Mutagenetix > Incidental Mutation

Incidental Mutation 'R9263:Gm9639'

702382

Institutional Source

Beutler Lab

Gene Symbol

Gm9639

Ensembl Gene

ENSMUSG00000096131

Gene Name

predicted gene 9639

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Not available question?

Stock #

R9263 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77630233-77630910 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 77630828 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 28 (C28Y)

Ref Sequence

ENSEMBL: ENSMUSP00000151514 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092366] [ENSMUST00000172205] [ENSMUST00000178581]

AlphaFold

A0A1W2P739

Predicted Effect

probably benign
Transcript: ENSMUST00000092366

SMART Domains

Protein: ENSMUSP00000090020
Gene: ENSMUSG00000069581

Domain	Start	End	E-Value	Type
Blast:TSPN	1	71	8e-40	BLAST
SCOP:d1c4ra_	2	67	2e-7	SMART
low complexity region	190	200	N/A	INTRINSIC
Pfam:EPTP	208	255	2.6e-22	PFAM
Pfam:EPTP	260	307	1.4e-21	PFAM
Pfam:EPTP	312	359	8.9e-14	PFAM
Pfam:EPTP	362	417	6.2e-13	PFAM
Pfam:EPTP	422	469	1.3e-20	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000172205
AA Change: C28Y

SMART Domains

Protein: ENSMUSP00000128285
Gene: ENSMUSG00000096131
AA Change: C28Y

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	8	57	1.6e-9	PFAM
Pfam:Keratin_B2_2	48	100	5.2e-6	PFAM
Pfam:Keratin_B2_2	97	138	1.1e-7	PFAM
Pfam:Keratin_B2_2	133	178	2e-6	PFAM
Pfam:Keratin_B2_2	170	210	4.3e-4	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000172205
AA Change: C28Y

Predicted Effect

probably benign
Transcript: ENSMUST00000178581

SMART Domains

Protein: ENSMUSP00000136230
Gene: ENSMUSG00000096380

Domain	Start	End	E-Value	Type
Pfam:PMG	2	116	7.5e-11	PFAM
Pfam:Keratin_B2_2	135	179	8.2e-8	PFAM
Pfam:Keratin_B2_2	170	216	7.3e-4	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c14	T	C	13: 4,113,620 (GRCm39)	S51P	probably damaging	Het
Arhgef38	T	G	3: 132,866,529 (GRCm39)	K203Q		Het
Cacna1d	G	A	14: 29,796,925 (GRCm39)	R1517W	probably damaging	Het
Ccdc80	T	A	16: 44,915,949 (GRCm39)	M235K	probably damaging	Het
Cdc42bpg	T	C	19: 6,372,149 (GRCm39)	S1414P	probably damaging	Het
Dab2ip	A	G	2: 35,602,891 (GRCm39)	D395G	probably damaging	Het
Dmxl2	T	C	9: 54,358,945 (GRCm39)	E255G	probably benign	Het
Dnaja1	T	A	4: 40,724,133 (GRCm39)	M98K	probably benign	Het
Dnajb7	G	A	15: 81,292,266 (GRCm39)	R24C	probably benign	Het
Dscc1	C	A	15: 54,947,505 (GRCm39)	W225L	probably damaging	Het
Dsg2	T	A	18: 20,727,223 (GRCm39)	V590D	probably benign	Het
Epcam	A	G	17: 87,947,960 (GRCm39)		probably benign	Het
Fbn2	T	C	18: 58,257,344 (GRCm39)	Y341C	probably damaging	Het
Fry	T	G	5: 150,322,728 (GRCm39)	L1040R	probably damaging	Het
Hsd17b7	A	G	1: 169,794,833 (GRCm39)	S69P	probably damaging	Het
Igsf1	A	G	X: 48,884,191 (GRCm39)	M2T	possibly damaging	Het
Katnip	T	A	7: 125,469,867 (GRCm39)	D1445E	probably damaging	Het
Kmt2d	TGCTGCTGCTGCTGCTGCTGG	TG	15: 98,747,499 (GRCm39)		probably null	Het
Lrp5	T	C	19: 3,654,190 (GRCm39)	Y1079C	probably damaging	Het
Lrp6	T	C	6: 134,457,467 (GRCm39)	D779G	probably damaging	Het
Nbea	AC	A	3: 55,998,393 (GRCm39)		probably null	Het
Pacsin1	A	G	17: 27,923,924 (GRCm39)	D106G	probably damaging	Het
Pcm1	T	A	8: 41,732,790 (GRCm39)	D682E	probably benign	Het
Pex6	A	G	17: 47,023,231 (GRCm39)	D269G	probably benign	Het
Rcor1	T	A	12: 111,078,327 (GRCm39)	V474E		Het
Rdh16	A	G	10: 127,649,306 (GRCm39)	D254G	probably benign	Het
Rp1	A	T	1: 4,418,675 (GRCm39)	D812E	probably benign	Het
Rp1	A	G	1: 4,419,160 (GRCm39)	S651P	probably benign	Het
Sec16b	G	A	1: 157,359,748 (GRCm39)		probably benign	Het
Sephs2	C	T	7: 126,872,122 (GRCm39)	G324S	probably damaging	Het
Sirpb1a	T	C	3: 15,481,992 (GRCm39)	D112G	probably damaging	Het
Slc25a47	C	G	12: 108,820,215 (GRCm39)	T73S	probably benign	Het
Slco4c1	A	T	1: 96,799,509 (GRCm39)	L109H	probably damaging	Het
Smc2	A	G	4: 52,470,848 (GRCm39)	E845G	possibly damaging	Het
Sstr3	G	T	15: 78,423,792 (GRCm39)	N318K	probably damaging	Het
Suz12	A	G	11: 79,904,087 (GRCm39)		probably benign	Het
Sycp2	A	G	2: 178,035,931 (GRCm39)	I252T	probably damaging	Het
Syne3	T	C	12: 104,934,415 (GRCm39)	Y118C	probably damaging	Het
Tbx18	C	A	9: 87,611,521 (GRCm39)	A170S	probably damaging	Het
Trak2	T	C	1: 58,985,481 (GRCm39)	N6D	probably benign	Het
Ttn	G	A	2: 76,720,868 (GRCm39)	T6852I	unknown	Het
Tufm	A	G	7: 126,088,100 (GRCm39)	E201G	probably damaging	Het
Vwa3b	C	A	1: 37,099,493 (GRCm39)	P236Q	probably benign	Het
Xirp2	A	G	2: 67,345,289 (GRCm39)	Y2510C	possibly damaging	Het

Other mutations in Gm9639

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6999:Gm9639	UTSW	10	77,630,525 (GRCm39)	unclassified	probably benign
R7255:Gm9639	UTSW	10	77,630,372 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGCAGCAAAGGGTCACACAG -3'
(R):5'- AGAGGAACTTCCCACAATGC -3'

Sequencing Primer
(F):5'- GTCACACAGCAGGATGGC -3'
(R):5'- AGATGCATCTCCCTCTGGG -3'

Posted On

2022-03-25