Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02883:Kank4'

362892

Institutional Source

Australian Phenomics Network (link to record)

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: 0.071) question?

Stock #

IGL02883

Quality Score

Status

Chromosome

Chromosomal Location

98754898-98817537 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98773453 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 765 (E765G)

Ref Sequence

ENSEMBL: ENSMUSP00000099851 (fasta)

Gene Model

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

AlphaFold

Q6P9J5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102790
AA Change: E765G

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099851
Gene: ENSMUSG00000035407
AA Change: E765G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137270

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	A	19: 3,716,972	S186R	possibly damaging	Het
Acap2	A	G	16: 31,096,345		probably benign	Het
Cacna1h	G	T	17: 25,380,532	R1726S	probably damaging	Het
Cdca2	T	C	14: 67,707,497	S133G	probably damaging	Het
Cep295nl	A	T	11: 118,333,909	S36R	probably benign	Het
Crispld1	A	G	1: 17,746,789	N190S	possibly damaging	Het
Crtam	A	G	9: 40,994,501	V44A	probably benign	Het
Crtc1	C	T	8: 70,406,125	G112S	probably benign	Het
Cyp17a1	T	C	19: 46,669,351	N254S	probably benign	Het
Dmrta1	T	C	4: 89,688,774	S156P	probably benign	Het
Eno2	A	C	6: 124,766,209	V188G	probably damaging	Het
Fam20a	A	T	11: 109,675,127	I427N	probably damaging	Het
Fat2	T	C	11: 55,256,618	K3933E	probably benign	Het
Gm15448	A	G	7: 3,822,180	S488P	possibly damaging	Het
Igkv8-30	T	C	6: 70,117,617	M1V	probably null	Het
Ist1	G	A	8: 109,683,668		probably benign	Het
Kat14	T	C	2: 144,393,529	L92S	probably damaging	Het
Kcnu1	G	A	8: 25,849,827	V58I	probably benign	Het
Lrba	T	A	3: 86,445,413	I1956N	probably damaging	Het
Lrba	T	A	3: 86,354,206	V1489E	probably damaging	Het
Mdn1	G	A	4: 32,763,199	V5100I	probably benign	Het
Mkrn2os	C	A	6: 115,586,709	G122*	probably null	Het
Nme3	T	C	17: 24,896,906	Y78H	probably benign	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Ppp2r5c	T	G	12: 110,522,563	V56G	possibly damaging	Het
Pramef25	T	C	4: 143,949,848	T229A	possibly damaging	Het
Prdm10	G	A	9: 31,327,348	V179M	probably damaging	Het
Rab11fip2	A	G	19: 59,906,998	V344A	probably damaging	Het
Selp	G	A	1: 164,130,102	A267T	probably benign	Het
Sf3a1	T	A	11: 4,179,192	W718R	probably damaging	Het
Taar9	T	C	10: 24,109,480	N19D	probably benign	Het
Tas2r113	T	G	6: 132,893,419	S137A	probably damaging	Het
Traf4	A	T	11: 78,161,621	I66N	possibly damaging	Het
Ucp3	A	T	7: 100,480,642	T164S	probably benign	Het
Uggt1	A	T	1: 36,177,615	N96K	probably benign	Het
Uqcc1	T	A	2: 155,911,829	Q42L	possibly damaging	Het
Vmn1r128	A	G	7: 21,349,515	K48R	probably benign	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
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
R8447:Kank4	UTSW	4	98778492	missense	probably damaging	0.99
R8483:Kank4	UTSW	4	98771378	missense	probably damaging	1.00
R8505:Kank4	UTSW	4	98785676	start gained	probably benign
R8805:Kank4	UTSW	4	98780036	missense	possibly damaging	0.93
R8823:Kank4	UTSW	4	98780003	missense	probably damaging	0.99
R8888:Kank4	UTSW	4	98765510	missense	possibly damaging	0.88
R8895:Kank4	UTSW	4	98765510	missense	possibly damaging	0.88
R9155:Kank4	UTSW	4	98778326	missense	probably benign
R9189:Kank4	UTSW	4	98780052	nonsense	probably null
R9291:Kank4	UTSW	4	98778451	missense	probably benign	0.00
X0027:Kank4	UTSW	4	98779923	missense	probably benign	0.00
Z1176:Kank4	UTSW	4	98778294	frame shift	probably null

Posted On

2015-12-18