Mutagenetix > Incidental Mutation

Incidental Mutation 'R0855:Kank4'

82683

Institutional Source

Beutler Lab

Gene Symbol

Kank4

Ensembl Gene

ENSMUSG00000035407

Gene Name

KN motif and ankyrin repeat domains 4

Synonyms

Ankrd38

MMRRC Submission

039034-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R0855 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98643135-98705774 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 98659681 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 799 (W799L)

Ref Sequence

ENSEMBL: ENSMUSP00000099851 (fasta)

Gene Model

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

AlphaFold

Q6P9J5

Predicted Effect

probably damaging
Transcript: ENSMUST00000102790
AA Change: W799L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099851
Gene: ENSMUSG00000035407
AA Change: W799L

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

Meta Mutation Damage Score

0.5987

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.9%

Validation Efficiency

97% (35/36)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700046A07Rik	A	G	18: 62,886,414 (GRCm39)		noncoding transcript	Het
Ak3	T	C	19: 29,000,345 (GRCm39)	K189E	probably benign	Het
Anks3	A	T	16: 4,773,811 (GRCm39)		probably benign	Het
Ash1l	C	A	3: 88,961,761 (GRCm39)	H2378N	possibly damaging	Het
Baz1a	A	G	12: 54,947,348 (GRCm39)		probably benign	Het
Bicra	A	G	7: 15,705,929 (GRCm39)	F1504S	probably damaging	Het
Blzf1	T	C	1: 164,119,950 (GRCm39)	T353A	possibly damaging	Het
Btn1a1	C	A	13: 23,648,489 (GRCm39)	V115F	probably damaging	Het
Cd38	T	A	5: 44,060,927 (GRCm39)		probably null	Het
Cep250	T	C	2: 155,806,031 (GRCm39)	C109R	probably damaging	Het
Cnksr1	C	T	4: 133,960,377 (GRCm39)		probably benign	Het
Dmxl2	T	A	9: 54,273,724 (GRCm39)	N3048I	probably benign	Het
Impdh1	T	A	6: 29,206,971 (GRCm39)	H116L	probably damaging	Het
Kcnk7	C	T	19: 5,756,103 (GRCm39)	H110Y	probably benign	Het
Mak	T	C	13: 41,223,640 (GRCm39)	E25G	probably damaging	Het
Mrpl54	G	A	10: 81,102,759 (GRCm39)		probably benign	Het
Myh10	A	C	11: 68,702,627 (GRCm39)	D1767A	possibly damaging	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Ndufaf6	A	T	4: 11,051,169 (GRCm39)	H310Q	probably damaging	Het
Osbpl6	G	T	2: 76,415,477 (GRCm39)	G467V	probably damaging	Het
Osbpl6	A	G	2: 76,422,183 (GRCm39)	E673G	probably damaging	Het
Picalm	T	A	7: 89,840,356 (GRCm39)	D458E	possibly damaging	Het
Ppp2ca	G	A	11: 52,012,752 (GRCm39)	R294H	probably benign	Het
Prdm14	T	A	1: 13,195,761 (GRCm39)	N100I	probably benign	Het
Rbbp6	A	G	7: 122,591,471 (GRCm39)	T510A	probably benign	Het
Sars1	C	A	3: 108,334,248 (GRCm39)	E503D	probably benign	Het
Smtn	T	C	11: 3,471,880 (GRCm39)	D853G	probably damaging	Het
Tbx20	A	G	9: 24,636,908 (GRCm39)	M393T	probably benign	Het
Thada	T	C	17: 84,744,083 (GRCm39)	T742A	probably damaging	Het
Tmem63a	T	C	1: 180,788,625 (GRCm39)	S321P	possibly damaging	Het
Trim24	T	A	6: 37,892,137 (GRCm39)	C223*	probably null	Het
Usp48	T	C	4: 137,335,465 (GRCm39)	F213L	probably damaging	Het
Vmn2r109	A	T	17: 20,761,670 (GRCm39)	Y562*	probably null	Het

Other mutations in Kank4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:Kank4	APN	4	98,666,632 (GRCm39)	missense	probably damaging	0.99
IGL02634:Kank4	APN	4	98,667,064 (GRCm39)	missense	probably benign	0.06
IGL02883:Kank4	APN	4	98,661,690 (GRCm39)	missense	possibly damaging	0.87
R0040:Kank4	UTSW	4	98,667,457 (GRCm39)	missense	probably benign	0.03
R0040:Kank4	UTSW	4	98,667,457 (GRCm39)	missense	probably benign	0.03
R0081:Kank4	UTSW	4	98,666,567 (GRCm39)	missense	probably benign	0.02
R0219:Kank4	UTSW	4	98,666,702 (GRCm39)	missense	probably benign	0.06
R0498:Kank4	UTSW	4	98,667,873 (GRCm39)	missense	probably benign
R0609:Kank4	UTSW	4	98,665,342 (GRCm39)	missense	probably damaging	0.99
R0865:Kank4	UTSW	4	98,662,900 (GRCm39)	splice site	probably benign
R0961:Kank4	UTSW	4	98,644,756 (GRCm39)	missense	probably benign	0.02
R1172:Kank4	UTSW	4	98,653,806 (GRCm39)	missense	probably damaging	1.00
R1173:Kank4	UTSW	4	98,653,806 (GRCm39)	missense	probably damaging	1.00
R1175:Kank4	UTSW	4	98,653,806 (GRCm39)	missense	probably damaging	1.00
R1381:Kank4	UTSW	4	98,668,175 (GRCm39)	missense	probably damaging	0.98
R1517:Kank4	UTSW	4	98,667,266 (GRCm39)	missense	possibly damaging	0.83
R1573:Kank4	UTSW	4	98,663,073 (GRCm39)	nonsense	probably null
R1668:Kank4	UTSW	4	98,667,133 (GRCm39)	missense	probably damaging	0.98
R2051:Kank4	UTSW	4	98,668,339 (GRCm39)	missense	probably damaging	0.99
R2253:Kank4	UTSW	4	98,667,463 (GRCm39)	missense	probably damaging	0.99
R2656:Kank4	UTSW	4	98,667,194 (GRCm39)	missense	probably damaging	0.99
R3801:Kank4	UTSW	4	98,668,370 (GRCm39)	missense	probably damaging	0.97
R3802:Kank4	UTSW	4	98,668,370 (GRCm39)	missense	probably damaging	0.97
R3804:Kank4	UTSW	4	98,668,370 (GRCm39)	missense	probably damaging	0.97
R3945:Kank4	UTSW	4	98,659,517 (GRCm39)	missense	probably damaging	1.00
R4172:Kank4	UTSW	4	98,667,358 (GRCm39)	missense	probably damaging	1.00
R4502:Kank4	UTSW	4	98,665,335 (GRCm39)	missense	possibly damaging	0.89
R4503:Kank4	UTSW	4	98,665,335 (GRCm39)	missense	possibly damaging	0.89
R5024:Kank4	UTSW	4	98,673,898 (GRCm39)	missense	probably damaging	0.99
R5105:Kank4	UTSW	4	98,667,396 (GRCm39)	missense	probably benign	0.01
R5122:Kank4	UTSW	4	98,644,804 (GRCm39)	missense	probably damaging	1.00
R5255:Kank4	UTSW	4	98,667,209 (GRCm39)	missense	probably benign
R5484:Kank4	UTSW	4	98,663,022 (GRCm39)	missense	probably benign
R5517:Kank4	UTSW	4	98,663,118 (GRCm39)	missense	probably damaging	1.00
R5550:Kank4	UTSW	4	98,659,678 (GRCm39)	missense	probably benign	0.27
R5667:Kank4	UTSW	4	98,653,698 (GRCm39)	critical splice donor site	probably null
R5671:Kank4	UTSW	4	98,653,698 (GRCm39)	critical splice donor site	probably null
R5865:Kank4	UTSW	4	98,659,630 (GRCm39)	missense	possibly damaging	0.50
R6176:Kank4	UTSW	4	98,653,791 (GRCm39)	missense	probably damaging	1.00
R6778:Kank4	UTSW	4	98,649,742 (GRCm39)	missense	probably benign	0.01
R7084:Kank4	UTSW	4	98,659,582 (GRCm39)	missense	probably damaging	1.00
R7085:Kank4	UTSW	4	98,668,183 (GRCm39)	missense	probably benign
R7112:Kank4	UTSW	4	98,649,758 (GRCm39)	missense	probably damaging	0.99
R8307:Kank4	UTSW	4	98,666,915 (GRCm39)	nonsense	probably null
R8431:Kank4	UTSW	4	98,667,509 (GRCm39)	missense	probably benign	0.33
R8447:Kank4	UTSW	4	98,666,729 (GRCm39)	missense	probably damaging	0.99
R8483:Kank4	UTSW	4	98,659,615 (GRCm39)	missense	probably damaging	1.00
R8505:Kank4	UTSW	4	98,673,913 (GRCm39)	start gained	probably benign
R8805:Kank4	UTSW	4	98,668,273 (GRCm39)	missense	possibly damaging	0.93
R8823:Kank4	UTSW	4	98,668,240 (GRCm39)	missense	probably damaging	0.99
R8888:Kank4	UTSW	4	98,653,747 (GRCm39)	missense	possibly damaging	0.88
R8895:Kank4	UTSW	4	98,653,747 (GRCm39)	missense	possibly damaging	0.88
R9155:Kank4	UTSW	4	98,666,563 (GRCm39)	missense	probably benign
R9189:Kank4	UTSW	4	98,668,289 (GRCm39)	nonsense	probably null
R9291:Kank4	UTSW	4	98,666,688 (GRCm39)	missense	probably benign	0.00
R9509:Kank4	UTSW	4	98,663,104 (GRCm39)	missense	possibly damaging	0.86
R9618:Kank4	UTSW	4	98,653,732 (GRCm39)	missense	possibly damaging	0.76
X0027:Kank4	UTSW	4	98,668,160 (GRCm39)	missense	probably benign	0.00
Z1176:Kank4	UTSW	4	98,666,531 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AACAGCCATTTCTGACCTGTGTCC -3'
(R):5'- ATTCGTGGTCCTGCCATCTCAGAC -3'

Sequencing Primer
(F):5'- TCCAGCAGTAGCTTGACAATG -3'
(R):5'- TGCCATCTCAGACCACCC -3'

Posted On

2013-11-08