Mutagenetix > Incidental Mutation

Incidental Mutation 'R8894:Cramp1'

677916

Institutional Source

Beutler Lab

Gene Symbol

Cramp1

Ensembl Gene

ENSMUSG00000038002

Gene Name

cramped chromatin regulator 1

Synonyms

5830477H08Rik, Tce4, Cramp1l

MMRRC Submission

068697-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8894 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25180200-25234762 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25202114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 456 (G456D)

Ref Sequence

ENSEMBL: ENSMUSP00000073060 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073337]

AlphaFold

Q6PG95

Predicted Effect

probably damaging
Transcript: ENSMUST00000073337
AA Change: G456D

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

SMART Domains

Protein: ENSMUSP00000073060
Gene: ENSMUSG00000038002
AA Change: G456D

Domain	Start	End	E-Value	Type
low complexity region	11	20	N/A	INTRINSIC
low complexity region	29	43	N/A	INTRINSIC
low complexity region	51	64	N/A	INTRINSIC
low complexity region	100	126	N/A	INTRINSIC
low complexity region	134	147	N/A	INTRINSIC
SANT	159	219	3.68e-3	SMART
low complexity region	479	503	N/A	INTRINSIC
low complexity region	548	562	N/A	INTRINSIC
low complexity region	792	803	N/A	INTRINSIC
low complexity region	833	845	N/A	INTRINSIC
low complexity region	889	903	N/A	INTRINSIC
low complexity region	1069	1086	N/A	INTRINSIC
low complexity region	1113	1124	N/A	INTRINSIC
low complexity region	1141	1156	N/A	INTRINSIC
low complexity region	1171	1185	N/A	INTRINSIC

Meta Mutation Damage Score

0.1569

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (63/64)

MGI Phenotype

PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit cleft palate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	C	T	9: 46,216,397 (GRCm39)	V291M	probably benign	Het
Abca14	A	C	7: 119,847,368 (GRCm39)	Y744S	probably damaging	Het
Acly	T	C	11: 100,407,639 (GRCm39)	E237G	probably benign	Het
Adcy1	T	A	11: 7,087,375 (GRCm39)	D416E	probably damaging	Het
Arid1b	T	A	17: 5,377,668 (GRCm39)	M1217K	probably damaging	Het
Atad2b	T	C	12: 5,064,001 (GRCm39)		probably null	Het
Ccdc177	A	G	12: 80,806,077 (GRCm39)	S66P	probably damaging	Het
Clpsl2	T	C	17: 28,769,645 (GRCm39)	C36R	possibly damaging	Het
Crb1	T	A	1: 139,175,750 (GRCm39)	L744F	possibly damaging	Het
Crybg3	T	A	16: 59,342,552 (GRCm39)	E980D	probably damaging	Het
Cyp2d11	A	T	15: 82,274,671 (GRCm39)	V302E	probably benign	Het
Cyp3a25	A	C	5: 145,931,670 (GRCm39)		probably benign	Het
Dhx35	G	C	2: 158,676,795 (GRCm39)	A410P	possibly damaging	Het
Dlg2	A	T	7: 91,614,946 (GRCm39)	H295L	probably benign	Het
Dnah2	T	A	11: 69,383,048 (GRCm39)	M1172L	probably benign	Het
Dock9	T	C	14: 121,860,373 (GRCm39)	S850G	probably benign	Het
Dst	A	T	1: 34,213,214 (GRCm39)	M1369L	possibly damaging	Het
Fcrl6	T	C	1: 172,426,856 (GRCm39)	N30S	probably benign	Het
Fibp	A	T	19: 5,513,309 (GRCm39)	Q208L	probably benign	Het
Foxc1	T	G	13: 31,992,205 (GRCm39)	S339A	unknown	Het
Fras1	T	C	5: 96,907,402 (GRCm39)	C3196R	probably damaging	Het
Galnt7	C	T	8: 57,979,176 (GRCm39)	W649*	probably null	Het
H2-M10.2	T	C	17: 36,595,555 (GRCm39)	N245S	possibly damaging	Het
Hapln3	G	A	7: 78,767,239 (GRCm39)	R267W	probably benign	Het
Hkdc1	T	C	10: 62,244,400 (GRCm39)	I229V	probably damaging	Het
Kank1	G	A	19: 25,408,378 (GRCm39)	G1286R	probably damaging	Het
Krba1	A	G	6: 48,388,629 (GRCm39)	I543V	probably damaging	Het
Lipn	A	T	19: 34,062,248 (GRCm39)	*401L	probably null	Het
Lrrc37a	T	C	11: 103,347,449 (GRCm39)	N3082S	unknown	Het
Magi1	A	T	6: 93,663,586 (GRCm39)	F1117Y	probably benign	Het
Man2a1	A	G	17: 65,020,596 (GRCm39)	K791E	probably benign	Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Mpp4	A	G	1: 59,197,743 (GRCm39)		probably null	Het
Muc2	T	G	7: 141,280,758 (GRCm39)	C371W	probably damaging	Het
Nebl	A	T	2: 17,380,036 (GRCm39)	N779K	probably benign	Het
Nf1	T	C	11: 79,336,619 (GRCm39)	L1066P	probably damaging	Het
Npat	T	C	9: 53,467,951 (GRCm39)	L302P	probably damaging	Het
Nudt21	C	A	8: 94,755,498 (GRCm39)	G146W	probably damaging	Het
Or10al6	T	A	17: 38,082,940 (GRCm39)	I132K	probably damaging	Het
Or10g1	A	T	14: 52,647,465 (GRCm39)	L288Q	probably damaging	Het
Or4c11c	T	G	2: 88,661,809 (GRCm39)	M116R	probably benign	Het
Or8c13	A	T	9: 38,091,370 (GRCm39)	F250I	probably damaging	Het
Pkd2l2	T	C	18: 34,571,273 (GRCm39)		probably benign	Het
Plcd3	T	A	11: 102,962,592 (GRCm39)	N620Y	probably damaging	Het
Ppl	T	C	16: 4,925,206 (GRCm39)		probably benign	Het
Pramel41	T	G	5: 94,596,399 (GRCm39)	C479G	probably damaging	Het
Prep	T	C	10: 45,034,620 (GRCm39)	*711Q	probably null	Het
Psap	T	A	10: 60,135,736 (GRCm39)	V394E	possibly damaging	Het
Ptprr	T	A	10: 115,884,250 (GRCm39)	D102E	probably benign	Het
Rgsl1	T	A	1: 153,698,119 (GRCm39)		probably null	Het
Rimbp2	T	A	5: 128,850,454 (GRCm39)	D943V	possibly damaging	Het
Rsrc2	G	T	5: 123,878,793 (GRCm39)	R113S	unknown	Het
Sim1	T	A	10: 50,786,626 (GRCm39)	V286E	possibly damaging	Het
Slc35d1	A	T	4: 103,068,529 (GRCm39)	F124L		Het
Sort1	T	C	3: 108,246,228 (GRCm39)	F402L	probably damaging	Het
Spata31f1a	A	G	4: 42,853,688 (GRCm39)	C47R	possibly damaging	Het
Tlr2	T	A	3: 83,744,091 (GRCm39)	E664V	probably damaging	Het
Tmppe	A	T	9: 114,230,260 (GRCm39)		probably benign	Het
Tnfrsf8	T	C	4: 145,001,038 (GRCm39)	D356G	possibly damaging	Het
Tnrc18	T	C	5: 142,725,212 (GRCm39)	E1839G	unknown	Het
Trgv4	T	C	13: 19,369,627 (GRCm39)	S124P	probably damaging	Het
Trim17	T	A	11: 58,859,536 (GRCm39)	M250K	probably benign	Het
Trim33	C	T	3: 103,218,807 (GRCm39)	L315F	probably damaging	Het
Vmn1r43	A	G	6: 89,846,746 (GRCm39)	S247P	probably benign	Het
Vmn2r33	T	A	7: 7,566,809 (GRCm39)	Y101F	probably benign	Het
Vmn2r40	T	C	7: 8,923,197 (GRCm39)	D388G		Het
Wdr36	C	T	18: 32,970,340 (GRCm39)		probably benign	Het
Zfp2	T	A	11: 50,791,843 (GRCm39)	I67F	possibly damaging	Het

Other mutations in Cramp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00566:Cramp1	APN	17	25,202,925 (GRCm39)	missense	probably benign	0.11
IGL01360:Cramp1	APN	17	25,216,547 (GRCm39)	missense	probably damaging	1.00
IGL01966:Cramp1	APN	17	25,201,917 (GRCm39)	missense	probably benign	0.01
IGL02211:Cramp1	APN	17	25,196,610 (GRCm39)	missense	possibly damaging	0.94
IGL02474:Cramp1	APN	17	25,204,024 (GRCm39)	missense	probably damaging	0.98
IGL02798:Cramp1	APN	17	25,187,894 (GRCm39)	splice site	probably benign
IGL03340:Cramp1	APN	17	25,192,516 (GRCm39)	missense	probably damaging	1.00
Interred	UTSW	17	25,202,956 (GRCm39)	missense	probably damaging	0.99
R0106:Cramp1	UTSW	17	25,191,350 (GRCm39)	missense	probably benign	0.30
R1054:Cramp1	UTSW	17	25,202,151 (GRCm39)	missense	probably damaging	1.00
R1220:Cramp1	UTSW	17	25,201,211 (GRCm39)	missense	probably damaging	1.00
R1341:Cramp1	UTSW	17	25,196,514 (GRCm39)	missense	probably damaging	1.00
R1491:Cramp1	UTSW	17	25,191,323 (GRCm39)	missense	probably benign	0.17
R1610:Cramp1	UTSW	17	25,202,925 (GRCm39)	missense	probably benign	0.11
R1649:Cramp1	UTSW	17	25,202,217 (GRCm39)	missense	probably damaging	1.00
R1795:Cramp1	UTSW	17	25,183,884 (GRCm39)	missense	probably damaging	1.00
R1856:Cramp1	UTSW	17	25,187,952 (GRCm39)	missense	probably damaging	1.00
R1881:Cramp1	UTSW	17	25,196,656 (GRCm39)	splice site	probably benign
R1968:Cramp1	UTSW	17	25,183,913 (GRCm39)	missense	probably damaging	1.00
R2047:Cramp1	UTSW	17	25,222,189 (GRCm39)	nonsense	probably null
R2099:Cramp1	UTSW	17	25,192,059 (GRCm39)	missense	probably benign	0.01
R2298:Cramp1	UTSW	17	25,216,454 (GRCm39)	missense	probably damaging	0.96
R3752:Cramp1	UTSW	17	25,190,532 (GRCm39)	missense	probably damaging	1.00
R3821:Cramp1	UTSW	17	25,193,756 (GRCm39)	missense	probably damaging	1.00
R3861:Cramp1	UTSW	17	25,216,588 (GRCm39)	splice site	probably benign
R4399:Cramp1	UTSW	17	25,198,559 (GRCm39)	missense	probably damaging	1.00
R4847:Cramp1	UTSW	17	25,204,063 (GRCm39)	missense	probably damaging	1.00
R4883:Cramp1	UTSW	17	25,201,293 (GRCm39)	missense	probably benign
R5579:Cramp1	UTSW	17	25,192,087 (GRCm39)	missense	possibly damaging	0.89
R5631:Cramp1	UTSW	17	25,204,577 (GRCm39)	missense	possibly damaging	0.93
R5716:Cramp1	UTSW	17	25,193,709 (GRCm39)	missense	probably damaging	0.99
R6589:Cramp1	UTSW	17	25,196,466 (GRCm39)	splice site	probably null
R6631:Cramp1	UTSW	17	25,202,931 (GRCm39)	missense	probably benign	0.40
R7307:Cramp1	UTSW	17	25,193,719 (GRCm39)	missense	possibly damaging	0.94
R7323:Cramp1	UTSW	17	25,201,379 (GRCm39)	missense	possibly damaging	0.90
R7672:Cramp1	UTSW	17	25,201,440 (GRCm39)	missense	probably damaging	0.96
R7832:Cramp1	UTSW	17	25,202,196 (GRCm39)	missense	probably damaging	0.96
R8071:Cramp1	UTSW	17	25,201,674 (GRCm39)	missense	probably damaging	0.99
R8244:Cramp1	UTSW	17	25,190,384 (GRCm39)	missense	probably damaging	1.00
R8430:Cramp1	UTSW	17	25,196,536 (GRCm39)	missense	probably damaging	1.00
R8783:Cramp1	UTSW	17	25,193,732 (GRCm39)	missense	probably damaging	0.99
R8890:Cramp1	UTSW	17	25,202,114 (GRCm39)	missense	probably damaging	1.00
R8892:Cramp1	UTSW	17	25,202,114 (GRCm39)	missense	probably damaging	1.00
R8937:Cramp1	UTSW	17	25,202,956 (GRCm39)	missense	probably damaging	0.99
R8941:Cramp1	UTSW	17	25,202,114 (GRCm39)	missense	probably damaging	1.00
R9029:Cramp1	UTSW	17	25,232,884 (GRCm39)	missense	probably damaging	1.00
R9047:Cramp1	UTSW	17	25,198,603 (GRCm39)	missense	possibly damaging	0.90
R9149:Cramp1	UTSW	17	25,187,920 (GRCm39)	missense	probably damaging	0.99
R9262:Cramp1	UTSW	17	25,232,920 (GRCm39)	missense	probably damaging	0.99
R9460:Cramp1	UTSW	17	25,222,281 (GRCm39)	missense	probably damaging	1.00
R9614:Cramp1	UTSW	17	25,201,783 (GRCm39)	missense	probably damaging	1.00
R9615:Cramp1	UTSW	17	25,201,783 (GRCm39)	missense	probably damaging	1.00
R9651:Cramp1	UTSW	17	25,201,783 (GRCm39)	missense	probably damaging	1.00
R9652:Cramp1	UTSW	17	25,201,783 (GRCm39)	missense	probably damaging	1.00
R9653:Cramp1	UTSW	17	25,201,783 (GRCm39)	missense	probably damaging	1.00
R9665:Cramp1	UTSW	17	25,196,545 (GRCm39)	missense	probably damaging	1.00
R9753:Cramp1	UTSW	17	25,191,320 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- TCACAGGGGTCTTCTCAAGG -3'
(R):5'- AAGGTGGCATTGCACCTGTTC -3'

Sequencing Primer
(F):5'- CTCAAGGTGTGGTCCAGAGTC -3'
(R):5'- TGTTCCCAGGCGAGAACTG -3'

Posted On

2021-08-02