Mutagenetix > Incidental Mutation

Incidental Mutation 'R1608:Krtap31-1'

176639

Institutional Source

Beutler Lab

Gene Symbol

Krtap31-1

Ensembl Gene

ENSMUSG00000070334

Gene Name

keratin associated protein 31-1

Synonyms

4733401H21Rik

MMRRC Submission

039645-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

R1608 (G1)

Quality Score

111

Status

Not validated

Chromosome

Chromosomal Location

99798746-99799716 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99798919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 41 (S41G)

Ref Sequence

ENSEMBL: ENSMUSP00000091467 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093935]

AlphaFold

Q9D644

Predicted Effect

probably benign
Transcript: ENSMUST00000093935
AA Change: S41G

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000091467
Gene: ENSMUSG00000070334
AA Change: S41G

Domain	Start	End	E-Value	Type
low complexity region	18	28	N/A	INTRINSIC
low complexity region	40	56	N/A	INTRINSIC
Pfam:Keratin_B2_2	64	107	1.9e-9	PFAM
Pfam:Keratin_B2_2	111	157	2.4e-6	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	A	G	9: 30,813,775 (GRCm39)	S797P	probably damaging	Het
Akap9	T	C	5: 4,011,783 (GRCm39)	Y829H	probably damaging	Het
Anp32a	A	G	9: 62,279,375 (GRCm39)	D74G	probably damaging	Het
B3gat1	T	C	9: 26,663,112 (GRCm39)	I13T	probably damaging	Het
Cbfa2t3	A	T	8: 123,374,448 (GRCm39)	V99D	probably damaging	Het
Celsr2	C	T	3: 108,309,799 (GRCm39)	C1600Y	probably damaging	Het
Ddx31	T	A	2: 28,749,078 (GRCm39)	N291K	probably damaging	Het
Dennd1a	T	G	2: 37,742,446 (GRCm39)	M3L	probably benign	Het
Dnah12	C	T	14: 26,488,147 (GRCm39)	P1017L	probably damaging	Het
Dnajc6	A	T	4: 101,456,364 (GRCm39)	D86V	probably damaging	Het
Evx2	T	G	2: 74,488,195 (GRCm39)	K208N	probably damaging	Het
F13a1	A	G	13: 37,052,785 (GRCm39)	V718A	probably damaging	Het
Fcho2	T	C	13: 98,862,706 (GRCm39)	D757G	probably benign	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Fryl	C	T	5: 73,232,094 (GRCm39)	W424*	probably null	Het
Gata3	G	T	2: 9,879,579 (GRCm39)	Y97*	probably null	Het
Gm15446	T	A	5: 110,090,323 (GRCm39)	C192S	probably damaging	Het
Hdac10	A	T	15: 89,009,521 (GRCm39)	D470E	probably benign	Het
Ier2	A	G	8: 85,389,055 (GRCm39)	L109P	probably benign	Het
Iftap	T	C	2: 101,440,916 (GRCm39)	E29G	probably damaging	Het
Kcnh2	T	C	5: 24,527,217 (GRCm39)	T559A	probably benign	Het
Khk	C	T	5: 31,087,938 (GRCm39)	A204V	probably damaging	Het
Kndc1	T	A	7: 139,507,321 (GRCm39)	M1169K	possibly damaging	Het
Nabp1	T	C	1: 51,512,162 (GRCm39)		probably null	Het
Nphp3	A	G	9: 103,913,039 (GRCm39)	D939G	probably benign	Het
Or5e1	A	T	7: 108,354,309 (GRCm39)	N82I	probably damaging	Het
Plcg2	T	C	8: 118,340,974 (GRCm39)	I1089T	possibly damaging	Het
Ptk2	A	T	15: 73,134,424 (GRCm39)	D558E	probably damaging	Het
Serpinb6d	A	G	13: 33,853,112 (GRCm39)	D168G	probably benign	Het
Shisa8	G	A	15: 82,092,756 (GRCm39)	P189L	probably damaging	Het
Shkbp1	A	G	7: 27,054,204 (GRCm39)	V89A	probably benign	Het
Slc40a1	C	T	1: 45,950,457 (GRCm39)	A332T	probably damaging	Het
Slc44a3	A	T	3: 121,291,496 (GRCm39)	Y373*	probably null	Het
Slf2	T	C	19: 44,937,440 (GRCm39)	V722A	probably benign	Het
Spanxn4	A	G	12: 62,734,624 (GRCm39)		noncoding transcript	Het
Stag3	T	A	5: 138,296,901 (GRCm39)		probably null	Het
Tanc1	T	C	2: 59,628,038 (GRCm39)	I612T	possibly damaging	Het
Thbs2	T	A	17: 14,906,043 (GRCm39)	M286L	probably benign	Het
Top1	T	A	2: 160,545,515 (GRCm39)	N294K	probably benign	Het
Tpr	T	G	1: 150,302,644 (GRCm39)	L1381V	probably damaging	Het
Trpm8	T	G	1: 88,254,154 (GRCm39)	S126A	probably benign	Het
Ttc41	A	G	10: 86,611,857 (GRCm39)	Y1075C	probably damaging	Het
Ubox5	C	T	2: 130,439,376 (GRCm39)	G418D	probably benign	Het
Vmn1r67	T	C	7: 10,180,907 (GRCm39)	V57A	possibly damaging	Het
Zbtb5	T	C	4: 44,993,500 (GRCm39)	H628R	probably damaging	Het
Zfp810	T	C	9: 22,190,216 (GRCm39)	I231V	probably benign	Het

Other mutations in Krtap31-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2284:Krtap31-1	UTSW	11	99,799,081 (GRCm39)	nonsense	probably null
R2343:Krtap31-1	UTSW	11	99,798,847 (GRCm39)	missense	possibly damaging	0.86
R4072:Krtap31-1	UTSW	11	99,799,058 (GRCm39)	missense	possibly damaging	0.52
R4074:Krtap31-1	UTSW	11	99,799,058 (GRCm39)	missense	possibly damaging	0.52
R4076:Krtap31-1	UTSW	11	99,799,058 (GRCm39)	missense	possibly damaging	0.52
R4086:Krtap31-1	UTSW	11	99,799,145 (GRCm39)	missense	possibly damaging	0.93
R4884:Krtap31-1	UTSW	11	99,799,310 (GRCm39)	missense	unknown
R7644:Krtap31-1	UTSW	11	99,799,048 (GRCm39)	missense	possibly damaging	0.71
R7670:Krtap31-1	UTSW	11	99,799,258 (GRCm39)	missense	not run
R7897:Krtap31-1	UTSW	11	99,798,949 (GRCm39)	missense	possibly damaging	0.73
R7949:Krtap31-1	UTSW	11	99,799,144 (GRCm39)	missense	possibly damaging	0.71
R8158:Krtap31-1	UTSW	11	99,798,901 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- GCCCTGACTGGAAGAACTTGCTAC -3'
(R):5'- GCTGCAACCAATGATCACACAGGAG -3'

Sequencing Primer
(F):5'- GACTGGAAGAACTTGCTACATTGTG -3'
(R):5'- CACAGCAAGTTGGTTGGCAG -3'

Posted On

2014-04-24