0.01
R7084:Kank4	UTSW	4	98771345	missense	probably damaging	1.00
R7085:Kank4	UTSW	4	98779946	missense	probably benign
R7112:Kank4	UTSW	4	98761521	missense	probably damaging	0.99
R8307:Kank4	UTSW	4	98778678	nonsense	probably null
R8431:Kank4	UTSW	4	98779272	missense	probably benign	0.33
R8483:Kank4	UTSW	4	98771378	missense	probably damaging	1.00
R8505:Kank4	UTSW	4	98785676	start gained	probably benign
X0027:Kank4	UTSW	4	98779923	missense	probably benign	0.00
Z1176:Kank4	UTSW	4	98778294	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GGAGAAGTGAGCATGAATATTTACC -3'
(R):5'- CATGGAGCTCCGGATTGAAG -3'

Sequencing Primer
(F):5'- AGCATGAATATTTACCTGGCGGC -3'
(R):5'- CTCCGGATTGAAGAGGAGGGTTC -3'

Posted On

2020-10-20