Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02313:Klhdc10'

287917

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klhdc10

Ensembl Gene

ENSMUSG00000029775

Gene Name

kelch domain containing 10

Synonyms

2410127E18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

IGL02313

Quality Score

Status

Chromosome

Chromosomal Location

30401867-30455178 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 30439865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145063 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068240] [ENSMUST00000068259] [ENSMUST00000123494] [ENSMUST00000132581] [ENSMUST00000135566] [ENSMUST00000144272]

AlphaFold

Q6PAR0

Predicted Effect

probably null
Transcript: ENSMUST00000068240

SMART Domains

Protein: ENSMUSP00000064594
Gene: ENSMUSG00000029775

Domain	Start	End	E-Value	Type
low complexity region	11	35	N/A	INTRINSIC
Pfam:Kelch_5	56	107	3.6e-7	PFAM
Pfam:Kelch_1	59	114	5.6e-8	PFAM
Pfam:Kelch_4	59	120	1.8e-7	PFAM
Pfam:Kelch_6	59	120	2.1e-8	PFAM
Pfam:Kelch_4	173	222	9.8e-9	PFAM
Pfam:Kelch_6	173	225	3.9e-9	PFAM
Pfam:Kelch_2	174	218	1.2e-7	PFAM
Pfam:Kelch_1	174	219	9.4e-8	PFAM
Kelch	239	294	4.93e0	SMART
Kelch	295	342	9.96e-4	SMART
low complexity region	373	384	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000068259

SMART Domains

Protein: ENSMUSP00000069669
Gene: ENSMUSG00000029775

Domain	Start	End	E-Value	Type
low complexity region	11	35	N/A	INTRINSIC
Pfam:Kelch_5	85	135	1.2e-7	PFAM
Pfam:Kelch_1	88	143	2.6e-8	PFAM
Pfam:Kelch_4	88	149	1.5e-6	PFAM
Pfam:Kelch_6	88	150	3.1e-8	PFAM
Pfam:Kelch_6	202	255	4.6e-9	PFAM
Pfam:Kelch_2	203	247	1.4e-7	PFAM
Pfam:Kelch_1	203	248	2.6e-6	PFAM
Kelch	268	323	4.93e0	SMART
Kelch	324	371	9.96e-4	SMART
low complexity region	402	413	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000123494

SMART Domains

Protein: ENSMUSP00000145442
Gene: ENSMUSG00000029775

Domain	Start	End	E-Value	Type
Pfam:Kelch_4	62	110	1.2e-4	PFAM
Pfam:Kelch_6	62	115	5.2e-8	PFAM
Pfam:Kelch_2	63	107	1.6e-6	PFAM
Pfam:Kelch_1	63	108	3.1e-5	PFAM
Pfam:Kelch_1	116	157	2.1e-6	PFAM
Pfam:Kelch_6	116	157	8.8e-6	PFAM
Pfam:Kelch_4	122	157	3.7e-4	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000132581

SMART Domains

Protein: ENSMUSP00000143839
Gene: ENSMUSG00000029775

Domain	Start	End	E-Value	Type
low complexity region	3	35	N/A	INTRINSIC
Pfam:Kelch_2	121	165	1.1e-6	PFAM
Pfam:Kelch_6	121	173	2.4e-8	PFAM
Pfam:Kelch_1	123	166	2.1e-5	PFAM
Pfam:Kelch_4	123	168	9.8e-5	PFAM
Kelch	186	241	1.7e-2	SMART
Kelch	242	289	3.3e-6	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000135566

SMART Domains

Protein: ENSMUSP00000144878
Gene: ENSMUSG00000029775

Domain	Start	End	E-Value	Type
Blast:Kelch	1	21	4e-6	BLAST
SCOP:d1k3ia3	7	51	1e-5	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000144272

SMART Domains

Protein: ENSMUSP00000145063
Gene: ENSMUSG00000029775

Domain	Start	End	E-Value	Type
Pfam:Kelch_4	62	110	3.5e-4	PFAM
Pfam:Kelch_6	62	115	1.6e-7	PFAM
Pfam:Kelch_2	63	107	4.8e-6	PFAM
Pfam:Kelch_1	63	108	9.1e-5	PFAM
Kelch	128	183	1.7e-2	SMART
Kelch	184	231	3.3e-6	SMART
low complexity region	262	273	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150854

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd13c	T	A	3: 157,653,571 (GRCm39)	N136K	probably damaging	Het
Aph1b	A	T	9: 66,697,955 (GRCm39)		probably benign	Het
Atf7ip	A	G	6: 136,583,718 (GRCm39)	K1250E	probably damaging	Het
Atp8b2	T	C	3: 89,857,160 (GRCm39)	N400S	probably damaging	Het
Brca2	C	A	5: 150,462,126 (GRCm39)	S630Y	probably damaging	Het
Chd6	T	A	2: 160,807,595 (GRCm39)	E1873V	probably damaging	Het
Chrna10	T	C	7: 101,761,236 (GRCm39)		probably benign	Het
Col6a3	A	G	1: 90,739,328 (GRCm39)	L907P	probably damaging	Het
Cxcr6	A	G	9: 123,639,770 (GRCm39)	N264S	probably damaging	Het
Cyria	A	G	12: 12,414,752 (GRCm39)	T248A	possibly damaging	Het
Dgkg	A	G	16: 22,388,980 (GRCm39)		probably benign	Het
Dpysl2	T	G	14: 67,061,839 (GRCm39)	M256L	probably benign	Het
Dsp	G	T	13: 38,380,499 (GRCm39)	E1816*	probably null	Het
Fam13b	T	C	18: 34,587,709 (GRCm39)	K530E	probably damaging	Het
Fastk	T	C	5: 24,648,090 (GRCm39)	H242R	probably damaging	Het
Fbxw28	A	T	9: 109,166,420 (GRCm39)	H145Q	possibly damaging	Het
Heatr6	T	C	11: 83,669,718 (GRCm39)	L910P	probably damaging	Het
Hmcn2	A	G	2: 31,343,617 (GRCm39)	T4642A	possibly damaging	Het
Hspg2	A	G	4: 137,235,700 (GRCm39)	T167A	probably benign	Het
Igsf10	A	G	3: 59,238,111 (GRCm39)	L690P	probably benign	Het
Krt31	A	G	11: 99,939,222 (GRCm39)	Y232H	probably damaging	Het
Lsm3	A	G	6: 91,493,070 (GRCm39)		probably benign	Het
Mfn2	T	A	4: 147,969,947 (GRCm39)	I375F	probably damaging	Het
Mfrp	A	T	9: 44,014,171 (GRCm39)	I180F	probably damaging	Het
Msh3	T	C	13: 92,485,820 (GRCm39)	E168G	possibly damaging	Het
Naa16	A	T	14: 79,622,108 (GRCm39)	V77D	probably damaging	Het
Nav2	T	C	7: 49,208,521 (GRCm39)	S1570P	probably damaging	Het
Niban3	A	G	8: 72,055,504 (GRCm39)	R305G	possibly damaging	Het
Numa1	C	T	7: 101,649,439 (GRCm39)	R1057*	probably null	Het
Nup210l	G	A	3: 90,030,099 (GRCm39)	A271T	probably damaging	Het
Ogdh	T	C	11: 6,305,400 (GRCm39)	V965A	probably damaging	Het
Or10h28	C	A	17: 33,488,639 (GRCm39)	Q314K	probably benign	Het
Or4m1	A	T	14: 50,557,473 (GRCm39)	V273E	probably damaging	Het
Or6c219	A	G	10: 129,781,772 (GRCm39)	L53P	probably damaging	Het
Or7g21	A	T	9: 19,032,671 (GRCm39)	N140I	probably damaging	Het
Or8b51	T	A	9: 38,569,362 (GRCm39)	I109F	probably damaging	Het
Pdp2	A	T	8: 105,321,531 (GRCm39)	Q460L	probably benign	Het
Pex5l	T	C	3: 33,047,141 (GRCm39)	T270A	probably benign	Het
Pkp4	C	T	2: 59,140,598 (GRCm39)	Q435*	probably null	Het
Prss32	G	A	17: 24,075,096 (GRCm39)	V149M	probably benign	Het
Riox2	C	A	16: 59,309,780 (GRCm39)	P378Q	probably benign	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Rsph4a	T	A	10: 33,781,521 (GRCm39)	S124T	possibly damaging	Het
Sdccag8	G	A	1: 176,652,321 (GRCm39)	R24H	possibly damaging	Het
Slc22a1	C	A	17: 12,894,387 (GRCm39)	G54*	probably null	Het
Slc24a5	C	T	2: 124,927,567 (GRCm39)		probably benign	Het
Tex101	C	T	7: 24,367,750 (GRCm39)	V201M	probably damaging	Het
Tmprss7	T	C	16: 45,501,956 (GRCm39)	Y223C	probably damaging	Het
Trpc4ap	T	C	2: 155,492,388 (GRCm39)	E382G	probably damaging	Het
Uggt1	A	T	1: 36,223,565 (GRCm39)	Y575N	probably damaging	Het
Vmn2r70	T	C	7: 85,214,376 (GRCm39)	I259V	probably damaging	Het
Xpo1	T	A	11: 23,227,065 (GRCm39)	N131K	probably damaging	Het
Zfp579	C	T	7: 4,997,432 (GRCm39)	V160M	probably benign	Het
Zfp697	A	G	3: 98,332,766 (GRCm39)	D64G	probably benign	Het
Zfp974	T	C	7: 27,611,678 (GRCm39)	T16A	possibly damaging	Het

Other mutations in Klhdc10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01743:Klhdc10	APN	6	30,441,933 (GRCm39)	splice site	probably null
IGL03353:Klhdc10	APN	6	30,447,991 (GRCm39)	splice site	probably benign
PIT4378001:Klhdc10	UTSW	6	30,447,411 (GRCm39)	missense	probably damaging	0.98
R0379:Klhdc10	UTSW	6	30,450,669 (GRCm39)	missense	possibly damaging	0.89
R0390:Klhdc10	UTSW	6	30,447,411 (GRCm39)	missense	probably damaging	0.98
R1199:Klhdc10	UTSW	6	30,449,493 (GRCm39)	missense	probably damaging	1.00
R1628:Klhdc10	UTSW	6	30,444,461 (GRCm39)	missense	probably damaging	0.98
R2243:Klhdc10	UTSW	6	30,449,558 (GRCm39)	missense	probably damaging	1.00
R2861:Klhdc10	UTSW	6	30,402,139 (GRCm39)	missense	unknown
R5007:Klhdc10	UTSW	6	30,450,640 (GRCm39)	missense	probably benign	0.05
R5574:Klhdc10	UTSW	6	30,439,864 (GRCm39)	missense	possibly damaging	0.92
R6428:Klhdc10	UTSW	6	30,439,855 (GRCm39)	missense	probably damaging	1.00
R6724:Klhdc10	UTSW	6	30,446,640 (GRCm39)	missense	probably damaging	0.99
R6842:Klhdc10	UTSW	6	30,439,781 (GRCm39)	missense	probably damaging	1.00
R6879:Klhdc10	UTSW	6	30,449,589 (GRCm39)	missense	probably damaging	1.00
R7014:Klhdc10	UTSW	6	30,450,502 (GRCm39)	missense	probably damaging	1.00
R7124:Klhdc10	UTSW	6	30,441,826 (GRCm39)	missense	probably damaging	1.00
R7453:Klhdc10	UTSW	6	30,447,989 (GRCm39)	critical splice donor site	probably null
R7988:Klhdc10	UTSW	6	30,446,690 (GRCm39)	missense	probably benign
R9192:Klhdc10	UTSW	6	30,449,499 (GRCm39)	missense	probably damaging	0.99
R9747:Klhdc10	UTSW	6	30,439,859 (GRCm39)	missense	possibly damaging	0.90

Posted On

2015-04-16