Mutagenetix > Incidental Mutation

Incidental Mutation 'R9170:Kank3'

696376

Institutional Source

Beutler Lab

Gene Symbol

Kank3

Ensembl Gene

ENSMUSG00000042099

Gene Name

KN motif and ankyrin repeat domains 3

Synonyms

D17Ertd288e, 0610013D04Rik, Ankrd47

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R9170 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34029497-34041894 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 34037242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 370 (L370R)

Ref Sequence

ENSEMBL: ENSMUSP00000040126 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048560] [ENSMUST00000087342] [ENSMUST00000166693] [ENSMUST00000172649] [ENSMUST00000173019] [ENSMUST00000173789] [ENSMUST00000173844] [ENSMUST00000173879]

AlphaFold

Q9Z1P7

Predicted Effect

probably damaging
Transcript: ENSMUST00000048560
AA Change: L370R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040126
Gene: ENSMUSG00000042099
AA Change: L370R

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
Pfam:KN_motif	32	73	9.1e-24	PFAM
low complexity region	105	125	N/A	INTRINSIC
low complexity region	138	150	N/A	INTRINSIC
coiled coil region	180	229	N/A	INTRINSIC
low complexity region	317	362	N/A	INTRINSIC
low complexity region	369	385	N/A	INTRINSIC
low complexity region	460	478	N/A	INTRINSIC
low complexity region	485	498	N/A	INTRINSIC
ANK	606	636	3.46e-4	SMART
ANK	640	674	2.88e2	SMART
ANK	679	708	5.41e-6	SMART
ANK	712	742	2.73e-2	SMART
Blast:ANK	746	775	4e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000087342

SMART Domains

Protein: ENSMUSP00000110013
Gene: ENSMUSG00000067288

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S28e	1	69	3.6e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166693

SMART Domains

Protein: ENSMUSP00000133642
Gene: ENSMUSG00000067288

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S28e	1	69	3.6e-37	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000172649
AA Change: L182R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133760
Gene: ENSMUSG00000042099
AA Change: L182R

Domain	Start	End	E-Value	Type
coiled coil region	8	41	N/A	INTRINSIC
low complexity region	129	174	N/A	INTRINSIC
low complexity region	181	197	N/A	INTRINSIC
low complexity region	272	290	N/A	INTRINSIC
low complexity region	297	310	N/A	INTRINSIC
ANK	418	448	3.46e-4	SMART
ANK	452	486	2.88e2	SMART
ANK	491	520	5.41e-6	SMART
ANK	524	554	2.73e-2	SMART
Blast:ANK	558	587	3e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000173019

SMART Domains

Protein: ENSMUSP00000134615
Gene: ENSMUSG00000067288

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S28e	1	69	3.6e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173789

SMART Domains

Protein: ENSMUSP00000133625
Gene: ENSMUSG00000042099

Domain	Start	End	E-Value	Type
ANK	22	56	2.88e2	SMART
ANK	61	90	5.41e-6	SMART
ANK	94	124	2.73e-2	SMART
Blast:ANK	128	157	7e-10	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000173844

SMART Domains

Protein: ENSMUSP00000133357
Gene: ENSMUSG00000067288

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S28e	1	69	3.6e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173879

SMART Domains

Protein: ENSMUSP00000134240
Gene: ENSMUSG00000067288

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_S28e	1	56	2.5e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174608

SMART Domains

Protein: ENSMUSP00000134656
Gene: ENSMUSG00000042099

Domain	Start	End	E-Value	Type
SCOP:d1bd8__	2	47	9e-5	SMART
PDB:4HBD\|A	8	48	1e-6	PDB
Blast:ANK	23	52	3e-11	BLAST

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	T	C	12: 81,466,516 (GRCm39)	K702E	probably benign	Het
Agbl1	T	C	7: 75,985,069 (GRCm39)	I162T		Het
Agpat2	A	T	2: 26,487,230 (GRCm39)	I101N	possibly damaging	Het
Amot	A	T	X: 144,244,745 (GRCm39)	L435H		Het
Arhgap32	G	A	9: 32,162,039 (GRCm39)	R330H	possibly damaging	Het
Asb4	T	A	6: 5,390,775 (GRCm39)	I56N	probably benign	Het
Atp2a2	C	T	5: 122,604,087 (GRCm39)	V449M	possibly damaging	Het
Bend4	A	G	5: 67,575,080 (GRCm39)	L267P	probably damaging	Het
Catspere2	T	A	1: 177,967,949 (GRCm39)	N745K	probably benign	Het
Celf2	A	G	2: 6,554,646 (GRCm39)	F484L	possibly damaging	Het
Chd3	T	C	11: 69,241,648 (GRCm39)	D1495G	possibly damaging	Het
Chrna3	A	T	9: 54,933,671 (GRCm39)	V8D	unknown	Het
Cog3	T	C	14: 75,966,802 (GRCm39)	Y466C	probably damaging	Het
Col5a1	A	G	2: 27,841,363 (GRCm39)	E328G	unknown	Het
Col7a1	A	G	9: 108,785,707 (GRCm39)	Y392C	unknown	Het
Crtc3	A	T	7: 80,248,697 (GRCm39)	N255K	probably damaging	Het
Dnaaf1	T	C	8: 120,302,195 (GRCm39)	I32T	probably benign	Het
Dner	A	T	1: 84,512,647 (GRCm39)	C307S	probably damaging	Het
Dzip3	T	C	16: 48,772,401 (GRCm39)	K423E	possibly damaging	Het
Eif2b4	A	G	5: 31,345,393 (GRCm39)	S414P	probably damaging	Het
Elp4	T	C	2: 105,624,891 (GRCm39)	E334G	probably damaging	Het
Emilin2	T	A	17: 71,587,689 (GRCm39)	N141I	probably benign	Het
Fstl1	T	A	16: 37,647,140 (GRCm39)	V170E	probably damaging	Het
Fxn	A	G	19: 24,244,687 (GRCm39)	I151T	probably damaging	Het
Gtf3c4	A	T	2: 28,730,214 (GRCm39)	V9E	possibly damaging	Het
Ino80d	A	G	1: 63,132,607 (GRCm39)	S19P	probably damaging	Het
Large1	T	A	8: 73,542,645 (GRCm39)	Y693F	probably benign	Het
Lig4	C	A	8: 10,022,202 (GRCm39)	W526L	probably damaging	Het
Mib1	C	T	18: 10,726,437 (GRCm39)	P45S	probably benign	Het
Ndufaf6	T	C	4: 11,070,301 (GRCm39)	K107E	probably benign	Het
Nf1	T	C	11: 79,436,291 (GRCm39)	L1977P	probably damaging	Het
Nme4	G	T	17: 26,314,389 (GRCm39)	A13E	probably benign	Het
Or52s6	G	A	7: 103,091,850 (GRCm39)	P160L	probably damaging	Het
Or52z15	T	A	7: 103,332,404 (GRCm39)	F160I	probably benign	Het
Pappa	G	A	4: 65,258,962 (GRCm39)	R1570Q	probably damaging	Het
Parp6	G	A	9: 59,531,213 (GRCm39)	A32T		Het
Pclo	A	G	5: 14,731,068 (GRCm39)	Q64R		Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pramel21	T	C	4: 143,341,600 (GRCm39)	S10P	possibly damaging	Het
Prdm13	C	G	4: 21,679,659 (GRCm39)	R277P	unknown	Het
Prf1	A	C	10: 61,136,216 (GRCm39)	D164A	probably damaging	Het
Rarres1	A	G	3: 67,386,924 (GRCm39)	V226A	probably damaging	Het
Rest	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	5: 77,429,651 (GRCm39)		probably benign	Het
Rnf123	A	G	9: 107,948,375 (GRCm39)	L106P	probably damaging	Het
Scnn1b	A	T	7: 121,511,326 (GRCm39)	T338S	probably benign	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Het
Slc9a5	T	C	8: 106,080,139 (GRCm39)	V94A	probably damaging	Het
Slco4a1	A	G	2: 180,106,478 (GRCm39)	D220G	probably benign	Het
Spata31e2	T	A	1: 26,723,485 (GRCm39)	Q565L	possibly damaging	Het
Sult1c2	T	C	17: 54,269,200 (GRCm39)	D272G	possibly damaging	Het
Tgm1	T	C	14: 55,946,355 (GRCm39)	N427S	probably damaging	Het
Themis	C	A	10: 28,658,233 (GRCm39)	T420N	probably benign	Het
Tnni3	A	T	7: 4,521,376 (GRCm39)	F209L	probably damaging	Het
Ttn	T	A	2: 76,745,912 (GRCm39)	S5046C	probably damaging	Het
Tubb2a	T	A	13: 34,260,628 (GRCm39)	I24L	probably benign	Het
Uevld	C	A	7: 46,587,746 (GRCm39)	G318V	probably damaging	Het
Unkl	T	C	17: 25,448,350 (GRCm39)	S308P	probably benign	Het
Vmn1r159	C	A	7: 22,542,765 (GRCm39)	C89F	probably damaging	Het
Wee2	T	G	6: 40,437,977 (GRCm39)	S302A	probably benign	Het
Ydjc	T	C	16: 16,965,666 (GRCm39)	C144R	probably benign	Het
Zc3h12c	A	G	9: 52,027,419 (GRCm39)	S667P	probably benign	Het
Zfp280b	T	A	10: 75,874,651 (GRCm39)	Y177N	probably benign	Het
Zfp354b	C	T	11: 50,814,362 (GRCm39)	E188K	probably benign	Het

Other mutations in Kank3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00983:Kank3	APN	17	34,040,791 (GRCm39)	missense	probably damaging	1.00
IGL01105:Kank3	APN	17	34,036,375 (GRCm39)	missense	probably damaging	1.00
IGL01106:Kank3	APN	17	34,036,375 (GRCm39)	missense	probably damaging	1.00
IGL01139:Kank3	APN	17	34,036,375 (GRCm39)	missense	probably damaging	1.00
IGL01595:Kank3	APN	17	34,038,154 (GRCm39)	critical splice donor site	probably null
IGL02129:Kank3	APN	17	34,036,465 (GRCm39)	missense	probably benign
IGL02364:Kank3	APN	17	34,037,824 (GRCm39)	missense	probably benign
IGL02540:Kank3	APN	17	34,038,161 (GRCm39)	unclassified	probably benign
R0940:Kank3	UTSW	17	34,036,450 (GRCm39)	missense	probably damaging	1.00
R1387:Kank3	UTSW	17	34,035,205 (GRCm39)	missense	possibly damaging	0.90
R1663:Kank3	UTSW	17	34,037,349 (GRCm39)	missense	probably benign	0.00
R1738:Kank3	UTSW	17	34,036,168 (GRCm39)	missense	probably damaging	1.00
R1752:Kank3	UTSW	17	34,038,791 (GRCm39)	missense	probably damaging	1.00
R4194:Kank3	UTSW	17	34,041,237 (GRCm39)	intron	probably benign
R4921:Kank3	UTSW	17	34,036,174 (GRCm39)	missense	probably damaging	1.00
R5001:Kank3	UTSW	17	34,040,746 (GRCm39)	missense	possibly damaging	0.51
R5011:Kank3	UTSW	17	34,041,044 (GRCm39)	missense	probably damaging	1.00
R5111:Kank3	UTSW	17	34,037,155 (GRCm39)	missense	possibly damaging	0.82
R5147:Kank3	UTSW	17	34,041,176 (GRCm39)	missense	probably damaging	1.00
R5282:Kank3	UTSW	17	34,036,917 (GRCm39)	missense	probably benign	0.00
R5752:Kank3	UTSW	17	34,037,037 (GRCm39)	missense	probably benign
R5943:Kank3	UTSW	17	34,037,375 (GRCm39)	missense	probably damaging	1.00
R6027:Kank3	UTSW	17	34,037,088 (GRCm39)	missense	possibly damaging	0.71
R7936:Kank3	UTSW	17	34,037,841 (GRCm39)	missense	probably benign	0.01
R8837:Kank3	UTSW	17	34,036,627 (GRCm39)	missense	probably damaging	0.98
X0066:Kank3	UTSW	17	34,036,245 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCGAAGTCGTGCCTGAGA -3'
(R):5'- GGCCAAGGTTCAACCAGTAGTG -3'

Sequencing Primer
(F):5'- TGCCTGAGACCCGAGAG -3'
(R):5'- CAGTAGTGGAGACTCACCAACAG -3'

Posted On

2022-02-07