Mutagenetix > Incidental Mutation

Incidental Mutation 'R6389:Cntd1'

515704

Institutional Source

Beutler Lab

Gene Symbol

Cntd1

Ensembl Gene

ENSMUSG00000078653

Gene Name

cyclin N-terminal domain containing 1

Synonyms

1700051C09Rik, 5430417M23Rik

MMRRC Submission

044538-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101170029-101179527 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101176577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 225 (I225F)

Ref Sequence

ENSEMBL: ENSMUSP00000099396 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041403] [ENSMUST00000103107] [ENSMUST00000129863] [ENSMUST00000130916] [ENSMUST00000167667] [ENSMUST00000172233]

AlphaFold

Q9D995

Predicted Effect

probably benign
Transcript: ENSMUST00000041403

Predicted Effect

probably damaging
Transcript: ENSMUST00000103107
AA Change: I225F

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099396
Gene: ENSMUSG00000078653
AA Change: I225F

Domain	Start	End	E-Value	Type
Pfam:Cyclin_N	111	180	1.8e-6	PFAM
low complexity region	212	221	N/A	INTRINSIC
low complexity region	319	330	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122817

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128735

Predicted Effect

probably benign
Transcript: ENSMUST00000129863

SMART Domains

Protein: ENSMUSP00000116580
Gene: ENSMUSG00000035086

Domain	Start	End	E-Value	Type
Pfam:APG6	6	125	1.5e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130916

SMART Domains

Protein: ENSMUSP00000119369
Gene: ENSMUSG00000035086

Domain	Start	End	E-Value	Type
Pfam:BH3	103	127	4.1e-20	PFAM
Pfam:APG6	133	444	1.1e-131	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135805

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153438

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139997

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136535

Predicted Effect

probably benign
Transcript: ENSMUST00000167667

Predicted Effect

probably benign
Transcript: ENSMUST00000172233

SMART Domains

Protein: ENSMUSP00000129156
Gene: ENSMUSG00000035086

Domain	Start	End	E-Value	Type
Pfam:APG6	79	274	3.7e-75	PFAM

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.9%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	C	7: 43,147,254 (GRCm39)	L326R	possibly damaging	Het
Abcb11	A	T	2: 69,154,238 (GRCm39)	N109K	probably damaging	Het
Actn1	T	A	12: 80,221,296 (GRCm39)	M586L	probably benign	Het
Ago4	T	A	4: 126,401,037 (GRCm39)	I603F	probably damaging	Het
Bicc1	A	T	10: 70,794,752 (GRCm39)	V135D	probably damaging	Het
Bms1	T	C	6: 118,380,196 (GRCm39)	N704D	possibly damaging	Het
Cadm4	A	C	7: 24,198,959 (GRCm39)	Q78P	probably benign	Het
Cfap74	T	C	4: 155,507,793 (GRCm39)	I248T	possibly damaging	Het
Clu	G	C	14: 66,208,771 (GRCm39)		probably benign	Het
Cnnm3	T	C	1: 36,559,603 (GRCm39)	V514A	probably damaging	Het
Col20a1	T	C	2: 180,634,376 (GRCm39)		probably null	Het
Ctnnal1	A	G	4: 56,813,849 (GRCm39)	V640A	probably benign	Het
Cul4a	A	G	8: 13,190,278 (GRCm39)	T572A	probably benign	Het
D16Ertd472e	A	G	16: 78,342,071 (GRCm39)	S270P	probably damaging	Het
Dmp1	A	T	5: 104,360,788 (GRCm39)	N488I	probably damaging	Het
Dnah14	G	A	1: 181,478,767 (GRCm39)		probably null	Het
Dst	T	C	1: 34,232,265 (GRCm39)	L3464P	probably damaging	Het
Fnbp4	C	T	2: 90,575,879 (GRCm39)	P27S	unknown	Het
Fpr-rs3	A	T	17: 20,844,230 (GRCm39)	F304I	probably damaging	Het
Gm13941	T	C	2: 110,928,734 (GRCm39)	Q108R	unknown	Het
Hcn3	C	T	3: 89,058,240 (GRCm39)	A339T	possibly damaging	Het
Inpp5f	A	G	7: 128,279,780 (GRCm39)	D460G	probably damaging	Het
Ism2	T	C	12: 87,329,145 (GRCm39)	E253G	possibly damaging	Het
Klrg1	T	C	6: 122,248,431 (GRCm39)	N156S	probably damaging	Het
Ksr2	A	G	5: 117,552,907 (GRCm39)	N5S	probably benign	Het
Lrrc7	T	G	3: 157,891,063 (GRCm39)	E368A	probably damaging	Het
Ly9	G	C	1: 171,424,105 (GRCm39)	S482C	probably damaging	Het
Map3k1	T	C	13: 111,905,975 (GRCm39)	D289G	probably damaging	Het
Mcub	T	C	3: 129,712,357 (GRCm39)	T173A	probably benign	Het
Mup16	T	C	4: 61,437,177 (GRCm39)	E48G	probably damaging	Het
Naf1	C	T	8: 67,313,680 (GRCm39)	S24L	possibly damaging	Het
Ncoa6	A	G	2: 155,237,736 (GRCm39)	S2024P	probably damaging	Het
Nop56	C	A	2: 130,119,807 (GRCm39)	Q83K	probably damaging	Het
Nt5e	T	C	9: 88,245,524 (GRCm39)	Y265H	probably damaging	Het
Odad1	G	T	7: 45,597,940 (GRCm39)	V617F	probably benign	Het
Or4a27	A	G	2: 88,559,016 (GRCm39)	V309A	probably benign	Het
Or52p2	A	T	7: 102,237,679 (GRCm39)	N90K	probably benign	Het
Or5w8	C	T	2: 87,688,367 (GRCm39)	P283S	probably damaging	Het
Oxct2a	T	A	4: 123,217,220 (GRCm39)	K54*	probably null	Het
Oxct2b	G	T	4: 123,010,367 (GRCm39)	D96Y	probably benign	Het
Pisd	A	G	5: 32,922,191 (GRCm39)	Y250H	probably damaging	Het
Plekhm1	G	T	11: 103,257,720 (GRCm39)	N1071K	probably benign	Het
Prr11	G	A	11: 86,989,564 (GRCm39)	T269I	possibly damaging	Het
Ptpn4	T	A	1: 119,649,684 (GRCm39)	H304L	probably damaging	Het
Rrp1b	A	G	17: 32,275,601 (GRCm39)	K383E	possibly damaging	Het
Sel1l2	C	A	2: 140,087,274 (GRCm39)	A466S	probably damaging	Het
Slc9a4	A	G	1: 40,619,844 (GRCm39)	I57V	probably benign	Het
Spag9	A	G	11: 93,977,137 (GRCm39)	E81G	probably damaging	Het
Tbr1	A	G	2: 61,636,631 (GRCm39)		probably benign	Het
Tnrc6c	A	G	11: 117,613,567 (GRCm39)	D735G	probably damaging	Het
Tspan17	A	T	13: 54,943,429 (GRCm39)		probably null	Het
Tyw5	T	C	1: 57,430,658 (GRCm39)	K175R	probably damaging	Het
Ube2o	A	C	11: 116,439,684 (GRCm39)	I162R	probably null	Het
Ubr1	G	T	2: 120,711,520 (GRCm39)	T1458K	probably benign	Het
Vmn2r16	A	T	5: 109,478,344 (GRCm39)	Q33L	probably benign	Het
Zfp1007	G	A	5: 109,823,885 (GRCm39)	P522S	possibly damaging	Het
Zfp799	A	G	17: 33,039,552 (GRCm39)	L238P	probably damaging	Het

Other mutations in Cntd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03309:Cntd1	APN	11	101,175,590 (GRCm39)	missense	probably damaging	0.98
R0328:Cntd1	UTSW	11	101,174,259 (GRCm39)	missense	probably benign	0.10
R0669:Cntd1	UTSW	11	101,178,324 (GRCm39)	missense	probably damaging	1.00
R1344:Cntd1	UTSW	11	101,176,566 (GRCm39)	missense	possibly damaging	0.78
R1418:Cntd1	UTSW	11	101,176,566 (GRCm39)	missense	possibly damaging	0.78
R1928:Cntd1	UTSW	11	101,174,678 (GRCm39)	missense	probably damaging	1.00
R2258:Cntd1	UTSW	11	101,175,682 (GRCm39)	missense	probably damaging	1.00
R3928:Cntd1	UTSW	11	101,178,345 (GRCm39)	missense	probably benign	0.00
R5001:Cntd1	UTSW	11	101,176,557 (GRCm39)	missense	possibly damaging	0.53
R7058:Cntd1	UTSW	11	101,178,252 (GRCm39)	missense	probably damaging	1.00
R7620:Cntd1	UTSW	11	101,174,240 (GRCm39)	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- GCATTAGCAACTAAACCGCTTTATG -3'
(R):5'- AAGTTTTCCCGGGCTCACTC -3'

Sequencing Primer
(F):5'- GCAACTAAACCGCTTTATGTCGTAAG -3'
(R):5'- TCTGCATCTGAACCACATACTGGAAG -3'

Posted On

2018-05-04