Mutagenetix > Incidental Mutation

Incidental Mutation 'R8371:CN725425'

646414

Institutional Source

Beutler Lab

Gene Symbol

CN725425

Ensembl Gene

ENSMUSG00000078932

Gene Name

cDNA sequence CN725425

Synonyms

Gm5807

MMRRC Submission

067740-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R8371 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91083697-91145097 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91124973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 171 (I171T)

Ref Sequence

ENSEMBL: ENSMUSP00000140772 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109284] [ENSMUST00000190436]

AlphaFold

A0A087WRU1

Predicted Effect

probably benign
Transcript: ENSMUST00000109284
AA Change: I164T

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104907
Gene: ENSMUSG00000078932
AA Change: I164T

Domain	Start	End	E-Value	Type
low complexity region	21	41	N/A	INTRINSIC
Pfam:DUF4552	219	643	2.7e-202	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190436
AA Change: I171T

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140772
Gene: ENSMUSG00000078932
AA Change: I171T

Domain	Start	End	E-Value	Type
low complexity region	28	48	N/A	INTRINSIC
Pfam:DUF4552	226	650	1.4e-184	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	T	11: 109,945,473 (GRCm39)	Q1050K	probably benign	Het
B4galt5	A	G	2: 167,151,145 (GRCm39)	M121T	probably damaging	Het
Birc2	A	G	9: 7,849,427 (GRCm39)	L549P	probably damaging	Het
Cacna1b	T	C	2: 24,610,036 (GRCm39)	N368S	possibly damaging	Het
Cbr1	A	G	16: 93,406,779 (GRCm39)	E165G	probably damaging	Het
Ccdc178	T	C	18: 21,944,561 (GRCm39)	D866G	possibly damaging	Het
Cd40	G	A	2: 164,908,458 (GRCm39)	G178E	probably damaging	Het
Cers1	T	A	8: 70,782,223 (GRCm39)	L349H	probably benign	Het
Chd8	T	C	14: 52,470,275 (GRCm39)	K445R	probably benign	Het
Clca3a2	G	T	3: 144,513,114 (GRCm39)	S477*	probably null	Het
Clec4a1	T	A	6: 122,910,882 (GRCm39)	*246R	probably null	Het
Crybg3	A	G	16: 59,377,414 (GRCm39)	M1280T	probably benign	Het
Csf1r	A	T	18: 61,250,663 (GRCm39)	Q458L	probably benign	Het
Cyp3a11	A	T	5: 145,805,438 (GRCm39)	V193E	possibly damaging	Het
Cys1	A	G	12: 24,718,694 (GRCm39)	I53T	probably benign	Het
Dhrs3	A	C	4: 144,645,953 (GRCm39)		probably null	Het
Dhx57	T	C	17: 80,582,919 (GRCm39)	R229G	probably benign	Het
Dhx9	T	C	1: 153,331,961 (GRCm39)	N1336D	unknown	Het
Dmgdh	T	A	13: 93,845,238 (GRCm39)	H410Q	probably benign	Het
Dmxl1	T	A	18: 50,031,781 (GRCm39)	M2225K	probably benign	Het
Eif4g3	T	G	4: 137,824,156 (GRCm39)	Y80D	probably damaging	Het
Ephx4	A	T	5: 107,561,384 (GRCm39)	I164F	possibly damaging	Het
Eppk1	C	T	15: 75,994,319 (GRCm39)	R854Q	probably benign	Het
Fhl4	G	A	10: 84,934,637 (GRCm39)	A48V	probably benign	Het
Fmn2	T	C	1: 174,437,173 (GRCm39)	L1048S	unknown	Het
Gemin5	T	C	11: 58,017,384 (GRCm39)	M1212V	probably benign	Het
Gm9195	C	T	14: 72,697,899 (GRCm39)	V1294I	probably benign	Het
Gpr55	A	T	1: 85,868,849 (GRCm39)	V244E	probably damaging	Het
Hgfac	T	A	5: 35,202,787 (GRCm39)	F429Y	probably damaging	Het
Jade2	T	A	11: 51,715,959 (GRCm39)	E415D	probably benign	Het
Kcnj4	T	A	15: 79,369,342 (GRCm39)	I213F	probably damaging	Het
Kcnq5	G	A	1: 21,549,648 (GRCm39)	R360C	probably damaging	Het
Klhl33	C	T	14: 51,129,689 (GRCm39)	R312Q	probably damaging	Het
Krt82	T	C	15: 101,453,546 (GRCm39)	E280G	probably benign	Het
Lemd1	C	A	1: 132,156,687 (GRCm39)	Q40K	probably damaging	Het
Lmo7	T	C	14: 102,124,444 (GRCm39)	L423P	possibly damaging	Het
Lrp8	A	G	4: 107,726,268 (GRCm39)	Y773C	probably damaging	Het
Miga2	AAGAG	AAG	2: 30,265,755 (GRCm39)		probably null	Het
Mroh8	A	T	2: 157,094,896 (GRCm39)	Y363*	probably null	Het
Or2n1c	G	A	17: 38,519,189 (GRCm39)	A18T	probably benign	Het
Or51a25	C	A	7: 102,372,790 (GRCm39)	K302N	probably damaging	Het
Or5p61	G	A	7: 107,758,435 (GRCm39)	T215I	probably benign	Het
Pcdha2	T	C	18: 37,073,316 (GRCm39)	Y316H	possibly damaging	Het
Pcdha6	T	A	18: 37,102,920 (GRCm39)	C704*	probably null	Het
Pik3c2g	G	A	6: 139,881,782 (GRCm39)	V923M	unknown	Het
Rhd	A	G	4: 134,603,694 (GRCm39)	S72G	probably benign	Het
Rhot1	T	C	11: 80,134,292 (GRCm39)	L295P	probably damaging	Het
Rrp1b	A	G	17: 32,268,458 (GRCm39)	E139G	possibly damaging	Het
Scnn1a	T	G	6: 125,320,806 (GRCm39)	Y620D	possibly damaging	Het
Serpinb12	A	T	1: 106,884,135 (GRCm39)	I294L	probably benign	Het
Serpinb3d	T	C	1: 107,008,469 (GRCm39)	D132G	probably damaging	Het
Slc26a3	A	T	12: 31,502,541 (GRCm39)	D254V	probably damaging	Het
Srrm1	A	T	4: 135,052,532 (GRCm39)	I614N	unknown	Het
Stt3b	A	G	9: 115,095,243 (GRCm39)	Y263H	probably damaging	Het
Taf7	T	A	18: 37,776,552 (GRCm39)	K5I	probably damaging	Het
Tbck	C	A	3: 132,458,285 (GRCm39)	H638Q	possibly damaging	Het
Tnfsf9	A	C	17: 57,412,541 (GRCm39)	D37A	probably benign	Het
Trim71	C	A	9: 114,344,857 (GRCm39)	V354F	probably benign	Het
Tspoap1	T	G	11: 87,669,127 (GRCm39)	C1467G	probably benign	Het
Xirp1	C	T	9: 119,848,499 (GRCm39)	R128Q	possibly damaging	Het
Zc3h12d	GCCC	GCC	10: 7,715,735 (GRCm39)		probably null	Het
Zfhx2	T	C	14: 55,301,549 (GRCm39)	D2145G	probably damaging	Het
Zfy2	T	C	Y: 2,117,168 (GRCm39)	T220A	probably benign	Het

Other mutations in CN725425

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01541:CN725425	APN	15	91,129,955 (GRCm39)	missense	possibly damaging	0.71
IGL02176:CN725425	APN	15	91,130,024 (GRCm39)	missense	probably benign
3-1:CN725425	UTSW	15	91,144,724 (GRCm39)	missense	possibly damaging	0.52
R0449:CN725425	UTSW	15	91,123,147 (GRCm39)	missense	possibly damaging	0.73
R0554:CN725425	UTSW	15	91,144,966 (GRCm39)	missense	possibly damaging	0.86
R1442:CN725425	UTSW	15	91,123,158 (GRCm39)	missense	possibly damaging	0.96
R1670:CN725425	UTSW	15	91,130,018 (GRCm39)	missense	possibly damaging	0.86
R1674:CN725425	UTSW	15	91,131,124 (GRCm39)	missense	possibly damaging	0.93
R2425:CN725425	UTSW	15	91,130,058 (GRCm39)	missense	probably damaging	0.97
R3966:CN725425	UTSW	15	91,126,890 (GRCm39)	critical splice donor site	probably null
R4959:CN725425	UTSW	15	91,129,904 (GRCm39)	missense	possibly damaging	0.92
R4973:CN725425	UTSW	15	91,129,904 (GRCm39)	missense	possibly damaging	0.92
R5506:CN725425	UTSW	15	91,120,029 (GRCm39)	missense	possibly damaging	0.85
R5512:CN725425	UTSW	15	91,124,959 (GRCm39)	missense	probably benign
R5726:CN725425	UTSW	15	91,144,706 (GRCm39)	missense	possibly damaging	0.85
R5808:CN725425	UTSW	15	91,129,847 (GRCm39)	missense	probably benign	0.32
R5820:CN725425	UTSW	15	91,144,900 (GRCm39)	missense	possibly damaging	0.71
R5945:CN725425	UTSW	15	91,129,980 (GRCm39)	missense	possibly damaging	0.86
R6366:CN725425	UTSW	15	91,131,124 (GRCm39)	missense	possibly damaging	0.93
R6441:CN725425	UTSW	15	91,120,005 (GRCm39)	missense	probably benign	0.33
R6484:CN725425	UTSW	15	91,144,775 (GRCm39)	missense	probably benign	0.32
R6523:CN725425	UTSW	15	91,115,784 (GRCm39)	missense	probably benign	0.01
R6721:CN725425	UTSW	15	91,115,821 (GRCm39)	missense	possibly damaging	0.53
R6901:CN725425	UTSW	15	91,124,966 (GRCm39)	missense	possibly damaging	0.93
R7341:CN725425	UTSW	15	91,126,873 (GRCm39)	missense	possibly damaging	0.96
R7654:CN725425	UTSW	15	91,123,638 (GRCm39)	missense	probably benign	0.04
R7704:CN725425	UTSW	15	91,119,993 (GRCm39)	missense	possibly damaging	0.86
R7709:CN725425	UTSW	15	91,124,930 (GRCm39)	missense	probably benign
R7880:CN725425	UTSW	15	91,130,308 (GRCm39)	nonsense	probably null
R8964:CN725425	UTSW	15	91,119,972 (GRCm39)	missense	possibly damaging	0.53
R8968:CN725425	UTSW	15	91,130,090 (GRCm39)	missense	possibly damaging	0.86
R9505:CN725425	UTSW	15	91,124,867 (GRCm39)	missense	possibly damaging	0.86
R9632:CN725425	UTSW	15	91,126,851 (GRCm39)	missense	possibly damaging	0.53
R9689:CN725425	UTSW	15	91,120,030 (GRCm39)	missense	possibly damaging	0.70
Z1088:CN725425	UTSW	15	91,129,965 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CAGGACACCTCTTCAGTAGC -3'
(R):5'- GAAATATTACCCTTCATTCACCACTGC -3'

Sequencing Primer
(F):5'- TCTTCAGTAGCCACACGC -3'
(R):5'- GCATTTGGCTAGCATCCTGAAAC -3'

Posted On

2020-09-02