Mutagenetix > Incidental Mutation

Incidental Mutation 'R6086:Klf10'

482509

Institutional Source

Beutler Lab

Gene Symbol

Klf10

Ensembl Gene

ENSMUSG00000037465

Gene Name

Kruppel-like transcription factor 10

Synonyms

Tieg1, Gdnfif, Egral, mGIF

MMRRC Submission

044427-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.663) question?

Stock #

R6086 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38291707-38300950 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 38297181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 271 (S271R)

Ref Sequence

ENSEMBL: ENSMUSP00000154702 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074043] [ENSMUST00000226363] [ENSMUST00000227920] [ENSMUST00000228416] [ENSMUST00000228732] [ENSMUST00000228772]

AlphaFold

O89091

Predicted Effect

probably benign
Transcript: ENSMUST00000074043
AA Change: S286R

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000073690
Gene: ENSMUSG00000037465
AA Change: S286R

Domain	Start	End	E-Value	Type
low complexity region	134	149	N/A	INTRINSIC
low complexity region	285	298	N/A	INTRINSIC
low complexity region	316	336	N/A	INTRINSIC
ZnF_C2H2	368	392	1.56e-2	SMART
ZnF_C2H2	398	422	5.99e-4	SMART
ZnF_C2H2	428	450	3.63e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000226363
AA Change: S271R

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000227920
AA Change: S286R

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000228416

Predicted Effect

probably benign
Transcript: ENSMUST00000228732

Predicted Effect

probably benign
Transcript: ENSMUST00000228772

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

96% (65/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins that feature C2H2-type zinc finger domains. The encoded protein is a transcriptional repressor that acts as an effector of transforming growth factor beta signaling. Activity of this protein may inhibit the growth of cancers, particularly pancreatic cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygous mutants display increased osteoblast formation and impaired osteoblast function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apob	G	T	12: 8,065,164 (GRCm39)	K4044N	probably benign	Het
Asic4	G	A	1: 75,449,887 (GRCm39)	V468I	possibly damaging	Het
Atf4	T	A	15: 80,141,654 (GRCm39)	V348D	probably benign	Het
Bcl9	A	G	3: 97,112,840 (GRCm39)	V1205A	possibly damaging	Het
Bora	A	T	14: 99,299,730 (GRCm39)	Q234L	possibly damaging	Het
Cap2	C	A	13: 46,789,188 (GRCm39)	P131Q	probably damaging	Het
Cdyl2	A	G	8: 117,316,035 (GRCm39)	S318P	probably damaging	Het
Ces1a	T	G	8: 93,753,981 (GRCm39)	N341H	probably benign	Het
Cimap2	T	C	4: 106,470,403 (GRCm39)	E218G	probably damaging	Het
Crlf3	C	T	11: 79,939,436 (GRCm39)	V352M	possibly damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyren	A	G	6: 34,851,555 (GRCm39)	S127P	probably damaging	Het
Dnah2	T	C	11: 69,406,834 (GRCm39)	T529A	probably benign	Het
Dnah9	C	T	11: 65,880,741 (GRCm39)	D2619N	probably damaging	Het
Dnah9	A	C	11: 65,976,000 (GRCm39)	S1350A	probably benign	Het
Dnajc6	C	T	4: 101,455,004 (GRCm39)	S65L	probably benign	Het
Dnm3	C	A	1: 162,148,602 (GRCm39)	R256S	probably damaging	Het
Enpp2	T	C	15: 54,709,230 (GRCm39)	D795G	probably damaging	Het
Fah	A	T	7: 84,238,120 (GRCm39)	W367R	probably damaging	Het
Fam220a	T	A	5: 143,548,796 (GRCm39)	H69Q	probably benign	Het
Fgd3	T	A	13: 49,440,772 (GRCm39)	T220S	probably benign	Het
Furin	G	T	7: 80,045,179 (GRCm39)	H248Q	probably damaging	Het
Gabrg1	A	T	5: 70,911,396 (GRCm39)	L410Q	probably damaging	Het
Gm10801	AAGT	AAGTAGT	2: 98,494,148 (GRCm39)		probably null	Het
Gm9742	T	C	13: 8,080,069 (GRCm39)		noncoding transcript	Het
Gpcpd1	A	G	2: 132,380,034 (GRCm39)	S252P	probably damaging	Het
Hnrnpdl	C	T	5: 100,184,340 (GRCm39)	G398S	probably null	Het
Hspa1l	T	C	17: 35,197,131 (GRCm39)	V390A	possibly damaging	Het
Htr3b	T	C	9: 48,858,598 (GRCm39)	S94G	probably benign	Het
Klk1b3	T	A	7: 43,851,158 (GRCm39)	L197Q	probably damaging	Het
Knl1	A	G	2: 118,924,549 (GRCm39)	R1861G	probably damaging	Het
Myo9a	C	T	9: 59,697,340 (GRCm39)	Q374*	probably null	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Ncapg	T	C	5: 45,850,578 (GRCm39)	L728P	probably damaging	Het
Nfxl1	A	C	5: 72,698,362 (GRCm39)	F228V	probably benign	Het
Ntaq1	C	A	15: 58,014,024 (GRCm39)	A71E	probably damaging	Het
Oc90	A	G	15: 65,761,560 (GRCm39)	S153P	probably damaging	Het
Or4c123	A	G	2: 89,127,198 (GRCm39)	C139R	probably damaging	Het
Or5b105	A	G	19: 13,079,745 (GRCm39)	*308Q	probably null	Het
Pbk	A	T	14: 66,052,702 (GRCm39)	K182*	probably null	Het
Piezo1	A	G	8: 123,228,396 (GRCm39)	F296S	possibly damaging	Het
Psmg1	T	A	16: 95,781,244 (GRCm39)	Y288F	probably damaging	Het
Rab11fip4	G	A	11: 79,574,306 (GRCm39)	D132N	probably damaging	Het
Recql4	T	C	15: 76,588,787 (GRCm39)	D1051G	probably damaging	Het
Reep5	A	C	18: 34,490,184 (GRCm39)	D104E	probably damaging	Het
Rnpepl1	T	C	1: 92,845,403 (GRCm39)	Y441H	probably damaging	Het
Scnm1	T	C	3: 95,037,596 (GRCm39)	I157V	probably benign	Het
Sema3b	T	C	9: 107,478,047 (GRCm39)	D446G	probably damaging	Het
Sema4d	C	T	13: 51,867,781 (GRCm39)	R190Q	probably damaging	Het
Slco3a1	G	A	7: 73,968,338 (GRCm39)	R461C	possibly damaging	Het
Spmap2l	T	A	5: 77,209,152 (GRCm39)	V458E	probably benign	Het
Tenm2	T	A	11: 35,899,473 (GRCm39)	I2562F	possibly damaging	Het
Tmem40	G	T	6: 115,710,628 (GRCm39)	N120K	possibly damaging	Het
Tmod3	T	C	9: 75,407,405 (GRCm39)	H351R	probably benign	Het
Tnn	C	T	1: 159,913,690 (GRCm39)	V1268M	probably damaging	Het
Tpmt	T	A	13: 47,188,506 (GRCm39)	D132V	probably damaging	Het
Trgc3	T	C	13: 19,447,454 (GRCm39)	S136P	probably damaging	Het
Trib1	G	A	15: 59,526,324 (GRCm39)	R298H	probably damaging	Het
Tsen2	A	G	6: 115,537,036 (GRCm39)	E264G	probably benign	Het
Urah	A	G	7: 140,416,711 (GRCm39)	I60M	probably benign	Het
Vmn2r26	T	A	6: 124,016,519 (GRCm39)	S328T	possibly damaging	Het
Vmn2r27	G	C	6: 124,168,958 (GRCm39)	T724R	probably damaging	Het
Washc2	A	G	6: 116,233,177 (GRCm39)		probably null	Het
Zfp955b	T	A	17: 33,521,478 (GRCm39)	W316R	probably benign	Het
Zranb2	T	C	3: 157,248,883 (GRCm39)		probably null	Het

Other mutations in Klf10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01934:Klf10	APN	15	38,297,528 (GRCm39)	missense	probably benign	0.35
IGL02168:Klf10	APN	15	38,297,085 (GRCm39)	missense	probably damaging	1.00
IGL02444:Klf10	APN	15	38,298,068 (GRCm39)	missense	probably damaging	1.00
R0360:Klf10	UTSW	15	38,297,090 (GRCm39)	missense	probably benign
R1544:Klf10	UTSW	15	38,297,030 (GRCm39)	missense	probably damaging	1.00
R1961:Klf10	UTSW	15	38,296,240 (GRCm39)	missense	probably damaging	0.99
R2301:Klf10	UTSW	15	38,297,326 (GRCm39)	missense	possibly damaging	0.83
R2517:Klf10	UTSW	15	38,297,357 (GRCm39)	missense	probably benign	0.26
R5217:Klf10	UTSW	15	38,296,331 (GRCm39)	missense	probably damaging	1.00
R5498:Klf10	UTSW	15	38,296,283 (GRCm39)	missense	probably damaging	1.00
R5994:Klf10	UTSW	15	38,296,285 (GRCm39)	missense	probably damaging	0.99
R7386:Klf10	UTSW	15	38,297,193 (GRCm39)	missense	possibly damaging	0.68
R7474:Klf10	UTSW	15	38,297,446 (GRCm39)	missense	probably benign	0.05
R7579:Klf10	UTSW	15	38,297,282 (GRCm39)	missense	probably benign	0.02
R7617:Klf10	UTSW	15	38,297,080 (GRCm39)	missense	probably damaging	0.97
R9269:Klf10	UTSW	15	38,298,002 (GRCm39)	missense	probably damaging	1.00
R9459:Klf10	UTSW	15	38,296,171 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CTCTGGACGAGTCAATCTGAG -3'
(R):5'- TTGCTGTGCCTTCCTCAGAG -3'

Posted On

2017-07-14