Mutagenetix > Incidental Mutation

Incidental Mutation 'R8247:Cimip4'

640732

Institutional Source

Beutler Lab

Gene Symbol

Cimip4

Ensembl Gene

ENSMUSG00000062154

Gene Name

ciliary microtubule inner protein 4

Synonyms

1700061J05Rik, Tex33

MMRRC Submission

067674-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R8247 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78262600-78280112 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 78262992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 221 (S221A)

Ref Sequence

ENSEMBL: ENSMUSP00000073984 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074380] [ENSMUST00000165170] [ENSMUST00000169575]

AlphaFold

Q9D9J2

Predicted Effect

probably benign
Transcript: ENSMUST00000074380
AA Change: S221A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000073984
Gene: ENSMUSG00000062154
AA Change: S221A

Domain	Start	End	E-Value	Type
low complexity region	47	61	N/A	INTRINSIC
low complexity region	63	71	N/A	INTRINSIC
Pfam:TEX33	128	266	4.2e-73	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165170
AA Change: S221A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000133264
Gene: ENSMUSG00000062154
AA Change: S221A

Domain	Start	End	E-Value	Type
low complexity region	47	61	N/A	INTRINSIC
low complexity region	63	71	N/A	INTRINSIC
Pfam:TEX33	128	265	1.7e-73	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169575
AA Change: S196A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000130849
Gene: ENSMUSG00000062154
AA Change: S196A

Domain	Start	End	E-Value	Type
low complexity region	22	36	N/A	INTRINSIC
low complexity region	38	46	N/A	INTRINSIC
Pfam:TEX33	103	241	9.6e-73	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	T	C	6: 52,155,942 (GRCm39)	S3P	unknown	Het
Abca15	A	T	7: 119,936,445 (GRCm39)	Y170F	possibly damaging	Het
Alpl	C	T	4: 137,473,764 (GRCm39)	V313M	probably damaging	Het
Ankrd44	T	C	1: 54,792,102 (GRCm39)	H311R	probably damaging	Het
Atm	A	T	9: 53,361,870 (GRCm39)	L2749Q		Het
Bicd2	C	T	13: 49,533,462 (GRCm39)	R683W	probably damaging	Het
Brat1	C	A	5: 140,698,893 (GRCm39)	P342T	possibly damaging	Het
Camta1	T	A	4: 151,159,721 (GRCm39)	T482S	probably damaging	Het
Carhsp1	A	G	16: 8,481,535 (GRCm39)	V67A	probably damaging	Het
Carmil1	T	A	13: 24,282,998 (GRCm39)	N512I	probably damaging	Het
Ccdc126	C	T	6: 49,316,775 (GRCm39)	T85M	probably damaging	Het
Cd274	C	T	19: 29,362,795 (GRCm39)	Q286*	probably null	Het
Cep192	T	A	18: 67,974,188 (GRCm39)	I1097N	probably benign	Het
Clvs1	A	T	4: 9,281,885 (GRCm39)	N110Y	possibly damaging	Het
Cntln	A	G	4: 85,019,017 (GRCm39)	T102A	probably benign	Het
Cp	A	C	3: 20,020,570 (GRCm39)	I188L	possibly damaging	Het
Crh	A	G	3: 19,748,291 (GRCm39)	L117P	probably benign	Het
Dcaf1	A	T	9: 106,731,427 (GRCm39)	I635F	possibly damaging	Het
Dennd2c	A	G	3: 103,059,637 (GRCm39)	D521G	probably damaging	Het
E2f2	C	T	4: 135,900,126 (GRCm39)	T12M	possibly damaging	Het
Eid2	G	A	7: 27,967,972 (GRCm39)	R198H	probably damaging	Het
Exosc4	G	T	15: 76,213,279 (GRCm39)	C74F	probably damaging	Het
Fanca	A	T	8: 124,010,694 (GRCm39)		probably benign	Het
Ganc	A	T	2: 120,267,181 (GRCm39)	Q499L	probably null	Het
Gfy	T	C	7: 44,827,710 (GRCm39)	T129A	possibly damaging	Het
Gli3	G	T	13: 15,901,360 (GRCm39)	M1582I	possibly damaging	Het
Gm4744	A	G	6: 40,926,402 (GRCm39)	S63P		Het
Htr2b	T	C	1: 86,027,817 (GRCm39)	T230A	probably benign	Het
Iqcb1	T	A	16: 36,678,836 (GRCm39)	N383K	probably benign	Het
Lpcat1	A	T	13: 73,662,071 (GRCm39)	I471F	probably damaging	Het
Lrch3	T	G	16: 32,829,713 (GRCm39)	L781*	probably null	Het
Lrif1	T	A	3: 106,641,692 (GRCm39)	S3T	probably damaging	Het
Lrp2	T	A	2: 69,261,431 (GRCm39)	R4503S	possibly damaging	Het
Lrrc8c	T	C	5: 105,756,310 (GRCm39)	I695T	probably damaging	Het
Mak	G	A	13: 41,193,146 (GRCm39)	T473M	possibly damaging	Het
Map2k5	A	T	9: 63,279,019 (GRCm39)	Y62N	probably damaging	Het
Mbd3l2	T	C	9: 18,356,299 (GRCm39)	L208P	probably damaging	Het
Myo18b	T	C	5: 112,840,062 (GRCm39)	E2577G	probably damaging	Het
Nfia	A	T	4: 97,953,644 (GRCm39)	T461S	probably benign	Het
Oaz3	A	G	3: 94,343,741 (GRCm39)	Y41H	probably damaging	Het
Or10ab5	T	A	7: 108,245,370 (GRCm39)	I138F	probably damaging	Het
Or1p1	C	A	11: 74,180,315 (GRCm39)	T281K	noncoding transcript	Het
Or2ad1	A	G	13: 21,326,295 (GRCm39)	S311P	probably benign	Het
Or51m1	T	C	7: 103,578,783 (GRCm39)	V251A	possibly damaging	Het
Pin1rt1	T	C	2: 104,544,892 (GRCm39)	E80G	probably damaging	Het
Pmpcb	T	C	5: 21,961,852 (GRCm39)	Y457H	probably damaging	Het
Polr2b	T	C	5: 77,468,062 (GRCm39)	S121P	possibly damaging	Het
Ppm1e	C	T	11: 87,122,101 (GRCm39)	G619R	probably benign	Het
Pramel5	T	A	4: 143,999,395 (GRCm39)	M231L	probably damaging	Het
Prex2	G	T	1: 11,270,194 (GRCm39)	C1293F	probably benign	Het
Psg20	A	G	7: 18,416,562 (GRCm39)	F185L	probably benign	Het
Psg28	A	G	7: 18,156,864 (GRCm39)	V457A	probably benign	Het
Pxmp2	A	G	5: 110,422,445 (GRCm39)	L188P	probably damaging	Het
Scd3	A	T	19: 44,227,003 (GRCm39)	N279I	possibly damaging	Het
Scg2	T	G	1: 79,414,236 (GRCm39)	K162N	possibly damaging	Het
Sipa1l2	T	C	8: 126,149,372 (GRCm39)	E1629G	probably benign	Het
Slc27a2	T	A	2: 126,395,515 (GRCm39)	F147L	probably benign	Het
Smco1	T	C	16: 32,092,557 (GRCm39)	V76A	probably benign	Het
Spic	T	C	10: 88,511,923 (GRCm39)	K111R	probably damaging	Het
Spidr	A	G	16: 15,786,390 (GRCm39)		probably null	Het
Sptbn1	T	A	11: 30,063,906 (GRCm39)	I1971F	possibly damaging	Het
Stard8	C	T	X: 98,109,570 (GRCm39)	S155L	probably benign	Het
Tiam1	G	A	16: 89,695,037 (GRCm39)	T140M	probably benign	Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Ufl1	T	C	4: 25,250,606 (GRCm39)	E749G	probably benign	Het
Vmn1r168	G	T	7: 23,240,487 (GRCm39)	V115F	possibly damaging	Het
Wars2	G	A	3: 99,094,965 (GRCm39)	V87I	probably benign	Het
Zdhhc14	T	A	17: 5,736,031 (GRCm39)	C170S	probably damaging	Het
Zfp113	C	T	5: 138,143,296 (GRCm39)	C318Y	possibly damaging	Het
Zfp367	A	G	13: 64,300,482 (GRCm39)	S108P	probably benign	Het

Other mutations in Cimip4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00598:Cimip4	APN	15	78,270,438 (GRCm39)	missense	probably damaging	1.00
IGL02554:Cimip4	APN	15	78,262,736 (GRCm39)	missense	possibly damaging	0.92
IGL03153:Cimip4	APN	15	78,269,516 (GRCm39)	missense	probably damaging	0.98
R0201:Cimip4	UTSW	15	78,263,028 (GRCm39)	missense	probably damaging	0.96
R1557:Cimip4	UTSW	15	78,270,474 (GRCm39)	missense	probably damaging	0.99
R1828:Cimip4	UTSW	15	78,270,588 (GRCm39)	missense	possibly damaging	0.62
R1891:Cimip4	UTSW	15	78,262,952 (GRCm39)	missense	probably damaging	1.00
R5121:Cimip4	UTSW	15	78,270,373 (GRCm39)	missense	probably benign	0.40
R5438:Cimip4	UTSW	15	78,263,040 (GRCm39)	missense	possibly damaging	0.71
R6076:Cimip4	UTSW	15	78,270,427 (GRCm39)	missense	possibly damaging	0.66
R6156:Cimip4	UTSW	15	78,263,013 (GRCm39)	missense	probably damaging	1.00
R7105:Cimip4	UTSW	15	78,270,318 (GRCm39)	missense	possibly damaging	0.81
R7530:Cimip4	UTSW	15	78,270,516 (GRCm39)	missense	probably benign	0.02
R8315:Cimip4	UTSW	15	78,262,686 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- TCACAGTGGCTAGCAGCTTC -3'
(R):5'- ATTGAGGCCACACTGAACC -3'

Sequencing Primer
(F):5'- AGCTTCCAGGGGGTACAGAC -3'
(R):5'- ACTGAACCCTCCCATTCCC -3'

Posted On

2020-07-28