Mutagenetix > Incidental Mutation

Incidental Mutation 'R5550:Kank4'

435083

Institutional Source

Beutler Lab

Gene Symbol

Kank4

Ensembl Gene

ENSMUSG00000035407

Gene Name

KN motif and ankyrin repeat domains 4

Synonyms

Ankrd38

MMRRC Submission

043107-MU

Accession Numbers

Essential gene?

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

Stock #

R5550 (G1)

Quality Score

207

Status

Not validated

Chromosome

Chromosomal Location

98643135-98705774 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98659678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 800 (F800S)

Ref Sequence

ENSEMBL: ENSMUSP00000099851 (fasta)

Gene Model

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

AlphaFold

Q6P9J5

Predicted Effect

probably benign
Transcript: ENSMUST00000102790
AA Change: F800S

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099851
Gene: ENSMUSG00000035407
AA Change: F800S

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

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,900,129 (GRCm39)	I1295M	probably benign	Het
Adgrb2	G	T	4: 129,908,727 (GRCm39)		probably null	Het
Adig	A	T	2: 158,349,880 (GRCm39)		probably benign	Het
Atp5po	C	A	16: 91,727,292 (GRCm39)	V15F	probably damaging	Het
Bdh2	A	G	3: 134,994,074 (GRCm39)	K52R	probably benign	Het
Bud23	A	G	5: 135,092,744 (GRCm39)	V27A	probably benign	Het
Ces2b	A	G	8: 105,565,069 (GRCm39)	D551G	probably benign	Het
Csmd3	G	C	15: 48,048,753 (GRCm39)	S446C	probably damaging	Het
Dio3	A	T	12: 110,246,560 (GRCm39)	T299S	probably benign	Het
Dnah1	T	A	14: 31,038,665 (GRCm39)	I139F	probably benign	Het
Dpy30	A	G	17: 74,622,920 (GRCm39)	Y21H	probably benign	Het
Gbp4	C	T	5: 105,269,911 (GRCm39)	V306M	probably damaging	Het
Gcat	G	A	15: 78,926,411 (GRCm39)	V94M	probably benign	Het
H2bc27	A	G	11: 58,840,146 (GRCm39)	*127W	probably null	Het
Henmt1	A	G	3: 108,861,184 (GRCm39)	Y69C	probably damaging	Het
Lrrc37a	T	A	11: 103,389,003 (GRCm39)	T2141S	unknown	Het
Map3k4	G	A	17: 12,462,445 (GRCm39)	R1143*	probably null	Het
Mdc1	A	G	17: 36,156,776 (GRCm39)	D61G	possibly damaging	Het
Nfkbid	T	A	7: 30,125,426 (GRCm39)	L303Q	probably damaging	Het
Or2ag15	T	C	7: 106,340,340 (GRCm39)	N267S	probably benign	Het
Or6c75	A	G	10: 129,337,652 (GRCm39)	N300D	probably damaging	Het
P2ry1	T	C	3: 60,911,232 (GRCm39)	C124R	probably damaging	Het
Sntg1	C	T	1: 8,695,008 (GRCm39)	C153Y	probably damaging	Het
Speg	A	T	1: 75,405,744 (GRCm39)	T2983S	probably damaging	Het
Tbc1d2	G	A	4: 46,646,138 (GRCm39)	P163S	probably benign	Het
Tdpoz4	A	T	3: 93,704,806 (GRCm39)	T368S	probably benign	Het
Tnks2	T	A	19: 36,839,746 (GRCm39)	V78E	probably damaging	Het
Trip12	A	G	1: 84,738,820 (GRCm39)	C709R	probably damaging	Het
Xpo5	T	A	17: 46,545,418 (GRCm39)	V828D	possibly damaging	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
R0855:Kank4	UTSW	4	98,659,681 (GRCm39)	missense	probably damaging	1.00
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
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'- GTAGCTTGACAATGGCGAAG -3'
(R):5'- TTGGGCATTGAATGTGCAGC -3'

Sequencing Primer
(F):5'- CTTGACAATGGCGAAGTTGGAGTG -3'
(R):5'- CATTGAATGTGCAGCAGGATTC -3'

Posted On

2016-10-24