Mutagenetix > Incidental Mutations

Incidental Mutation 'R7014:Klhdc10'

545178

Institutional Source

Beutler Lab

Gene Symbol

Klhdc10

Ensembl Gene

ENSMUSG00000029775

Gene Name

kelch domain containing 10

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.308) question?

Stock #

R7014 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30401868-30455179 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30450503 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 294 (I294N)

Ref Sequence

ENSEMBL: ENSMUSP00000143839 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000068240
AA Change: I347N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000064594
Gene: ENSMUSG00000029775
AA Change: I347N

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 damaging
Transcript: ENSMUST00000068259
AA Change: I376N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000069669
Gene: ENSMUSG00000029775
AA Change: I376N

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 benign
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 damaging
Transcript: ENSMUST00000132581
AA Change: I294N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000143839
Gene: ENSMUSG00000029775
AA Change: I294N

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 damaging
Transcript: ENSMUST00000144272
AA Change: I236N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000145063
Gene: ENSMUSG00000029775
AA Change: I236N

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

Coding Region Coverage

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

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	T	7: 27,578,773	Q156*	probably null	Het
2700097O09Rik	A	G	12: 55,045,942	I264T	probably benign	Het
Arid3a	G	T	10: 79,950,884	M488I	possibly damaging	Het
Auts2	A	G	5: 131,466,123	F331S	probably damaging	Het
Axdnd1	T	C	1: 156,330,962		probably null	Het
Bpifb5	C	A	2: 154,224,956	S43*	probably null	Het
Carhsp1	A	G	16: 8,661,005	V128A	probably benign	Het
Ccdc141	A	G	2: 77,132,297	V101A	probably damaging	Het
Cdk6	C	G	5: 3,473,152	L191V	probably damaging	Het
Cgnl1	T	G	9: 71,725,134	K312Q	possibly damaging	Het
Col6a1	T	C	10: 76,721,443	E225G	probably damaging	Het
Copg1	T	A	6: 87,902,340	L456Q	probably damaging	Het
Ctif	T	A	18: 75,437,208	D540V	possibly damaging	Het
Cyfip1	T	C	7: 55,919,493	I917T	probably benign	Het
Cyth1	T	C	11: 118,212,651	D9G	probably benign	Het
Dnajb1	T	C	8: 83,610,255	I118T	probably damaging	Het
Ebna1bp2	T	A	4: 118,623,378	Y139*	probably null	Het
Fam162a	A	T	16: 36,049,932	V59E	probably damaging	Het
Fam213a	T	C	14: 41,002,494	E71G	probably benign	Het
Fhad1	CGG	CG	4: 141,918,291		probably null	Het
Fmo6	C	G	1: 162,926,308	R112T	probably benign	Het
Gm11639	A	G	11: 104,693,422	T100A	probably benign	Het
Gm17087	T	A	17: 8,566,472	D133V	probably benign	Het
Gm17689	C	A	9: 36,582,558	W26C	unknown	Het
Gm21994	A	T	2: 150,255,262	C82*	probably null	Het
Gm42669	A	G	5: 107,508,276	I802V	probably benign	Het
Gp2	T	C	7: 119,451,645	N288D	probably damaging	Het
Gstm7	C	T	3: 107,926,962	D196N	probably benign	Het
Hsph1	A	T	5: 149,630,400	V201D	probably damaging	Het
Il20ra	T	C	10: 19,712,710	L26P	unknown	Het
Itpr1	T	A	6: 108,431,498		probably null	Het
Kcns3	A	T	12: 11,091,687	I337N	probably damaging	Het
Kdm4d	A	G	9: 14,464,179	Y128H	probably damaging	Het
Kirrel2	A	G	7: 30,454,574	I200T	probably benign	Het
Map1a	A	C	2: 121,300,239	N512T	probably damaging	Het
March8	C	G	6: 116,403,543	C118W	probably damaging	Het
March8	T	G	6: 116,403,544	C119G	probably damaging	Het
Mrpl38	G	T	11: 116,134,915	P195Q	probably damaging	Het
Ms4a4d	A	T	19: 11,548,583	Q27L	probably benign	Het
Muc16	T	A	9: 18,658,236	T996S	unknown	Het
Mug1	C	T	6: 121,861,125	A438V	probably benign	Het
Mup7	T	A	4: 60,069,866	I33F	probably damaging	Het
Ndufa5	C	T	6: 24,519,191		probably null	Het
Olfr1133	A	T	2: 87,645,976	L49Q	probably damaging	Het
Olfr1141	T	C	2: 87,753,871	I41V	probably benign	Het
Olfr1535	A	G	13: 21,555,938	F28S	probably benign	Het
Olfr167	A	T	16: 19,515,456	F60Y	probably benign	Het
Olfr873	T	A	9: 20,300,663	C154*	probably null	Het
Parp9	T	A	16: 35,960,063		probably null	Het
Pbx1	T	A	1: 168,431,380	D42V	probably damaging	Het
Pde4dip	G	T	3: 97,715,422	N1490K	possibly damaging	Het
Pdzd2	T	C	15: 12,372,561	N2496S	probably benign	Het
Pdzd2	A	G	15: 12,372,975	M2358T	probably benign	Het
Pglyrp2	C	A	17: 32,415,930	C486F	probably damaging	Het
Pi4ka	A	G	16: 17,297,067		probably benign	Het
Pknox2	T	A	9: 36,909,667	T300S	probably damaging	Het
Plekhm3	A	G	1: 64,883,270	I582T	probably damaging	Het
Prtg	T	C	9: 72,891,985	Y766H	possibly damaging	Het
Rabgap1	A	G	2: 37,560,563	E901G	probably benign	Het
Rabgap1l	A	T	1: 160,342,072	N60K	probably damaging	Het
Rnf150	C	T	8: 83,042,663	T359I	probably benign	Het
Rps6ka2	C	T	17: 7,255,932	H236Y	probably benign	Het
Rrp1b	T	A	17: 32,049,427	L120Q	probably damaging	Het
Scn7a	C	A	2: 66,741,959	G223C	probably null	Het
Sema6a	T	A	18: 47,298,217	N138I	probably damaging	Het
Sept5	T	A	16: 18,624,909	I97F	probably damaging	Het
Shcbp1	T	A	8: 4,754,234	E225D	probably damaging	Het
Slc25a19	A	G	11: 115,620,966	C124R	probably damaging	Het
Slc37a2	C	T	9: 37,233,887	A428T	probably damaging	Het
Slc5a12	A	G	2: 110,644,364	I538V	probably benign	Het
Slco4c1	A	T	1: 96,823,781		probably null	Het
Smarcad1	T	C	6: 65,052,670	S81P	probably damaging	Het
Smyd1	T	C	6: 71,238,627	D116G	probably damaging	Het
Themis	T	C	10: 28,789,707	Y589H	probably benign	Het
Trim30d	T	C	7: 104,483,336	K248R	probably benign	Het
Tspan12	C	T	6: 21,772,919	M210I	probably benign	Het
Vmn2r11	T	C	5: 109,053,423	Y405C	probably damaging	Het
Wdfy3	A	G	5: 101,894,909		probably null	Het
Wiz	C	A	17: 32,361,866	A83S	probably damaging	Het
Zmym6	T	A	4: 127,123,544	Y947*	probably null	Het

Other mutations in Klhdc10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01743:Klhdc10	APN	6	30441934	splice site	probably null
IGL02313:Klhdc10	APN	6	30439866	critical splice donor site	probably null
IGL03353:Klhdc10	APN	6	30447992	splice site	probably benign
PIT4378001:Klhdc10	UTSW	6	30447412	missense	probably damaging	0.98
R0379:Klhdc10	UTSW	6	30450670	missense	possibly damaging	0.89
R0390:Klhdc10	UTSW	6	30447412	missense	probably damaging	0.98
R1199:Klhdc10	UTSW	6	30449494	missense	probably damaging	1.00
R1628:Klhdc10	UTSW	6	30444462	missense	probably damaging	0.98
R2243:Klhdc10	UTSW	6	30449559	missense	probably damaging	1.00
R2861:Klhdc10	UTSW	6	30402140	missense	unknown
R5007:Klhdc10	UTSW	6	30450641	missense	probably benign	0.05
R5574:Klhdc10	UTSW	6	30439865	missense	possibly damaging	0.92
R6428:Klhdc10	UTSW	6	30439856	missense	probably damaging	1.00
R6724:Klhdc10	UTSW	6	30446641	missense	probably damaging	0.99
R6842:Klhdc10	UTSW	6	30439782	missense	probably damaging	1.00
R6879:Klhdc10	UTSW	6	30449590	missense	probably damaging	1.00
R7124:Klhdc10	UTSW	6	30441827	missense	probably damaging	1.00
R7453:Klhdc10	UTSW	6	30447990	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATACGAACAGTCTTGGTTTCCAC -3'
(R):5'- TGTGTGAGTCCAAGGTGCAG -3'

Sequencing Primer
(F):5'- TCCACGTAGGTTTAGATCAGTGAGAC -3'
(R):5'- TCCAAGGTGCAGGAGCTGTG -3'

Posted On

2019-05-13