Mutagenetix > Incidental Mutation

Incidental Mutation 'R3035:Kdf1'

264814

Institutional Source

Beutler Lab

Gene Symbol

Kdf1

Ensembl Gene

ENSMUSG00000037600

Gene Name

keratinocyte differentiation factor 1

Synonyms

1810019J16Rik

MMRRC Submission

040551-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3035 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

133246274-133258101 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133255373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 30 (N30S)

Ref Sequence

ENSEMBL: ENSMUSP00000119014 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030665] [ENSMUST00000042919] [ENSMUST00000105901] [ENSMUST00000121797] [ENSMUST00000149807] [ENSMUST00000153811]

AlphaFold

A2A9F4

Predicted Effect

probably benign
Transcript: ENSMUST00000030665

SMART Domains

Protein: ENSMUSP00000030665
Gene: ENSMUSG00000028851

Domain	Start	End	E-Value	Type
Pfam:Nudc_N	9	60	3.7e-16	PFAM
Pfam:NuDC	96	157	9.5e-23	PFAM
Pfam:CS	171	248	3.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000042919
AA Change: N30S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000048768
Gene: ENSMUSG00000037600
AA Change: N30S

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Pfam:DUF4656	34	397	5.4e-182	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105901
AA Change: N30S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101521
Gene: ENSMUSG00000037600
AA Change: N30S

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Pfam:DUF4656	29	397	4e-216	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121797
AA Change: N30S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113590
Gene: ENSMUSG00000037600
AA Change: N30S

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Pfam:DUF4656	29	375	1.4e-199	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149807
AA Change: N30S

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000119014
Gene: ENSMUSG00000037600
AA Change: N30S

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Pfam:DUF4656	29	265	3e-132	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153811
AA Change: N30S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000122170
Gene: ENSMUSG00000037600
AA Change: N30S

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Pfam:DUF4656	29	173	4.6e-74	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit neonatal lethality, short limbs, increased keratinocyte proliferation and impaired keratinocyte differentiation with epidermis overgrowth that covers ear and mouth openings and fuses the hindlimb, tail and genitals. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	A	2: 68,575,762 (GRCm39)	V687D	probably benign	Het
Ahctf1	T	A	1: 179,581,435 (GRCm39)	Q1589L	probably damaging	Het
Apba2	T	C	7: 64,389,540 (GRCm39)	S479P	probably benign	Het
C1galt1	A	G	6: 7,866,762 (GRCm39)	K203E	probably benign	Het
Dennd5a	A	G	7: 109,520,559 (GRCm39)	S433P	probably benign	Het
Dock9	A	G	14: 121,844,249 (GRCm39)	S1181P	possibly damaging	Het
Gsc2	A	G	16: 17,732,792 (GRCm39)	S26P	probably damaging	Het
Hcn4	T	C	9: 58,730,963 (GRCm39)	S57P	unknown	Het
Herc1	C	A	9: 66,391,217 (GRCm39)	Q4007K	possibly damaging	Het
Ighv1-54	C	A	12: 115,157,597 (GRCm39)	V17F	probably damaging	Het
Kctd12	T	A	14: 103,218,942 (GRCm39)	E312V	possibly damaging	Het
Kif11	T	A	19: 37,395,501 (GRCm39)	S587T	possibly damaging	Het
Mbl1	C	A	14: 40,880,790 (GRCm39)	S226Y	probably damaging	Het
Mgam	A	G	6: 40,640,464 (GRCm39)	I511V	probably benign	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rap1gap2	C	A	11: 74,298,148 (GRCm39)	A491S	possibly damaging	Het
Serpinb9b	T	A	13: 33,213,529 (GRCm39)	C29S	possibly damaging	Het
Slc12a5	C	A	2: 164,822,178 (GRCm39)	L343I	probably benign	Het
Topors	C	T	4: 40,269,673 (GRCm39)		probably null	Het

Other mutations in Kdf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Kdf1	APN	4	133,255,468 (GRCm39)	missense	probably damaging	1.00
R2860:Kdf1	UTSW	4	133,255,852 (GRCm39)	missense	probably damaging	1.00
R2861:Kdf1	UTSW	4	133,255,852 (GRCm39)	missense	probably damaging	1.00
R2862:Kdf1	UTSW	4	133,255,852 (GRCm39)	missense	probably damaging	1.00
R4851:Kdf1	UTSW	4	133,255,676 (GRCm39)	missense	probably damaging	1.00
R5267:Kdf1	UTSW	4	133,256,258 (GRCm39)	missense	probably damaging	1.00
R6980:Kdf1	UTSW	4	133,256,138 (GRCm39)	missense	probably damaging	1.00
R7162:Kdf1	UTSW	4	133,257,229 (GRCm39)	missense	unknown
R7779:Kdf1	UTSW	4	133,255,796 (GRCm39)	missense	probably damaging	1.00
R8554:Kdf1	UTSW	4	133,256,188 (GRCm39)	missense	probably damaging	0.97
R8881:Kdf1	UTSW	4	133,257,654 (GRCm39)	missense	possibly damaging	0.82
R8885:Kdf1	UTSW	4	133,255,505 (GRCm39)	missense	probably damaging	1.00
R9135:Kdf1	UTSW	4	133,256,140 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTAAGGCTTCTCAGGTCAGCC -3'
(R):5'- CTTCGGCAGACCCTTCAATG -3'

Sequencing Primer
(F):5'- TTCTCAGGTCAGCCCAGGAG -3'
(R):5'- TTCAATGGGGTCTCCGGCAG -3'

Posted On

2015-02-05