Mutagenetix > Incidental Mutation

Incidental Mutation 'R3968:Gm14401'

312432

Institutional Source

Beutler Lab

Gene Symbol

Gm14401

Ensembl Gene

ENSMUSG00000078872

Gene Name

predicted gene 14401

Synonyms

MMRRC Submission

040936-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R3968 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

176778122-176779598 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 176778789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 292 (Y292H)

Ref Sequence

ENSEMBL: ENSMUSP00000119549 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108968] [ENSMUST00000108970] [ENSMUST00000134614]

AlphaFold

A2ARV7

Predicted Effect

probably benign
Transcript: ENSMUST00000108968

SMART Domains

Protein: ENSMUSP00000104596
Gene: ENSMUSG00000078872

Domain	Start	End	E-Value	Type
KRAB	4	64	1.21e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000108969

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108970
AA Change: Y292H

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104598
Gene: ENSMUSG00000078872
AA Change: Y292H

Domain	Start	End	E-Value	Type
KRAB	4	66	9.34e-15	SMART
Pfam:zf-C2H2_4	69	98	4.5e-2	PFAM
ZnF_C2H2	103	125	2.09e-3	SMART
ZnF_C2H2	131	153	6.88e-4	SMART
ZnF_C2H2	159	181	5.9e-3	SMART
ZnF_C2H2	187	209	4.01e-5	SMART
ZnF_C2H2	215	237	2.91e-2	SMART
ZnF_C2H2	243	265	1.21e2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121260

Predicted Effect

possibly damaging
Transcript: ENSMUST00000134614
AA Change: Y292H

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000119549
Gene: ENSMUSG00000078872
AA Change: Y292H

Domain	Start	End	E-Value	Type
KRAB	4	66	9.34e-15	SMART
ZnF_C2H2	103	125	2.09e-3	SMART
ZnF_C2H2	131	153	6.88e-4	SMART
ZnF_C2H2	159	181	5.9e-3	SMART
ZnF_C2H2	187	209	4.01e-5	SMART
ZnF_C2H2	215	237	2.91e-2	SMART
ZnF_C2H2	243	265	1.21e2	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.1%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef12	C	A	9: 42,916,847 (GRCm39)	R432L	probably damaging	Het
Camk4	T	A	18: 33,312,634 (GRCm39)	I258N	possibly damaging	Het
Cdhr2	A	T	13: 54,874,271 (GRCm39)	N781I	probably damaging	Het
Cela1	C	T	15: 100,582,534 (GRCm39)	G93S	probably damaging	Het
Commd9	C	A	2: 101,727,486 (GRCm39)	N93K	probably benign	Het
Cysltr2	A	G	14: 73,267,614 (GRCm39)	I32T	probably damaging	Het
E2f1	C	G	2: 154,405,942 (GRCm39)	G144R	probably damaging	Het
Fcho2	A	T	13: 98,871,564 (GRCm39)	S551T	probably benign	Het
Fzd8	T	C	18: 9,214,070 (GRCm39)	V384A	probably damaging	Het
H2-M2	C	T	17: 37,792,197 (GRCm39)	G318S	possibly damaging	Het
Il21r	G	T	7: 125,227,215 (GRCm39)		probably null	Het
Itgam	T	C	7: 127,712,205 (GRCm39)	Y697H	probably damaging	Het
Itpkb	A	T	1: 180,155,363 (GRCm39)		probably benign	Het
Lama3	A	T	18: 12,713,398 (GRCm39)	K3230M	probably damaging	Het
Ly75	T	C	2: 60,158,217 (GRCm39)	I1023V	possibly damaging	Het
Narf	A	T	11: 121,129,247 (GRCm39)	E10D	possibly damaging	Het
Net1	A	G	13: 3,957,795 (GRCm39)		probably null	Het
Nlrx1	A	T	9: 44,166,722 (GRCm39)		probably benign	Het
Oard1	T	C	17: 48,722,282 (GRCm39)	Y93H	probably damaging	Het
Or4n5	A	T	14: 50,132,983 (GRCm39)	I92N	probably damaging	Het
Or8b54	A	G	9: 38,686,664 (GRCm39)	T38A	probably benign	Het
Pcm1	T	C	8: 41,778,867 (GRCm39)	L1825P	probably damaging	Het
Pecr	G	A	1: 72,315,468 (GRCm39)	T94I	probably damaging	Het
Piezo2	A	T	18: 63,144,767 (GRCm39)	V2776E	probably damaging	Het
Pik3r2	G	A	8: 71,223,065 (GRCm39)	R452C	probably benign	Het
Ppfia2	T	A	10: 106,742,382 (GRCm39)	D1058E	probably damaging	Het
Ppl	T	C	16: 4,918,196 (GRCm39)		probably null	Het
Rab39	G	A	9: 53,597,932 (GRCm39)	A111V	possibly damaging	Het
Sema3g	T	C	14: 30,948,478 (GRCm39)		probably null	Het
Slc19a1	T	C	10: 76,877,680 (GRCm39)	Y72H	probably damaging	Het
Sntb2	T	A	8: 107,723,772 (GRCm39)	Y340*	probably null	Het
Srrm4	A	G	5: 116,582,803 (GRCm39)		probably benign	Het
Ssb	C	T	2: 69,697,793 (GRCm39)		probably benign	Het
Sval2	T	A	6: 41,838,861 (GRCm39)	V14E	probably damaging	Het
Tmc2	T	G	2: 130,043,991 (GRCm39)	V75G	probably benign	Het
Tnnc2	T	C	2: 164,619,457 (GRCm39)	E129G	possibly damaging	Het
Vmn2r94	C	A	17: 18,478,647 (GRCm39)	Q33H	possibly damaging	Het
Yap1	C	T	9: 7,973,877 (GRCm39)	R188Q	probably damaging	Het

Other mutations in Gm14401

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Gm14401	APN	2	176,778,625 (GRCm39)	missense	probably damaging	1.00
FR4548:Gm14401	UTSW	2	176,778,661 (GRCm39)	missense	probably benign
R1289:Gm14401	UTSW	2	176,778,789 (GRCm39)	missense	possibly damaging	0.76
R3967:Gm14401	UTSW	2	176,778,789 (GRCm39)	missense	possibly damaging	0.76
R3970:Gm14401	UTSW	2	176,778,789 (GRCm39)	missense	possibly damaging	0.76
R4476:Gm14401	UTSW	2	176,778,570 (GRCm39)	nonsense	probably null
R4627:Gm14401	UTSW	2	176,778,109 (GRCm39)	missense	probably benign
R4897:Gm14401	UTSW	2	176,778,573 (GRCm39)	missense	probably damaging	1.00
R5245:Gm14401	UTSW	2	176,778,471 (GRCm39)	missense	probably damaging	0.99
R5660:Gm14401	UTSW	2	176,778,224 (GRCm39)	missense	probably damaging	0.96
R5834:Gm14401	UTSW	2	176,778,696 (GRCm39)	missense	probably benign	0.25
R8025:Gm14401	UTSW	2	176,778,249 (GRCm39)	missense	probably damaging	1.00
R9499:Gm14401	UTSW	2	176,778,337 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- GCATATGAGAGTTGTAGTCAAAGG -3'
(R):5'- CTCTCAACTATATGTGCTTTTATGTGT -3'

Sequencing Primer
(F):5'- CCAATGTGGAAAAGCCTTTGC -3'
(R):5'- ATGTGTGTAAAGACTATTGGTTTTCG -3'

Posted On

2015-04-29