Mutagenetix > Incidental Mutation

Incidental Mutation 'R5663:Rassf7'

444208

Institutional Source

Beutler Lab

Gene Symbol

Rassf7

Ensembl Gene

ENSMUSG00000038618

Gene Name

Ras association (RalGDS/AF-6) domain family (N-terminal) member 7

Synonyms

2400009B11Rik

MMRRC Submission

043306-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R5663 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140795773-140798571 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 140797003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 72 (T72I)

Ref Sequence

ENSEMBL: ENSMUSP00000147482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026573] [ENSMUST00000046890] [ENSMUST00000127613] [ENSMUST00000133763] [ENSMUST00000141804] [ENSMUST00000148975] [ENSMUST00000153081] [ENSMUST00000210993] [ENSMUST00000209500] [ENSMUST00000170841]

AlphaFold

Q9DD19

Predicted Effect

probably benign
Transcript: ENSMUST00000026573

SMART Domains

Protein: ENSMUSP00000026573
Gene: ENSMUSG00000025500

Domain	Start	End	E-Value	Type
coiled coil region	114	170	N/A	INTRINSIC
low complexity region	286	298	N/A	INTRINSIC
Pfam:LTD	375	482	1.3e-13	PFAM
low complexity region	567	578	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000046890
AA Change: T72I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038444
Gene: ENSMUSG00000038618
AA Change: T72I

Domain	Start	End	E-Value	Type
RA	6	89	1.67e-19	SMART
low complexity region	181	215	N/A	INTRINSIC
low complexity region	217	244	N/A	INTRINSIC
coiled coil region	259	300	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083617

Predicted Effect

probably benign
Transcript: ENSMUST00000127613

Predicted Effect

probably damaging
Transcript: ENSMUST00000133763
AA Change: T72I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118313
Gene: ENSMUSG00000038618
AA Change: T72I

Domain	Start	End	E-Value	Type
RA	6	89	1.67e-19	SMART
low complexity region	181	200	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000141804
AA Change: T72I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115948
Gene: ENSMUSG00000038618
AA Change: T72I

Domain	Start	End	E-Value	Type
RA	6	89	1.67e-19	SMART
low complexity region	181	215	N/A	INTRINSIC
low complexity region	217	243	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148975

SMART Domains

Protein: ENSMUSP00000118078
Gene: ENSMUSG00000038618

Domain	Start	End	E-Value	Type
Blast:RA	6	35	5e-13	BLAST
PDB:2CS4\|A	7	35	2e-11	PDB
low complexity region	36	47	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149548

Predicted Effect

probably damaging
Transcript: ENSMUST00000153081
AA Change: T72I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123128
Gene: ENSMUSG00000038618
AA Change: T72I

Domain	Start	End	E-Value	Type
RA	6	89	1.67e-19	SMART
low complexity region	181	199	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000210993
AA Change: T72I

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209500
AA Change: T72I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209760

Predicted Effect

probably benign
Transcript: ENSMUST00000170841

SMART Domains

Protein: ENSMUSP00000130905
Gene: ENSMUSG00000025500

Domain	Start	End	E-Value	Type
coiled coil region	124	180	N/A	INTRINSIC
low complexity region	296	308	N/A	INTRINSIC
SCOP:d1ifra_	385	487	1e-22	SMART
low complexity region	577	588	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	T	C	5: 50,156,627 (GRCm39)	N368D	probably benign	Het
Agfg1	T	A	1: 82,871,173 (GRCm39)	S444R	probably damaging	Het
Arhgap44	A	T	11: 64,915,117 (GRCm39)	F384I	probably damaging	Het
Atp8b2	T	C	3: 89,849,101 (GRCm39)	N1078D	probably benign	Het
Bcan	G	A	3: 87,902,920 (GRCm39)	T286I	probably damaging	Het
Cacna1d	A	G	14: 29,845,297 (GRCm39)	L624P	probably damaging	Het
Ccn5	G	A	2: 163,667,173 (GRCm39)	R58Q	probably damaging	Het
Cimip1	C	T	2: 173,369,690 (GRCm39)	P68L	probably damaging	Het
Dnah7c	C	A	1: 46,574,308 (GRCm39)	F994L	probably damaging	Het
Dpp6	A	G	5: 27,254,620 (GRCm39)	I12V	possibly damaging	Het
Edil3	A	G	13: 89,190,627 (GRCm39)	I101M	probably damaging	Het
Elapor1	T	C	3: 108,399,399 (GRCm39)	T64A	probably benign	Het
Farp2	T	C	1: 93,497,735 (GRCm39)	V255A	probably damaging	Het
Fhip1a	T	C	3: 85,579,740 (GRCm39)	T822A	probably benign	Het
Fzr1	A	G	10: 81,206,360 (GRCm39)	S137P	probably benign	Het
H2-Eb2	T	C	17: 34,552,382 (GRCm39)	F76L	possibly damaging	Het
Helb	A	G	10: 119,941,698 (GRCm39)	I330T	possibly damaging	Het
Il18rap	T	A	1: 40,570,717 (GRCm39)	C220S	probably damaging	Het
Kdm4c	T	C	4: 74,317,585 (GRCm39)	V966A	probably damaging	Het
Kdm5b	T	C	1: 134,558,373 (GRCm39)	V1460A	probably benign	Het
Kif15	T	A	9: 122,820,916 (GRCm39)		probably null	Het
Liat1	A	G	11: 75,891,047 (GRCm39)	K54E	probably damaging	Het
Lrrc37	A	G	11: 103,503,949 (GRCm39)	V497A	probably benign	Het
Masp1	T	C	16: 23,271,688 (GRCm39)	E621G	possibly damaging	Het
Mier1	T	A	4: 103,007,739 (GRCm39)	S285T	probably damaging	Het
Mroh6	A	G	15: 75,760,437 (GRCm39)	S46P	probably benign	Het
Myo1h	A	T	5: 114,472,155 (GRCm39)	Q395L	probably damaging	Het
Ndufb5	T	C	3: 32,801,898 (GRCm39)	I86T	possibly damaging	Het
Nelfb	T	A	2: 25,093,501 (GRCm39)	E417V	probably benign	Het
Nfkb1	T	G	3: 135,309,612 (GRCm39)	D494A	possibly damaging	Het
Nid1	G	A	13: 13,647,419 (GRCm39)	C395Y	probably damaging	Het
Nr4a3	G	T	4: 48,055,931 (GRCm39)	R319I	probably damaging	Het
Or2ag13	T	A	7: 106,472,877 (GRCm39)	T192S	probably benign	Het
Or4e1	A	T	14: 52,701,052 (GRCm39)	I138K	probably benign	Het
Or6f2	G	A	7: 139,756,234 (GRCm39)	C67Y	probably damaging	Het
Paqr5	A	G	9: 61,876,144 (GRCm39)	V130A	probably benign	Het
Phlpp2	G	A	8: 110,630,976 (GRCm39)	V207I	probably benign	Het
Pik3ca	C	T	3: 32,516,928 (GRCm39)	T1052M	probably damaging	Het
Pikfyve	T	C	1: 65,255,187 (GRCm39)	Y347H	probably benign	Het
Ptprz1	A	G	6: 23,035,142 (GRCm39)	H1964R	probably damaging	Het
Rfx3	A	G	19: 27,771,017 (GRCm39)	F603S	probably damaging	Het
Slc27a4	T	A	2: 29,702,382 (GRCm39)	V477D	probably damaging	Het
Slc9a3	A	C	13: 74,311,831 (GRCm39)	D593A	probably damaging	Het
Smyd1	A	G	6: 71,216,705 (GRCm39)	I14T	probably benign	Het
Sox6	T	A	7: 115,149,289 (GRCm39)	I404L	probably benign	Het
Tas2r121	G	A	6: 132,677,520 (GRCm39)	H151Y	probably benign	Het
Tgfb1	C	T	7: 25,393,706 (GRCm39)	T192M	possibly damaging	Het
Ubr4	T	C	4: 139,155,894 (GRCm39)	Y2240H	possibly damaging	Het
Whrn	T	A	4: 63,336,685 (GRCm39)	N626Y	probably damaging	Het
Xrra1	T	A	7: 99,535,250 (GRCm39)	I185N	probably damaging	Het
Zfp94	G	A	7: 24,002,252 (GRCm39)	R397W	probably damaging	Het

Other mutations in Rassf7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02098:Rassf7	APN	7	140,798,203 (GRCm39)	missense	possibly damaging	0.95
R0883:Rassf7	UTSW	7	140,796,903 (GRCm39)	splice site	probably benign
R1275:Rassf7	UTSW	7	140,797,060 (GRCm39)	missense	probably damaging	1.00
R1616:Rassf7	UTSW	7	140,796,645 (GRCm39)	missense	probably damaging	1.00
R5546:Rassf7	UTSW	7	140,796,973 (GRCm39)	splice site	probably null
R5597:Rassf7	UTSW	7	140,797,024 (GRCm39)	missense	probably damaging	1.00
R6250:Rassf7	UTSW	7	140,797,156 (GRCm39)	missense	probably damaging	0.98
R6806:Rassf7	UTSW	7	140,796,722 (GRCm39)	missense	probably damaging	1.00
R6817:Rassf7	UTSW	7	140,797,360 (GRCm39)	missense	probably damaging	1.00
R6962:Rassf7	UTSW	7	140,797,503 (GRCm39)	missense	possibly damaging	0.86
R7054:Rassf7	UTSW	7	140,797,556 (GRCm39)	missense	probably benign	0.01
R7562:Rassf7	UTSW	7	140,797,101 (GRCm39)	nonsense	probably null
R7682:Rassf7	UTSW	7	140,797,847 (GRCm39)	missense	probably damaging	1.00
R9308:Rassf7	UTSW	7	140,798,063 (GRCm39)	missense	probably benign
R9508:Rassf7	UTSW	7	140,796,924 (GRCm39)	nonsense	probably null
X0026:Rassf7	UTSW	7	140,798,045 (GRCm39)	nonsense	probably null
Z1088:Rassf7	UTSW	7	140,797,058 (GRCm39)	missense	probably damaging	1.00
Z1177:Rassf7	UTSW	7	140,798,198 (GRCm39)	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- GCATCTTCCCTTCCATGGAG -3'
(R):5'- CTGCAGGCTCAGGAATAGATG -3'

Sequencing Primer
(F):5'- CTTCCCTTCCATGGAGGGTGG -3'
(R):5'- ACCAGCTTGGGACATCTAAGGTTG -3'

Posted On

2016-11-09