Mutagenetix > Incidental Mutation

Incidental Mutation 'R9103:Klhl28'

691839

Institutional Source

Beutler Lab

Gene Symbol

Klhl28

Ensembl Gene

ENSMUSG00000020948

Gene Name

kelch-like 28

Synonyms

Btbd5, 4122402F11Rik, 4931401E10Rik, 2810440N09Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R9103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64985607-65012308 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64990300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 547 (D547G)

Ref Sequence

ENSEMBL: ENSMUSP00000021331 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021331] [ENSMUST00000222508]

AlphaFold

Q9CR40

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021331
AA Change: D547G

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021331
Gene: ENSMUSG00000020948
AA Change: D547G

Domain	Start	End	E-Value	Type
BTB	35	132	3.55e-30	SMART
BACK	137	239	1.83e-36	SMART
Kelch	284	331	3.52e-4	SMART
Kelch	332	386	4.23e-7	SMART
Kelch	387	433	1.99e-12	SMART
Kelch	434	479	1.64e-13	SMART
Kelch	480	526	5.12e-15	SMART
Kelch	527	571	5.29e-8	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222508
AA Change: D547G

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (73/73)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	T	A	12: 113,454,558 (GRCm39)	C458*	probably null	Het
Adgra2	G	A	8: 27,603,436 (GRCm39)	G407D	probably damaging	Het
Aox4	G	A	1: 58,296,441 (GRCm39)	G1046E	probably damaging	Het
Arhgap27	A	G	11: 103,251,540 (GRCm39)	Y63H	probably damaging	Het
Ascl3	A	T	7: 109,327,127 (GRCm39)	M64K	probably benign	Het
Cacna2d3	G	A	14: 29,068,971 (GRCm39)	T252I	probably damaging	Het
Capn7	A	G	14: 31,091,732 (GRCm39)	T710A	probably benign	Het
Carmil1	A	G	13: 24,295,836 (GRCm39)	C393R	probably benign	Het
Chd5	A	C	4: 152,461,444 (GRCm39)	E1215A	possibly damaging	Het
Cntnap1	A	G	11: 101,072,094 (GRCm39)	N449S	probably benign	Het
Cpz	G	A	5: 35,675,054 (GRCm39)	S65L	probably benign	Het
Cyp2c68	T	A	19: 39,727,625 (GRCm39)	N118I	possibly damaging	Het
Ddx25	A	T	9: 35,458,085 (GRCm39)	F345I	probably benign	Het
Dennd2d	T	C	3: 106,397,684 (GRCm39)	Y161H		Het
Egfl8	C	T	17: 34,833,210 (GRCm39)	D179N	probably benign	Het
Eif2a	A	G	3: 58,452,461 (GRCm39)	N174S		Het
Farp1	C	T	14: 121,509,104 (GRCm39)	H643Y	possibly damaging	Het
Fat1	G	T	8: 45,404,850 (GRCm39)	V534L	probably benign	Het
Fbxo48	A	G	11: 16,903,556 (GRCm39)	T61A	probably benign	Het
Fnbp4	A	G	2: 90,608,187 (GRCm39)	T970A	probably benign	Het
Foxd1	T	A	13: 98,491,763 (GRCm39)	D212E	possibly damaging	Het
Fstl4	C	A	11: 52,664,696 (GRCm39)	H9N	probably benign	Het
Fyb1	A	G	15: 6,673,232 (GRCm39)	D622G	possibly damaging	Het
Gm4787	T	A	12: 81,425,489 (GRCm39)	H223L	probably benign	Het
Grin3a	A	G	4: 49,771,179 (GRCm39)	V531A	probably damaging	Het
Gzmb	T	C	14: 56,498,622 (GRCm39)	D42G	probably benign	Het
Herc2	T	A	7: 55,784,803 (GRCm39)	Y1416N	possibly damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Hsd17b6	A	G	10: 127,833,876 (GRCm39)	W2R	probably damaging	Het
Hspa4l	T	C	3: 40,715,349 (GRCm39)		probably null	Het
Igtp	A	G	11: 58,097,726 (GRCm39)	E299G		Het
Leng8	G	C	7: 4,146,897 (GRCm39)	R473P	probably damaging	Het
Lin37	T	A	7: 30,257,055 (GRCm39)	N53Y	possibly damaging	Het
Lrp1	G	A	10: 127,430,979 (GRCm39)	Q357*	probably null	Het
Lrrfip2	A	T	9: 111,034,840 (GRCm39)	K176N	probably damaging	Het
Ltbp4	A	G	7: 27,028,186 (GRCm39)	S390P	unknown	Het
Map3k2	G	A	18: 32,353,625 (GRCm39)	R465H	possibly damaging	Het
Mthfd1	T	A	12: 76,350,517 (GRCm39)	V665E	probably damaging	Het
Myh3	A	T	11: 66,989,451 (GRCm39)	I1524F	probably benign	Het
Myo1g	A	G	11: 6,466,153 (GRCm39)	S339P	possibly damaging	Het
Nf1	A	G	11: 79,450,332 (GRCm39)	K506R	probably damaging	Het
Nudt21	A	G	8: 94,746,321 (GRCm39)	I225T	probably benign	Het
Or4c31	A	G	2: 88,291,942 (GRCm39)	K105R	probably benign	Het
Or56b1b	A	T	7: 108,164,780 (GRCm39)	L74Q	probably benign	Het
Or5g9	T	A	2: 85,552,527 (GRCm39)	Y259*	probably null	Het
Or8b3	A	G	9: 38,314,518 (GRCm39)	Y116C	probably damaging	Het
Or8c18	A	T	9: 38,203,969 (GRCm39)	I243F	probably damaging	Het
Pax2	C	T	19: 44,806,968 (GRCm39)	T299I	probably benign	Het
Pde4dip	C	T	3: 97,749,044 (GRCm39)	S99N	probably damaging	Het
Pdlim5	T	A	3: 142,010,174 (GRCm39)	H147L	possibly damaging	Het
Pfkfb3	T	A	2: 11,487,381 (GRCm39)	Y343F	probably damaging	Het
Phf10	A	G	17: 15,174,382 (GRCm39)	I232T	probably damaging	Het
Plcb3	C	T	19: 6,936,288 (GRCm39)	G745D	probably benign	Het
Pramel11	G	A	4: 143,624,381 (GRCm39)	L39F	probably damaging	Het
Recql	C	A	6: 142,322,515 (GRCm39)	C129F	possibly damaging	Het
Rrp1	C	T	10: 78,240,876 (GRCm39)	D288N	unknown	Het
Samd4	T	C	14: 47,254,066 (GRCm39)	Y177H	probably benign	Het
Sim1	T	A	10: 50,785,525 (GRCm39)	M198K	possibly damaging	Het
Six4	T	C	12: 73,155,964 (GRCm39)	I334M	probably damaging	Het
Slc27a6	T	C	18: 58,705,268 (GRCm39)	S217P	probably damaging	Het
Slc2a4	T	A	11: 69,836,218 (GRCm39)	K264N	probably benign	Het
Slc8b1	A	T	5: 120,670,939 (GRCm39)	I476F	probably benign	Het
Smcp	T	C	3: 92,491,838 (GRCm39)	D3G	unknown	Het
Tagap	A	T	17: 8,152,335 (GRCm39)	M507L	probably benign	Het
Thap11	A	G	8: 106,582,780 (GRCm39)	E263G	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Top3a	T	G	11: 60,654,253 (GRCm39)		probably null	Het
Ube2q2l	T	A	6: 136,378,011 (GRCm39)	D273V	probably benign	Het
Vmn1r31	A	G	6: 58,449,073 (GRCm39)	V264A	unknown	Het
Vti1a	A	C	19: 55,316,865 (GRCm39)	M81L	probably benign	Het
Wscd1	T	C	11: 71,674,245 (GRCm39)		probably null	Het
Zfp595	T	C	13: 67,464,676 (GRCm39)	E532G	probably damaging	Het
Zranb1	T	A	7: 132,584,167 (GRCm39)	V539D	probably damaging	Het

Other mutations in Klhl28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00778:Klhl28	APN	12	64,996,840 (GRCm39)	missense	probably damaging	1.00
IGL03059:Klhl28	APN	12	64,998,340 (GRCm39)	missense	probably benign	0.00
IGL03246:Klhl28	APN	12	65,004,060 (GRCm39)	missense	probably benign
R0014:Klhl28	UTSW	12	65,004,076 (GRCm39)	missense	probably benign	0.06
R0607:Klhl28	UTSW	12	64,998,529 (GRCm39)	missense	probably damaging	1.00
R0975:Klhl28	UTSW	12	64,998,462 (GRCm39)	missense	possibly damaging	0.67
R1134:Klhl28	UTSW	12	64,998,391 (GRCm39)	missense	probably benign	0.01
R1480:Klhl28	UTSW	12	65,003,995 (GRCm39)	missense	probably damaging	1.00
R1675:Klhl28	UTSW	12	64,998,593 (GRCm39)	missense	probably damaging	1.00
R2064:Klhl28	UTSW	12	64,990,246 (GRCm39)	missense	probably benign	0.05
R3832:Klhl28	UTSW	12	64,998,195 (GRCm39)	missense	probably damaging	1.00
R3896:Klhl28	UTSW	12	65,004,333 (GRCm39)	missense	probably damaging	1.00
R4327:Klhl28	UTSW	12	64,996,952 (GRCm39)	missense	probably damaging	1.00
R4612:Klhl28	UTSW	12	65,004,034 (GRCm39)	missense	probably damaging	0.99
R4817:Klhl28	UTSW	12	65,004,043 (GRCm39)	missense	probably benign	0.00
R4872:Klhl28	UTSW	12	65,003,896 (GRCm39)	missense	possibly damaging	0.94
R5007:Klhl28	UTSW	12	65,004,001 (GRCm39)	missense	probably damaging	0.98
R5008:Klhl28	UTSW	12	65,004,001 (GRCm39)	missense	probably damaging	0.98
R5010:Klhl28	UTSW	12	65,004,001 (GRCm39)	missense	probably damaging	0.98
R5068:Klhl28	UTSW	12	65,004,486 (GRCm39)	missense	probably benign	0.10
R5070:Klhl28	UTSW	12	65,004,486 (GRCm39)	missense	probably benign	0.10
R6666:Klhl28	UTSW	12	64,990,301 (GRCm39)	missense	probably benign	0.11
R7812:Klhl28	UTSW	12	64,990,363 (GRCm39)	missense	possibly damaging	0.74
R7951:Klhl28	UTSW	12	65,003,875 (GRCm39)	missense	probably damaging	1.00
R8219:Klhl28	UTSW	12	64,998,431 (GRCm39)	missense	probably benign	0.45
R8411:Klhl28	UTSW	12	64,996,864 (GRCm39)	missense	probably damaging	1.00
R8526:Klhl28	UTSW	12	64,998,400 (GRCm39)	missense	probably damaging	0.96
R9769:Klhl28	UTSW	12	64,998,330 (GRCm39)	missense	probably benign	0.00
R9789:Klhl28	UTSW	12	64,996,871 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TACGTTACAAAGAAAGCAGTGC -3'
(R):5'- TAAGCCTATATTGCTGTATTGCCTG -3'

Sequencing Primer
(F):5'- AAGCAGTGCAGCTAGCTGTC -3'
(R):5'- CTCTGTGGGACATAGTCTAC -3'

Posted On

2021-12-30